Today is our annual #Ride4Riaan! We’re still thousands away from our goal. Donate today and help us reach our $10,000 goal before RRI Cyclist Winty Singh crosses the 75-mile finish line in Lincoln, Nebraska.

“This year’s #Ride4Riaan feels different because RRI is in a different place, and I’m starting something new too (with gravel riding). I’m excited about where RRI is, the treatment is not just aspirational now. There is a treatment! There’s something to advance now, and that’s exciting. That has changed the mission and meaning. We’re hopefully getting more kids treated, and fulfilling more hopes for parents, and that’s exciting. I really want to honor the CS families, and all of the donors who have supported me.” - Winty Singh, #Ride4Riaan

Two stories were published that look at our nearly five-year journey toward the world’s first gene therapy treatment for Cockayne syndrome from completely different perspectives.

One tells the deeply personal story of our founders, Riaan’s parents, and what it meant to create an experimental treatment for their son and community, and then have to decide whether they were willing to give it to him.

The other tells the story of an extraordinary legal team that saw what we were trying to accomplish, stepped forward to help, and stayed beside us for nearly five years.

And today, #Ride4Riaan is underway in Lincoln, Nebraska, where our incredible cyclist Winty Singh is riding 75 miles at Lauf Gravel Worlds to help us continue this work.

So today, we’re asking you not only to read these stories.

We’re asking you to help us write what comes next.

The Story Behind Dosing Day

Last week, HuffPost published an essay by RRI founder and Riaan’s mom, Jo Kaur:

“We Helped Create A $4 Million Gene Therapy For Our Son. Then We Had To Decide If We Should Give It To Him.”

For nearly five years, RRI worked alongside scientists, clinicians, attorneys, donors, advocates and countless supporters to move an experimental gene therapy for Cockayne syndrome from an idea toward the clinic.

RRI raised millions of dollars. We funded research, testing and manufacturing. We learned about AAV gene therapy and regulatory pathways. We kept moving forward despite enormous uncertainty.

And then, after spending years trying to create a treatment for Riaan, Jo and Richie, Riaan’s parents, faced a question they hadn’t fully anticipated:

Were they actually willing to give the experimental treatment to Riaan?

The HuffPost essay goes behind the milestone and into the part of first-in-human experimental medicine that rarely makes it into an announcement: the fear, the late-night conversations, the informed consent form that could never fully capture the weight of the decision, Dosing Day itself, and the uncertainty that remained afterward.

On Dosing Day, there was no knowing what came next, and no undoing it either.

Ultimately, this isn’t simply a story about gene therapy.

It’s a story about love.

About how far parents will go for their child, and what happens when all the science, preparation and expert advice in the world still cannot tell you with certainty what the right decision is.

Read the HuffPost essay here.

The Lawyers Who Brought Their Hearts

Yesterday, Law360, a leading legal news publication, told another part of this story

“Hogan Lovells Helps Advance Gene Therapy For Rare Disease”

This one begins, wonderfully enough, with a LinkedIn post.

In 2021, Hogan Lovells partner Blake Wilson happened upon a post about Riaan and our newly formed Riaan Research Initiative.

He didn’t know our family. But he knew FDA regulatory law, and he thought he could help.

So he sent an email to our general inbox. That email began a pro bono relationship that would span nearly five years and accompany our program on its journey toward Riaan receiving treatment.

Blake told Law360 that when he first saw our story, it “leapt off the page at me.”

But some of the words that meant the most to us in the piece were his reflections on working together over the years:

“I was always very impressed with how prepared [Jo] was coming into every single meeting.”

He described how Jo educated herself so she could ask pointed questions and “pressure test” the strategies and pathways being proposed.

And then he said:

“Jo did that part with flying colors. It was just amazing to watch.”

Those words mean a great deal, especially coming from regulatory subject matter experts. But what the words pro bono counsel don’t fully capture is what Hogan Lovells gave this effort beyond legal expertise.

They brought heart and believed in what we were trying to accomplish for our CS children. They understood its urgency, and they stayed alongside us for the journey, all to assist an ultra-rare disease community with few options.

We are enormously grateful to Blake and the many Hogan Lovells attorneys who have contributed their time and expertise over the years.

Read the Law360 Pro Bono Spotlight here.

And Now: We Need You

These two stories look backward at an extraordinary journey.

#Ride4Riaan is about what happens next.

Today, RRI Super Cyclist Winty Singh is in Lincoln, Nebraska, riding 75 miles at Lauf Gravel Worlds for children with Cockayne syndrome.

“I’m feeling pretty good before this ride although I think I have this weird, calm nervousness. I don’t have the extent of experience that I have with road riding. It still feels like there’s a lot fundamentally unknown. The unknown makes me nervous. But I feel pretty good and I want to put in an honest effort for the CS community.”

He is putting his legs to work for our kids on his most challenging ride yet - on gravel, on a rainy day.

Now we’re asking you to help him reach the finish line.

We have a $10,000 #Ride4Riaan fundraising goal, and we still have thousands of dollars left to raise.

Every mile Winty rides today represents the work still ahead of us.

Riaan was the first. Our work cannot end with the first child. We want to continue advancing treatment for Cockayne syndrome and work toward creating opportunities for more children and families.

That requires the same thing it has required from the beginning: people deciding that an ultra-rare disease affecting a small number of children is still worth fighting, and that every child’s life matters.

People deciding to care. People deciding to help.

Five years ago, one of those people happened to see a LinkedIn post and sent us an email. Today, maybe it’s you clicking on this donation link, and contributing whatever your resources allow (every dollar helps, we promise!).

Help us continue this groundbreaking work.

Donate to #Ride4Riaan today, and help Winty reach his $10,000 goal.

Donate here.

Thank you to everyone for your incredible support. We are intensely grateful to and embrace our entire community for carrying us to this point: fellow CS families, supporters, experts, advocates, the larger rare disease community, and so many friends, near and far!

This summer, we celebrate our five-year anniversary as an organization. Five years ago, following our inspiration Riaan’s diagnosis, we were told there was nothing we, as parents, could do. Today, the first patient has been treated with gene therapy for the disease.

To celebrate this milestone, we’re excited to share our first-ever impact report with the rare disease community, capturing a snapshot of the progress, milestones, and sheer intensity behind five years of research, fundraising, community-building, drug repurposing, and, of course, gene therapy development.

Read From Hope to Reality: Transforming the Future of Cockayne Syndrome, and see just how far we’ve come together as a community.

We are incredibly proud of what we've built, together with you, and how fiercely we've pushed the gene therapy program from concept to clinic - just shy of five years. We know our beautiful, perfect children don’t have the time, and deserve treatments as quickly as possible.

As we commemorate our five years, thank you to the many experts and kind souls who helped advance the work and mission of Riaan Research Initiative, generously lending their skills, talent, intellect, empathy, and passion to build treatments and better the lives of children diagnosed with this devastating disease. We are also immensely grateful to all of our supporters, and to families impacted by Cockayne syndrome from around the world who have helped to ensure our children are not left behind by the research ecosystem.

Help us continue this groundbreaking work by making a donation to #Ride4Riaan. Our goal is to raise $10,000 by August 22, 2026 in time for cyclist Winty Singh's monumental 75-mile gravel bike ride in Lincoln, Nebraska to bring gene therapy to more children diagnosed with CS! Donate here, and please spread the word.

Thank you, as always, for being part of this complex, wild, and miraculous journey with us.

From Hope to Reality: Five-Year Impact Report

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Transforming the Future of Cockayne Syndrome

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by Jo Kaur, Riaan’s Mom and Founder of Riaan Research Initiative

(June 30, 2026): Death is never far from my mind. These days, many in the Cockayne syndrome community are worried sick over a beloved child currently in hospice care. Every couple of months, sometimes more often, there’s sad news that shakes us all and reminds us of our children’s limited mortality and the cruelty of this disease.

Death is not likely far from the minds of most parents of a child diagnosed with a fatal rare disease (or most mortals), but we hardly talk about it. Or if we do, it’s often filtered through the views of the Abrahamic faiths. The traditions of lesser-known faiths, such as Sikhi (my faith), are often left out of the discussion, as are the ones of atheists or agnostics. Perhaps it’s because we don’t have the vocabulary to have a conversation that can expand beyond the Western mainstream. Well, allow me to fill in those gaps.

A Meditative Walk on the Beach

But before I do, let me tell you about this amazing hour I had in January 2026. I left the kids with Richie and my parents, and headed off to the beach, for the first time, taking, no demanding some time alone. I walked along the Atlantic Ocean, on the sidewalk that travels parallel to the sea, enjoying the warm weather and the cool breeze. I headed down one of the entryways into the sandy part of the beach, and sat down on the sand. There were only a couple of people out, all walking with their dogs.

I took out my phone and tried a five minute kriya meditation video, and to my surprise, I got into it. Inhaling, and exhaling to the sounds of the sea, I extended it for another five minutes, not wanting to open my eyes. I felt a peace, and finally a surrender that I never achieve these days. It wasn’t a full surrender. I was still in a public place after all, but even the partial yield left me feeling euphoric. My insides screamed with ecstasy, I felt truly at one with my surroundings and the great beyond. I let the intense anxiety of the past few months and worries of the future, of our IND application, Riaan being first-in-human, melt away. I wiggled my fingers, slowly opened my eyes, and stood up, feeling extremely strong. I walked along the water for another hour or so as the intense orange sun dipped into temporary oblivion, my legs sturdy enough to climb mountains with ease. Soon the sand dunes along the water began to grow taller and taller, and I realized I’d walked so far, I’d become trapped between the dunes and the ocean. It didn’t bother me though. With the sea birds as company, I knew I was strong enough to easily climb to the top. I did, without even breaking a sweat.

Making my way to the car, I thought, wow, I feel magnificent, but what’s the point of maximizing one’s well-being when there’s limits on what can be done with it? It’s not like I can go out there and change the world with this newfound solace and energy. I have to go home and take care of my kids. There’s limits to this power. Why bother feeling good?

I don’t have a resolution to this thought. I’m just letting it linger. Another thought did nag at me though: Maybe we need to prepare our minds for the eventual prison that awaits us all, whether it’s physical or mental. Or both. There’s trauma ahead, but maybe the fear and grief doesn’t have to destroy the mind.

I used to love being trapped in my mind, challenging it with new knowledge, and sometimes even complex problems that are beyond me to solve. A humorous sidekick that I always had, a friend, a soulmate that was comparable to no other. I remember a weekend working on the four color theorem in my head, and visualizing it so clearly I felt sharp and refreshed. These days, the mind is a fuzzier and unsettled place, one that I generally try to avoid.

Conquering Fear and Skyscrapers

There are some human beings that are better than the rest of us in silencing the primitive. It’s a fact. I remember watching in awe, live on Netflix, as Alex Honnold, a rock climber, climbed a skyscraper in Taipei, without ropes or equipment, and only chalk. While my palms were sweaty, sitting on the couch, he was at total ease, like he was taking a walk around the block and not climbing a 103-foot-tall building. Nerves of steel? Try nerves of titanium (just like Riaan!). MRI scans of his brain purportedly show a limited fear response: the things that terrify most of us don’t stimulate his brain’s fear response centers. He needs more stimuli to feel that level of fear. To his credit, Alex would push back and say it’s not because he’s any different from the rest of us, he’s just trained and practiced climbing under all kinds of conditions his entire life. The rest of us mortals can be just like him too! We can conquer our fears, or more accurately, build up our tolerance against panic. We too can maintain our ability to remain cool, calm, and collected in more stressful situations (let’s try it together!).

Yet he’s not the best example either. There’s a lot more to fear in this world, that turns our blood to ice, than tall buildings. And far greater examples of courage than a grown man voluntarily climbing a skyscraper for a lot of money, such as children who face off the most powerful armies in the world. Or even children diagnosed with fatal rare diseases like Cockayne syndrome, and trying to live out each day while their neurons die.

The day after my euphoric moment on the beach, we flew back to New York City, right in time for a big snowstorm. Riaan did fantastic on the flight - we’ve flown 12 or 13 times by now - and as the plane shook over Manhattan, I looked down at the skyscrapers, and didn’t think of the city as home, but as the place where Riaan would be treated. From the plane, I felt like I could see our clinical site for the gene therapy, NewYork-Presbyterian Hospital/Weill Cornell. Riaan sat on my lap, my belt around both of us, and we gazed down at the always impressive NYC skyline, trying to keep our lunch in our stomachs.

Riaan won’t fly again until he’s been treated, I thought at the time, trying to summon the courage. This was it. The flight before the big day.

But back to the topic at hand. Back to thoughts of the afterlife.

Philosophy should be a global exercise.

I first learned about death when I was about seven. I remember being on a walk with my late grandfather, whom I called “Papa Ji,” and he told me about how one of the neighborhood dogs was no longer with us. “What does that mean?” I asked.

“Well, he died.” What’s that? Papa Ji then told me that all living beings die and explained to me, rather bluntly I thought, what happens when we die. I gasped, putting two and two together. My sister? My parents? Me?! Yes, he said. Everyone will one day die. I ran home sobbing, and tightly hugged my family. It was a horror too shocking for my little brain to conceptualize.

We must all always be together forever, I thought. We can never ever be apart. Isn’t that what love is?

The world of rare disease is also sadly the world of death. Children die from their diseases, in large numbers. Parents grieve, endlessly. There are numerous support groups for each particular rare disease, and larger umbrella organizations, to try and help parents dealing with this intense grief. Experts and psychologists describe child loss as one of the most devastating forms of human suffering.

A large number of rare disease support groups, even if secular, are organized around the ethos of mainstream Western religious philosophies, perhaps to cater to their intended audience. Yet not everyone whose child dies follows these beliefs. Not everyone believes in heaven or hell. Not everyone believes the soul continues on in its individual form after death, and that our children await us in heaven (only the greatest respect for those who do). But billions of people, including me, have different ways to understand what comes next and this must be acknowledged. Otherwise, these spaces can feel very isolating and lonely for our families.

I respect and deeply admire people of all faiths. Faith is an act of tremendous courage and love.

Currently, we humans have no empirical, scientific evidence of what actually occurs when someone dies. We have religions, and we have beliefs, many widely divergent. Wars have been fought over these beliefs. Historically, we have had difficulty co-existing peacefully with people who believe differently than us. But that is neither here nor there.

When your child is dying, it is time to have some honest conversations.

I’ve thought about what a heaven might be like, as I understand it (I’m not a religious scholar so I cannot speak to the full aspects of these belief systems with authority). The idea is comforting to me as a mother, in that it offers a transformative chance of family reunification.

Then I’ve gone a step further and wondered if Riaan did ever God forbid leave us, would he still have Cockayne syndrome in such a heaven? Would he be able to sit, stand, walk, talk, and feed himself? And if the answer is yes to these abilities questions, would he still be him? The individual form gives rise to more questions than answers, and none of them feel satisfactory. A continuation of the earthly existence doesn’t feel so heavenly, at least to me.

I’ve also thought about reincarnation, and wondered if it could ever allow us to continue our love but perhaps in different forms. Maybe in our next life, Riaan will be my mother. Who can say? However, if reincarnation is real, I can see how being trapped in the cycle of life and death can eventually feel weary.

The Sikh belief system (my faith), which views human beings as equal and sees the divinity in all people (God is in every cell so to speak, not in another place, far, far away), is structured a bit differently than most other faiths. Put in another way, the Creator is the Creation and the Creation is the Creator: as our universe - or the multiverse - continues to expand, both keep evolving in the most profound of ways.

Sikhs believe in a form of reincarnation, but the ultimate goal of every soul - each a spark of Waheguru (God), a speck of stardust - is to break free from the cycle of life and death and dissolve into the divine, like a droplet sinking back into the ocean. We believe that a soul transitions through different forms, across lifetimes, before it attains the enlightenment necessary to relinquish itself from this cycle. In this way, death is a transition, a return home to God.

That being said, we don’t need to die to experience this liberation, known as Jivan Mukti. Jivan Mukti is the highest state of consciousness and involves a merger with the divine that can also be experienced while alive.

I’ve often wondered whether Riaan lives closer to this state than anyone I’ve ever known. He lives in a meditative state, fully in the here and now. He is carefree and free of worldly traps. The burning winds cannot touch him. To express the divine is to remember and be the divine. But most notably, he is a being of light and love, who sees the divinity in all people, and expresses that love freely. I’ve never come close to a soul as free to love as him, and while I sadly am not there yet, I have learned so much from being around my son.

It is evident to not just me but to all who meet Riaan that he is unforgettable. Last fall, Riaan met my dear friend and accomplished author and speaker - the brilliant woman behind the Revolutionary Love movement - Valarie Kaur - for the first time, and he could not stop hugging and reaching for her. Even in a few moments, she instantly felt his light and love. To experience him is very different than experiencing most other people.

In this spiritual exercise, I’m daring myself to go deeper into a thought I’ve been too afraid to probe. If I trust in Sikhi, then what do I have to fear?

My greatest fear is losing him to death.

I’m not enlightened or liberated enough to find solace in the situation but I’d like to at least think about it, and talk about it. This is another way to approach death and the afterlife, and situations we feel we may not be able to control.

The Sikh perspective fully recognizes the blessing and miracle that is life - in fact we focus on life more than afterlife - and our will to make it better. This motivates me even more deeply to continue our quest to get more children treated with gene therapy for Cockayne syndrome. We believe in practical solutions and utilizing all of the scientific power in our arsenal to improve and enrich our lives, especially that of our most vulnerable - our children.

In Sikhi, there is no clear family reunification plan after death. We know that energy cannot be created nor destroyed, it can only change and be transformed. Envision an ice cube that melts into water and evaporates into vapor, disappearing into the air. It is this transformation we seek.

Through it, we hope to achieve a liberation of our souls, and one day meet with all other souls in existence, merging together peacefully and blissfully with the divine, intertwined in a dance of eternal ecstasy.

Therefore, as per our faith, Riaan won’t be waiting for me in heaven nor I for him. But we will eventually be part of the same sea, the ocean that binds you and me as well, dear reader.

Imagine if we could think and talk about death and the afterlife in these other ways, alongside typical Western frameworks. Or if we could even incorporate the views of those who don’t believe in God or the afterlife: grieving looks very different when you believe this life is all the time we ever have together in the form and way we understand it now.

I encourage the rare disease community to make room for these conversations, to expand our understanding together, so that we can embrace everyone, no matter their faith, or lack of faith, as we navigate the world of life, death, and grief.

There is great liberation in exploring these concepts. Let us do so, without fear, without hate, and always with love. For parents in our situation, intellectual and philosophical quests can also be a form of self-care.

***

We look forward to sharing more updates about Riaan post gene therapy, and next steps, including the path to treating more children, pending regulatory approvals. Meanwhile, please continue to spread the word and help us raise the funds needed to treat additional children. Thank you! Donate here.

by Jo Kaur, Founder of Riaan Research Initiative

(June 17, 2026) - Last week, on June 9, 2026, we had the honor and privilege of announcing that Riaan became the first child in the world to receive a gene therapy for Cockayne syndrome.

In less than five years, Riaan Research Initiative, with the support of our donors, research partners, and collaborators, moved an entire drug development program from concept to clinic. In the biotech world, this is extraordinary speed. It was possible only because you believed in us.

We want to take a moment to send a heartfelt thank you to everyone who has supported this work in any way. You are part of this remarkable achievement.

Read our press release here.

View and share our announcement video above and here.

We are also grateful to our many partners, including the global law firm Hogan Lovells, which helped us secure IND clearance from the FDA.

Read Hogan Lovells’ press release here.

Earlier this week, we had the opportunity to sit down with Andelyn Biosciences, our manufacturer, for a thoughtful and candid interview about Riaan’s story, parent-led drug development, advice for manufacturers and others in the industry, and reflections for rare disease parent-foundations beginning the exciting but complex journey of building treatments for their children and communities.

Most importantly, we were able to highlight the joy Riaan brings to our family and to everyone who knows him, and to honor the positivity and fullness of life that every child in our community brings to this world.

Below are two excerpts from the interview. The full interview is available here on the Andelyn blog.

We know many families are asking what comes next. Our hope is to help make this treatment available to additional children, pending regulatory approvals and continued funding.

That next chapter will require the same urgency, generosity, and belief that brought us this far.

Please donate here to help us continue this work.

Riaan Becomes First Patient Treated with Gene Therapy for Cockayne Syndrome

(June 9, 2026) — Riaan Research Initiative (RRI), a rare disease patient advocacy organization based in New York City, announced that 6-year-old Riaan Singh Digeorge, a Queens resident, has become the first patient to receive an experimental gene therapy for Cockayne syndrome, a devastating genetic disorder that causes premature aging and early death. Riaan received the treatment at NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York on April 21, 2026, via a neurosurgical procedure performed by surgeon-in-chief Dr. Mark Souweidane.

This groundbreaking milestone reflects the critical role of parent-led efforts to develop treatments for pediatric rare diseases when traditional pathways remain limited. It is the product of an intense, nearly five-year effort by Riaan’s parents, Jo Kaur and Richard Digeorge, who founded RRI in June 2021 shortly after their son was diagnosed, and the dedication of the Cockayne syndrome community. The organization raised nearly $4 million, helped move the program from concept to clinic, and built partnerships with leading academic institutions, scientists, clinicians, and regulatory experts. RRI collaborated on and fully funded every step, including preclinical studies at UMass Chan Medical School, toxicology studies at Charles River Laboratories, GMP manufacturing at Andelyn Biosciences, Investigational New Drug (“IND”) – enabling studies, submission, and regulatory review, and finally the first-in-human clinical administration at NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York in collaboration with Weill Cornell Medicine.

“We are blown away by Riaan’s superhuman resilience and good nature. He was laughing and playing balloon volleyball in PICU the day after neurosurgery,” said Kaur, founder of RRI and Riaan’s mother. “It has been seven weeks since treatment, and while it obviously hasn’t been easy, Riaan’s smile and zest for life carry us all forward. Each day brings excitement and possibility.”

Cockayne syndrome is a severe DNA repair and transcription disorder with no FDA-approved treatments. It causes significant brain atrophy, growth failure, vision/hearing loss, developmental disabilities and early death. Children who are more severely impacted, like Riaan, have a life expectancy of 5 to 7 years. The disease is estimated to affect approximately 1-3 per one million people and is one of many ultra-rare conditions where urgent patient needs often remain unmet under conventional drug development models.

The novel gene therapy used an adeno-associated viral vector, AAV9, to deliver a functional copy of the ERCC8/CSA transgene directly to the brain. Following promising results in mice treated with the gene therapy, including a lifespan increase of 8.5-fold, the FDA cleared the IND application sponsored by UMass Chan. Miguel Sena-Esteves, PhD, associate professor of neurology and genetic & cellular medicine at UMass Chan Medical School and director of the Translational Institute for Molecular Therapeutics, served as sponsor representative.

“Richie and I never imagined that our parenting journey would lead us to become drug developers, and we are grateful for the scientists and clinicians who helped us bring this treatment to our son,” continued Kaur. “It was not easy knowing he would be the first child in the world to receive the gene therapy. We were full of dueling emotions. But for hope, we took that leap. For love, we accepted the challenge. We are hopeful to expand to other children who are also awaiting treatment.”

****

RRI extends its deepest gratitude to its incredible team of scientific, clinical, legal, and regulatory partners who helped Riaan and the Cockayne syndrome community make history, including Miguel Sena-Esteves, PhD, Rita Batista, PhD, Dr. Terence R. Flotte, Dr. Eleonora D’Ambrosio, and Brooke Cooney from University of Massachusetts Chan Medical School; Dr. Zachary Grinspan, Clinical Principal Investigator, Dr. Mark Souweidane, Surgeon-in-Chief at NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York, and the Team for Interventional Genetics Evaluation and Treatment from Weill Cornell Medicine and NewYork-Presbyterian; Lauren Black, PhD and Charles River Laboratories, and AspireBio Consulting. Thank you to our manufacturer, Andelyn Biosciences.

We could not have done this without the generosity and counsel of our pro bono partners, including Blake Wilson, Esq. and Hogan Lovells; Tiffany Lucas and fellow regulatory advisors at ELIQUENT Life Sciences; and Dr. Brandon Michael Henry and the regulatory/CMC team at Aurelix Bio.

We also thank fellow rare disease parent advocates who have walked this path before us, Cockayne syndrome experts, and the global network of gene therapy scientists and clinicians who provided guidance throughout this process.

Last but not least, to our cherished patient community, fellow Cockayne syndrome patient advocacy groups, and to our donors whose love, fierce commitment, support, and advocacy continue to drive this work forward: thank you.

by Jo Kaur, Founder of Riaan Research Initiative

(April 11, 2026) - Let’s face it, astronauts are fascinating, heroic, and genuinely beloved: much like children diagnosed with rare diseases. Yesterday was a big day for the astronauts of Artemis II who successfully returned to Earth after a 10-day mission circling the far side of the moon, going further than any human ever has. It was also a long day for us, albeit in somewhat less consequential and history-making ways. Together though, across the vastness of space, our missions intertwined.

We took Riaan and Jivan out to Long Island’s North Fork for a (chilly) beach day. It’s beautiful out there, all the way at the end. We bought some brick-oven cheese and mushroom pizza in Greenport (modern parenting is your kids running the show), and enjoyed a brief picnic on the beach. For Riaan, we had brought along some homemade fruit and veggie purees since he is unable to eat solids. After we ate, we walked around for a bit, trying to shield him from the glaring sun and the intense wind, before coming upon a playground where the kids immediately headed for the swings. After a fun and aesthetically delightful day, we drove back home, which took over two hours thanks to that infamous Long Island Expressway traffic. Riaan missed his nap, and since he can never fall asleep in his car seat, he was pretty exhausted by the time we got in around 7 pm EST.

As we approached the front door, Riaan began asking for a bath, by literally shouting “baahhh,” his word approximation for bath. We flipped into robot parent mode, with the ultimate goal of getting the children to bed as quickly as possible. Richie bathed the boys, and I made a masoor dal. Shortly before 8, we finally sat down to eat: roti, dal, and a salad for Jivan, and a hearty yellow dal, egg, avocado, and oatmeal puree for Riaan. Richie left to park the car, which had been double-parked outside the entire time (welcome to NYC life). Suddenly, I remembered the Artemis II astronauts were scheduled to return to Earth, and that re-entry was supposed to be particularly nerve-wracking for them.

We flicked on the television, and sure enough the countdown had begun: about 14 minutes until splashdown. The crew had just re-entered the Earth’s atmosphere, a dangerous and dramatic adventure. NASA announced that there would soon be a planned 6-minute communications blackout. It was tense, exciting, and a bit stressful.

While watching, I explained to the boys what was happening, the historic nature of the moment. Jivan was mesmerized. Riaan could not have cared less. He was tired, did not want to eat, and he certainly did not care about astronauts trying to return to our home planet. While NASA’s Mission Control sweated through that 6-minute comms blackout, their famous calmness fooling no one, I stressed over feeding an extremely uncooperative Riaan. Every spoon, I begged him, just one more. One more. I gave him toys to throw, I sang to him. I was determined to finish the bowl before the astronauts splashed down, to get some solid sustenance in his system before bed.

Sure, Riaan wasn’t re-entering the Earth’s atmosphere in a capsule with a flawed heat shield, being bombarded with temperatures of 5,000 degrees Fahrenheit in front of the entire world, but eating when he was this tired, struggling through it, was an equally strenuous challenge for a vulnerable, medically fragile child like him with severe Cockayne syndrome. Every spoon he swallowed, we cheered, and soon he got into it too, grinning and rather pleased with himself. Meanwhile on the television screen, NASA showed us a visual of the capsule, as all of humanity waited with bated breath for news of whether Reid, Christina, Victor, and Jeremy had made it through the blackout alive.

It was incredible how the timing of the landing matched Riaan’s dinner intake, spoon for spoon. When NASA announced that they had successfully re-established communications, Jivan and I celebrated his brother and the astronauts. Riaan was about halfway through his dinner at this point. We looked at the TV, waiting to see those parachutes open, and soon enough there they were. I pushed and pushed, begging Riaan to eat just a bit more before the astronauts really stole the show. I couldn’t believe it, but he took his last spoon at 8:07 pm EST, just as the crew of Artemis II safely splashed down into the Pacific Ocean, finishing a monumental journey for all of humankind.

Our household erupted into roars, Riaan a bit puzzled by all of the excitement but humoring us by doing a little dance. At that moment, Richie walked in, watching Jivan and me dance, while I shouted, “Yes! Yes! You did it, Riaan! And you too Artemis II!” He stared at me like I had absolutely lost my mind. “I didn’t know the moon mission meant so much to you,” he said, laughing.

Well, little did he know! Riaan had eaten, and I felt like I had a small understanding of how those scientists at Mission Control must have felt. He had a tense 15 minutes - it was one of the hardest feedings we’ve had in some time, but we got through it.

Of course, few on the planet will know or celebrate Riaan’s story. Or the story of all of our children, diagnosed with these horrific rare diseases, and what they go through on a daily basis, trying to accomplish extraordinary things like eating or walking that the rest of us just take for granted. Eating an entire meal for an exhausted child with Cockayne syndrome is worth celebrating as much as astronauts re-entering the Earth’s atmosphere. There’s heroes everywhere, our children included.

Aside from this uncanny and mildly amusing experience, the Artemis II mission also left me with a few reflections that feel strangely relevant to the world of rare disease.

What We Actually Fear

Artemis II Commander Reid Weisman said something quite remarkable during the lunar mission.

He made this stunning observation during a spacewalk. I think about how when we first received Riaan’s diagnosis, many of the things we thought we would fear did not materialize. We thought we would fear not being able to handle Riaan’s disabilities, medical challenges, or the stress of daily life with the diagnosis. What we actually have to fear is external systems not accommodating him, and a society that does not see him as the full and complete human being that he is, as more than his diagnosis.

The problem has never been him: it’s everything else that comes with managing a complex medical disease and the healthcare, support, education, and benefits systems (or lack thereof) in America for a child with his condition. Riaan is easy and a joy to take care of, and we are so proud of him and honored to be his parents. He has transformed our ordinary lives into the most extraordinary and loving experience. Being his parents and working on the research to develop a treatment is the greatest mission we will ever have, and we take it seriously.

As Reid taught us, it’s not always the obvious that we fear, and a slight shift in viewing and understanding the situation can change everything.

The World is a Museum

The Artemis II mission has also had the side effect of pushing more of us to reflect upon the magic of our universe, and actually look up at the sky (and away from our phones), a privilege not to be taken lightly. For some around the world, the sky is a terrifying place, full of planes carrying bombs that wound or kill families. For those of us who can safely look up, we have the privilege of witnessing an infinite, twinkling beauty that leaves us struggling to understand our role in the broader world. Yet one thing is abundantly clear: space changes how we perceive and conceive time, and shifts our understanding of what matters.

For one, the entire universe is a museum! We don’t see stars, solar systems, or galaxies as they are in this moment. By the time the light of these places reaches us, their present is gone. We see only the past. These planets or galaxies may no longer exist, they could have burned out millions of years ago. To look up at the sky is to gaze upon a majestic and enigmatic museum.

So too is the rare life, especially when full of anticipatory grief caused by a shocking, life-limiting diagnosis for your child. Sometimes when I look around our house, with all of Riaan’s toys, adaptive equipment, his photos, his books, and clothes, I feel this strange sense of time contortion, as if I’m looking into the past and also the future - a future where he may not exist.

Our house becomes a museum of a life we are simultaneously living, grieving, and remembering, and having this feeling in the present distorts reality.

The truth and nature of our current reality become ephemeral. Since Riaan was diagnosed, I’ve felt a blurring of the past, present, and future, as if I’m living in all three spaces at once. It’s a bit surreal. The grief changes from time to time, and takes on a different shape, depending on which state permeates most sharply in a given moment. It’s haunting to think of life in this way, to look up at the night sky and view it primarily as a mirage.

As rare disease parents, we are so desperate to hold on to the present, to the beauty and joy of our current moment, to savor every laugh, every memory, every second with our children, but in doing so, we are sometimes grasping to hold onto water. And water is a slippery thing, it was never meant to be held (unless of course it changes form and becomes ice). Maybe we are here just to bear witness, and that’s okay.

I’m happy the astronauts had a wonderful journey to the moon, and returned home safely. I’m more delighted that Riaan ate his dinner. He shows us every day, how every act is tremendous and must be celebrated. He fell asleep instantly after splashdown, and I hope he dreamt of the moon and stars. He woke up this morning, as he always does, with a huge smile on his face and boundless energy. I remain, as always, in awe of him, and all of our children.

As the great visionary and poet Rumi, of Persia, once said: “You are the soul of the soul of the universe, and your name is Love.”

Riaan, our brave warrior, you are indeed this and more, and we love you to the moon and back.

****

Research updates: We’ve had an incredibly busy first quarter of 2026. We are now gearing up for the clinic and raising funds for the first clinical trial for Cockayne syndrome gene therapy.

More exciting updates to come, but please know we still need your support, in any way you’re able, to help us complete this mission.

Thank you. Support our work here. Every donation, no matter the size, helps!

(December 12, 2025):

Dear Riaan:

When you woke up this morning, I said: “Happy Birthday, my baby.” You smiled. I breathed a sigh of relief. You’d made it to six. No moment, no year is promised to us. For anyone, I suppose, but certainly for us.

What a wild and wonderful year it’s been! What a wild and wonderful six years it’s been!

You’re a strong, charming, radiant, and beautiful boy, and it just gets better and better. Your dad and I continue to be so proud of you, and want to assure you that you’re the perfect child we’ve always wanted. You enrich our lives with a love and joy that we don’t quite feel worthy of, and we cling to it, like a moth to a flame. As your dad often says, you make us better people. You’ve certainly made us kinder, more patient, and more understanding of the suffering of others.

I don’t know if soulmates exist, Riaan, but if they do, you’re mine. Ever since you were one years-old, you’ve slept in my arms, every night, except for two. You are the world’s greatest cuddle buddy; I love how you always snuggle right into my armpit and put your head on my arm. And if I dare try to turn to face the other way or move my arm, you protest, even if it’s 3 am in the morning. Yet I’ve never minded. Holding you close, I always feel my blood pressure drop, my breathing slow, and the stress of the day evaporate. I feel seen and understood on the deepest plane. There are moments like this with you throughout the day but it’s the nighttime routine that’s always among my favorite and most memorable parts of the day. I hope it’s yours too.

This year has marked rapid progress on the development of our gene therapy for Cockayne syndrome. We finished both toxicology studies and GMP manufacturing. We engaged consultants and drafted our Investigational New Drug application. We’ve raised the amount needed to fund the work to date. We still need more to get to the finish line as costs and tasks continue to climb but hey, it’s been a productive year.

I’ve had more intense involvement in the work than I ever could have imagined. For months now, I’m often in meetings, phone calls, drafting emails, or writing/researching, on top of fundraising, social media, and running the organization, which means time away from you. Instead of playing with you, sometimes I’m writing an email. I feel guilty about this, but then we do resume playtime afterward. It’s the balance we strike because we need to get a treatment developed for this terrible disease. I do hope you understand.

I know, my dear, you have no idea any of this is happening and that’s ok. Your job isn’t to worry about drug development or your diagnosis, it’s to play, live life, love, and enjoy, and you seem to be doing that in spades. This year I’ve spent many nights thinking about consciousness and where the powers that be will take us. Is there continuity or is this it? Is our time truly finite or does infinity in some form exist? Can we merge together in eternity, or do we rise together - tumultuous and ecstatic - suspended in this wave, in this moment in time, and that’s what we get? I suppose, ultimately, it doesn’t matter as much as the love we share now.

We have this moment, and it’s perfect. Let the wave of our time together continue to rise. I’m not ready for it to sink back into the sea. Let the medicines we’ve worked together to develop buy us the time we so hungrily seek. Let the power of our love guide us through this next difficult and uncertain phase. Let us hope, and continue to dream. Let miracles wash over us.

And in the meantime, let us laugh together. As much as we possibly can. You are a perfect delight. I can’t believe how lucky I am to be your mom, and I know your dad feels exactly the same way.

We know the burden you carry isn’t easy. There’s so much you can’t articulate to us. There’s times we try to help but may not succeed. We’ll never stop though. While we are flawed and imperfect, we’ll always be by your side, your loyal fighters, and try to build you the oasis of healing and peace you deeply deserve. We will rise together, dear one, without fear, no matter what lies ahead.

Let us hold your hand, beautiful boy, and enjoy the riches and blessings we have, as a family.

Happy 6th Birthday, Riaan. Here’s to so many more.

Love,

Mama

***

If you’d like to make a donation to Riaan Research Initiative in honor of Riaan’s 6th birthday, please click here. Thank you for your support!

by Jo Kaur, Founder, Riaan Research Initiative

(December 5, 2025) - Yesterday, I had a conversation with a scintillating speech therapist about wisdom and divinity, one of my all-time favorite topics. I said to him, “Riaan is as important as any other child because all children are equally important.” His eyes bulged, and he nearly sprang up from his seat. Locking eyes with me, he said, “We often hear how someone was a good person because they loved and took care of their family. But even serial killers have taken care of their families. Enlightenment is when you see the importance and value of all people.”

“Yes!” I said, nearly squealing, as I often do when I find a kindred spirit on this planet of ours. “All are equally divine.”

“Well,” he said. “We are hard-wired to protect our own to survive, but that’s a basic, primal instinct. To go beyond that, we must evolve, we must grow, that’s the illumination that I seek, that’s the wisdom that transforms the world.”

“Me too,” I whispered. “And I learned it from Riaan. He’s the embodiment of goodness, of selflessness. I yearn to be even a fraction of that.” My heart full, I walked away, and thought about our Thanksgiving.

To avoid the madness and germs of holiday travel, we took the kids for a quiet few days up into the mountains, for some R&R in the woods, complete with a hot tub. Thanksgiving was hearty and cozy. Due to work schedules, Richie and I took two cars. I took the kids up first and drove on a foggy, rainy, and super-trafficked Tuesday night. It didn’t help that the GPS took us on backcountry roads along the Hudson. Riaan was screaming and Jivan was complaining. It was not a fun ride. On the way back home, the kids decided they wanted to ride with Dad, and that was fine with me. Following them on the 2.5-hour drive back home, I couldn’t believe it. I was alone, in a car, with no kids, on a long drive. You see, for a stay-at-home mom, this is a rarity. I never get this kind of “freedom.”

I blasted adult music, I sped (shh, don’t tell), I felt guilty (only for a moment), but mostly I stayed behind Richie and the kids, sipping my coffee from this fancy shop in the tiny mountain town we had stayed at that always makes me feel so good. Watching his vehicle, I thought, “That car contains my whole universe. The people I love the most. I have to keep them safe.” I felt that I had to stay behind them to protect them. (How? Don’t ask for logic here. It made sense in the moment).

Then I turned my gaze to the other cars, and thought: “Well that’s a whole universe for someone else. A universe that matters just as much as mine. And they need to be kept safe too.” What a thought, what a moment of enlightenment. This is how Riaan lives, I pondered. This is how he is: the ultimate reflection of altruism and pure love.

Riaan has taught us that love shouldn’t stop at the edges of our own family. It should expand outward - to every family facing a rare disease or Cockayne syndrome diagnosis. That is why our work matters.

End of Year Fundraising - The Countdown to Riaan’s 6th Birthday

I share these tales to ask you to help us save as many universes, to help as many children diagnosed with Cockayne syndrome, as possible. We’ve launched our End of Year: The 12 Days of Riaan birthday countdown. Riaan turns 6 on December 12th, and we are looking to raise $60,000 by December 31st to facilitate CSA/ERCC8 gene therapy drug product release, shipping, and storage. This funding allows us to take the next step toward bringing this historic treatment closer to children.

Will you support our work and donate today?

We are also seeking major donors, willing to step up and help fund the full $1 million needed for a clinical trial. Please reach out to info@riaanresearch.org if interested. Thank you!

And a very Merry Holidays to everyone!

by Jo Kaur, Founder of Riaan Research Initiative

(November 10, 2025) - It’s been a very intense few months. We have been knee-deep trying to wrap up our gene therapy program to present a neat package to the FDA: lengthy meetings, troubleshooting, email exchanges, plan changes, document drafting, and the endless but honorable grind of pushing, organizing, and advocating as much as possible to move our therapeutic program closer to the treatment phase.

There’s much to be done, more money to raise, and minor studies to complete, but we have made significant progress toward our Investigational New Drug application with the FDA. Riaan continues to be our North Star, driving the team forward. A full, highly skilled, and dedicated group stands behind this effort: consultants, clinicians, scientists, program managers, and Riaan Research Initiative, all united in our commitment to children diagnosed with Cockayne syndrome. None of this would be possible without our incredible donors, and we will never tire of thanking you (thank you!).

Riaan turns six this December: for him, for every child with this devastating disease, reaching another year isn’t just a successful trip around the sun: it’s a triumphant exploration of the Milky Way, followed by a safe return home.

Though Cockayne syndrome continues to leave its devastating mark on his body and brain, his energy, curiosity, and zest for life remain boundless: he enthusiastically walks from the street to our door with minimal core support and excellent weight-bearing, he loves interactive games like balloon volleyball and hour-long video chats with Nani Ji, and rides on his tricycle, balancing himself for long periods. He continues to show strong communicative intent and language skills, and most importantly, awareness: for instance, he signs for his pacifier when he’s tired, says a few word approximations for daily routine items, rolls his eyes at his brother’s antics, babbles and “talks” all day, and laughs right along with us. He is fully present, he is here and sharp, and possesses an infinite treasure trove of light and love.

Riaan reminds us that while imaging and other clinical tests can reveal the hardware of this vicious disease, it cannot capture the soul, essence, resilience, and spirit of our children, which remain nothing short of Olympian. And to that end, we are committed to clearing every obstacle in our path to get him, and other children, treated.

With Riaan and the work always on my mind, this weekend felt like the first breath I’ve taken in quite some time from the grueling pace of recent months. While exhaling, I took a longer scroll through social media, and that’s when I caught my breath again. Suddenly, I could no longer breathe.

I came across a news story that instantly filled me with sorrow, an understanding that I wish I did not have, that I desperately wanted to escape.

The story was that of a beautiful single mom, originally from the country of Suriname, and her extraordinary 15 year-old daughter. The mom, in her early 40s, was an extremely successful breast cancer surgeon here in New York. Her daughter was a high achieving student. On Instagram, they clutched each other, laughing, and posting: “There isn’t a world where we exist without each other.”

Then something terrible happened and everything changed.

I don’t know this family at all. I don’t know the full story. Here’s what has been reported. The daughter was diagnosed with an aggressive form of leukemia. A week after her diagnosis, just a mere week, she passed away from acute liver failure. A few weeks later, her mother died. None of the news reports or public statements tell us the mother’s cause of death and instead invite us to read between the lines.

There was a link to the mom’s Facebook page on the articles. Of course I clicked on it, and read every publicly available post she ever wrote. The mom, who I find to be fascinating and brilliant, described her endless love for her daughter, celebrating her as she grew older. She had a fondness for quoting the work of Paulo Coelho and Maya Angelou, and it was evident she carried a giant heart and resolve, managing to put herself through a grueling five-year surgical residency despite being a single parent. Her work paid off: she became one of the most competent, compassionate, and beloved cancer surgeons in New York, helping to heal so many others. And now she and her daughter are both dead in utterly tragic circumstances, within weeks of one another.

I devoured every bit of this story, crying as I read, because I am heartbroken for this family and for all who love them, and can relate to it. Certainly any parent who has a fatally ill child, or has lost a child can relate to it. But the elements of this story that really stood out to me: the intense love and bond between mother and child; the unyielding strength of the mom, a gifted surgeon, and what she had achieved as a single parent; and yet nothing she had built could support her during her time of ultimate grief, during a pain so wretched it is usually discussed only in whispers.

Her story forced me to confront an uncomfortable truth: even the strongest and most successful among us can collapse under the weight of grief, especially when community and society offer so little room to fall apart, and hardly a finger to help us get back up on our feet.

Who will save us from our grief? It’s a question we should ask more openly. Mothers in particular are often coerced into supernatural resilience, expected to overcome, and yet not all of us do despite how much career success we may have achieved, or how strong we appear to others. The physical toll of the ultimate grief is also substantial: it is possible to die with a broken heart (and to reiterate, I do not know the cause of death here, only that it was sudden).

From what I have observed, very few grieving people have adequate support systems. Our societies aren’t set up to cater to our needs. And a few likes on a social media post where we express our grief or talk about our children aren’t the kind of support I’m talking about.

Processing grief requires stillness: to triage the wounds, we must stop time; to heal, we must descend to depths below the light and sound barrier.

For many, it may also require divinity and the wisdom of community, to empower and shield us as we transform: after all, none of us will ever return to who we once were. Yet we live in a fast-paced, keep-going, move-on kind of world that rarely allows this pursuit.

We have to do more for grieving parents, both in the anticipatory grief stage, and after. I’ve written extensively on grief, my views on death, faith, and the afterlife, and how we approach these topics in the rare disease community. Perhaps one day I’ll find the courage to share. I believe intellectual and philosophical reflection are important forms of self-care, and it is certainly better to openly discuss and deliberate these issues than to keep them in.

Too many of us suffer silently. The consequences, of course, can be deadly.

My main takeaway for you from this post: never assume that strength equates to the well-being of a person.

The myth of the support system isn’t that it doesn’t exist, it’s that we believe strength means not needing one. We all need a little help to grieve and heal, and this is certainly the case while navigating what experts describe as one of the most consequential and devastating losses a person can ever experience - child loss.

It is my sincerest hope that we come together to create the support system we all need, on and offline, for all grieving people, including those experiencing anticipatory grief.

Meanwhile, we happily and eagerly continue the work to build treatments for Cockayne syndrome. Stay tuned for exciting updates in the coming months!

****

Become our ray of light! Please help us fund the first clinical trials for Cockayne syndrome and donate here.

(September 11, 2025) - Five days before we left for Bermuda, on our first international trip with Riaan and Jivan (“Lu”), I looked at a map of the world. I knew we only had one more week before Richie returned to work, and so far, we hadn’t gone on any plane trips this summer. We had just returned from out of town after a challenging visit to a children’s hospital/specialty clinic in Pennsylvania, which wasn’t exactly fun in the sun.

As a methodical trip planner, I was about ready to give up. I figured we didn’t have enough time for anything fancy, and it was probably better to stay nearby. Riaan had not done great on the car ride and trip to Pennsylvania, so it would be too much to even think about air travel, much less international air travel.

Defeated, I began scrolling through my phone, and that’s when I started texting with a friend, a dad of a child with another horrific rare disease, who told me about how they had just returned from yet another exhilarating trip to Hawaii. He said they’d gone there for their son’s Make-a-Wish trip but loved it so much they went back a few months later. They didn’t regret a thing and stayed at a resort with all of the amenities they could need.

Hmm, I said, as the wheels in my head started turning. But where would we go that wasn’t such a dreadfully long flight (3 hours max!)? I had been tossing out Nova Scotia as a possible idea all summer. Richie and I had traveled there before we had kids and loved it, but I don’t know, I also kind of wanted to go somewhere totally new. I felt like I needed some re-energizing as well. It’s been a summer. Hell, it’s been a year - a few hard years.

Our trips are a lot of work. Maybe it was time to also finally treat ourselves, as parents. I know another CS family from Australia who had traveled to Fiji and lived that resort life, and I thought of them.

Pulling up the world map again, I stared at the Caribbean Islands. Shifting my eyes north, I triangulated onto Bermuda. I’d always dismissed Bermuda because tourists aren’t allowed to rent cars - which I thought might be too hard for us - and also it’s just so damn expensive. I did not know anyone who has gone there, believe it or not, and yet it was less than a two hour direct flight from JFK.

Ping. My friend was texting me about how his mother-in-law had wanted to visit Hawaii but never got there during her life. That settled it. There was no time to waste. I felt a strong yearning to live, to do something drastically different (for us). Last year, we had almost gone to Belize: this year, it seemed like we’d try for Bermuda.

A plan began to take shape. I called Richie, who said he’d be open to it but only if we booked for a few days out as he wanted some time to prepare. I booked the flights, secured the travel insurance (to include pre-existing conditions!), and then spent the next two days trying to figure out where to stay. Airbnb? Hotel? Resort? And what part of the island? I researched hotels and vacation homes, studied online threads, and made contingency plans to ensure a smooth, healthy trip for everyone.

I think the parent who is not the trip planner is usually surprised by how much work is required for travel. We can’t just show up!

Not with kids. Not with a child with Cockayne syndrome!

The night before we left, I fell into despair, publishing one of the darkest posts I’ve written, a climactic and cathartic release of the grief and anxieties I have about Riaan. I worried the trip to Bermuda was a bad idea and that Riaan wouldn’t be able to handle it.

Too late now. Everything is booked. We’re going.

From NYC to Bermuda

Early the next morning, we raced our way to JFK, stood in the long check-in line, breathed a sigh of relief when the very kind airport employee ignored our bags being overweight, stood through the less lengthy TSA pre-check line where I sweet-talked the agent into not going through the extensive screening on our food/drink bag by oversharing my mom nerves (he just wanted to get rid of me!), and soon we were at our boarding gate with ample time to spare. We decided to park out near an empty gate, fed the kids, let Lu run around, and were on the plane before we knew it. The flight was on time and fantastic: after we ascended, it was only about one and a half hours long. The kids had some drinks, and even took a brief nap. I held Riaan, and Lu sat in the window seat.

As soon as they announced we were descending, we woke the kids up, put their shoes on, and secured our carry-on items. Looking out the window for our very first glimpse of Bermuda, as our pilot jubilantly announced the perfect weather we’d soon experience, we gasped in shock at the beauty of the azurean waters gently nudging a lush green strip of land. The plane shook fiercely, that famous Bermuda triangle spirit in full effect, as we approached the landing strip in St. George.

We were one of the first ones off the plane, which put us in a great position for Bermuda immigration and customs. Unfortunately, our gate-checked stroller was the last to come out, and we wound up in the back of a long line. This is when the kids began to crumble. Lu started crying and complaining that he wanted out and would not wait in a line - we desperately tried to calm using Bluey - and Riaan would only be held, crying if his brother cried. Everyone stared at us.

Eventually, we approached the immigration officer, and that’s when I realized I had messed up big time. I had filled out our arrival form online but apparently they needed one for each family member, not one per family. Cursing myself, I stepped to the side, and frantically tried to complete the long forms while Lu ran around causing chaos, trying to enter the country before we were admitted, and Riaan cried at the top of his lungs in reaction to his brother. Finally, we submitted the forms, the officer stamped my passport, Richie’s passport, and Lu’s passport, and handed them back to me. When he got to Riaan’s passport, suddenly there was a long pause. He left his counter, and walked over to another officer where they had a stern discussion that seemed to last an eternity.

What in the world is going on? Just stamp his passport so we can get going already!

He came back and patiently explained that since it had been so long since we’d deplaned, that our flight was no longer active in the system. The three of us had made it through but not Riaan. Not to worry, he said, it would just be another minute or two. Not long after, he stamped Riaan’s passport, and off we went.

Despite our tomfoolery, the atmosphere at immigration was very relaxed. There was no armed official glaring at us, it was extremely family friendly and inviting.

We made our way to baggage claim - our bags were already there and waiting - and suddenly Lu did not want to leave the airport. We had no idea why, but Richie carried a crying Riaan, pushing our luggage cart, and I carried/dragged a kicking and screaming Lu, pushing an empty double stroller and our carry-on luggage. Customs didn’t even stop us.

Arriving in Bermuda

We found our ride waiting for us - it’s always cool to be greeted by a handsome, charming fellow holding a sign with your name on it at the airport - and out we went. As soon as the sliding doors opened, and we entered Bermuda, the kids quieted immediately, humbled by the heat that had washed over us.

It was high noon. Humid, hot, and intolerable. I immediately looked at Riaan who was pale, and remembered that he cannot sweat because of his condition. I had also forgotten to put sunscreen on the boys during the flight! Sweating myself, I began to panic.

What was I thinking bringing him to this sauna? We’ll never be able to go outside! We raced to the van, and I asked the driver to turn the AC on max. I grabbed the water, made Riaan drink some, put some on his back, neck, and face. As the cool air hit us, we all calmed, and soon we were on our way to our seaside resort in central Bermuda, in Warwick, gazing in wonder at the tropical scenery laden with postcard perfect palm trees all around us, winding our way past the colorful homes and buildings.

A brilliant smile, inspired by the lively conversation from our driver, began to take shape on our travel weary faces. We drove by Bermuda’s most famous and oldest pub, The Swizzle Inn, and I remembered reading about it just the day before. How exciting! We passed the mysterious Crystal and Fantasy Caves, through St. George and Hamilton, and finally were on our way to Warwick.

I fed Riaan a bean and banana puree as Richie held him (no car seats on this trip), and he ate the entire thing. Lu, sitting on my lap, ate a peanut butter and jelly sandwich. Another pro tip - we didn’t bring car seats but I did use our car seat bag for Riaan’s high chair, a beach chair, his mat, and also diapers - it worked like a charm, thankfully, and we were able to check it in for free.

Twenty-five minutes later we were at our resort.

The Resort

We have never stayed at a more stunning place as a family. Greeted with Bermuda’s renowned hospitality, rum swizzle and tropical juice welcome drinks, we entered our sanctuary. The staff (we were good friends by now through email!) had decorated the room with balloons - Riaan’s favorite - in anticipation of his arrival and knowing what this trip meant for our family. They had also stocked our fridge, and kitchen with pre-ordered groceries (another pro-tip!). In Bermuda, you can get (extremely costly) groceries delivered through an app, and it’s amazing. Our suite was enormous with two ocean-facing balconies. It felt like arriving home in paradise.

We rushed the kids into the luxurious walk-in shower, and I cooked a pasta for lunch.

The weather remained this way the rest of the trip: mornings and late afternoon to evenings were optimal weather for Riaan. From around 11 - 3 pm, it was fairly hot and sunny/exposed, so we usually tried to stay indoors unless cloudy and we could squeeze in some infinity pool time.

Thirty minutes later, with a cup of espresso, I went on a Zoom meeting for Riaan Research Initiative and made everyone jealous of my surreal background (it looked like a filter!). The work to develop a gene therapy for Cockayne syndrome doesn’t stop despite the travel! Not at this critical stage. I wound up having meetings every day - during the business week - with our preclinical, clinical, manufacturing, and consulting teams but I didn’t mind. There’s nothing more important: I am grateful for every opportunity to move this work forward.

After lunch, we finally got the kids down for a brief nap, allowing us to unpack, relax, and take in the views.

We’d made it.

The Next Few Days

We played in infinity pools and the sea, ate at the most delicious restaurants, explored a cave (where Lu tried to jump into the natural pools), and met some incredible traveling families and locals. We switched resorts mid-way, and moved across the island for harbor views, to experience riding the ferries, and enjoying the island’s urban life: Hamilton, Bermuda. I had the most delicious vegan pizza I’ve ever had in my life in Hamilton, at a stylish, hip place called The Pickled Onion. I’ve never seen a waiter handle kids better than the one we had at this restaurant.

Riaan ate, drank, and slept well throughout the trip. He was full of good health, color, and smiles. He rarely complained and was very aware and lively.

One morning we took a taxi to Elbow Beach, and I’d forgotten to bring along water. The cloudy morning quickly gave way to a bright, merciless sun. We spent a little time in the waves but decided it was too exposed for Riaan, and without water, we were taking a big risk. We walked back to the main road, and I couldn’t get a cab on the rideshare app; however, we were quickly able to hitch a ride back to the hotel. We didn’t have to wait for long: someone saw us stranded and was more than happy to help - that’s how it was the entire trip. Everyone in Bermuda felt like family.

For us parents, this trip was also more relaxed than any we’ve ever taken. Our hotel suites all had kitchens, washers, dryers, a separate bedroom and living area, along with balconies/patios, and we had access to the hotel concierge service to call taxis and get tips, plus the restaurants, room service, and amenities including the many pools. None of the resorts were overcrowded: we usually had the amenities to ourselves or only a few other families with kids, allowing us all to play and hang out together. We have never felt so pampered.

The Iconic Moment at Horseshoe Bay

One afternoon, following a wondrous tropical rainfall, we took a taxi to Horseshoe Bay, not far from our hotel. Horseshoe Bay is Bermuda’s most famous pink sand beach. It is normally packed, especially with boat cruise crowds but today we had the entire place mostly to ourselves. We saw schools of fish in the water, the (subtle) pink sand that makes Bermuda’s beaches world famous, and the iconic formations in the water that shape the dramatic scenery. We experienced the embrace of the cerulean waves - the sea in Bermuda was always inviting and warm - and were on the lookout for the Portuguese man o’ war (thankfully we didn’t see one!).

As Lu and I splashed in the water, Riaan was more timid. He enjoys pools more than the sea. He got his feet wet, but was more interested in being held by his dad and laughing at Lu’s antics.

One thing that I noticed about Riaan is that usually whenever we go on outings, he’s always eventually gesturing to leave after a short while. Never in Bermuda. Not once. He enjoyed every single outing, and never tried to get us to leave.

During one particularly rough wave, Richie grabbed Lu’s hand and I met Riaan’s eyes. I was caught off guard as he pulled me into a moment, hugging me with so much love and affection, gazing deep into my eyes, that the beauty of the sea completely disappeared. Riaan often shows me profound love but this moment exceeded anything I have ever experienced before. We felt connected, in a cosmic way, mother and child, our embrace lasting several minutes.

Here I was standing in the scintillating waters of the Atlantic and all I could think about was how no other human being has ever loved me and shown me how much they love me like Riaan.

I’ll never forget this moment and if we ever return to Horseshoe Bay, I’ll be sitting in the sand, thinking about it. The memory and moment Riaan and I created was so tangible that I have no doubt it has a permanent home in the pink sands of this beautiful place.

An Unforgettable Walk to the Store

One night, I cooked tofu vegetable curry with brown rice and yogurt, and fed the kids on our balcony (Riaan’s was pureed). Richie walked to the gas station about ten minutes away to pick up a few essentials. When he came back, we went down to the restaurant for some ice cream. A storm was brewing, and all of the diners had moved under a canopy. We saw bolts of lightning shoot into the sea, and heard the faint sounds of thunder.

The restaurant staff tried to steer us under the canopy as well, fearing the skies would soon burst open. We said we were fine: the children were simply delighted. As we waited for our ice cream - to go - Riaan lifted his face up toward the breeze, smiling from ear to ear. Lu ran around the pool, holding my hand, squealing in excitement. The air was palpable with electricity, an intensity, an energy more ancient and powerful than all of us. The wind was fierce, and while we felt heavy drops every once in a while, the rain held off. The waves pounded against the shore.

As we returned to our suite, Richie realized he’d forgotten an entire bag of items at the gas station. Immediately, I volunteered to go get it. “Are you sure?” he asked. “It’s really dark, there’s a lot of cars, and the sidewalk isn’t always there.”

“Yes, yes!” I said. “Will the kids be ok?!” Lu said yes, he was eating ice cream. Riaan was calm. I practically ran out the door.

I carefully crossed the busy street, weaving back and forth to stay on the sidewalk, sometimes stepping onto the grass or even the road. Cars, motorcycles, and scooters raced past me, so close I could feel the tingle. I truly felt like I was on a tropical island in the middle of nowhere.

In the store of the gas station - it could have been from any part of the world, nothing particularly Bermudean about it - I picked up the bag Richie had left behind, thanked the cashier with probably more excitement than was appropriate, and made my way back, walking more slowly this time. The rhythm of the wind felt intoxicating. I shouted into the breeze how much I loved Riaan and Lu. I thought about how words alone are not enough to convey the depth of what I feel for my children, what we feel for people we love. Even a hug, a kiss, isn’t enough.

Maybe this is the burden of my soul where I feel so deeply but lack the tools to adequately express it.

Nevertheless, on this walk, I felt alive, beyond the usual constraints of motherhood. I was back to being a person, and in the most basic form. Being alone, during a thunderstorm on a Bermuda night, had transformed me into a being of pure love, joy, and happiness. Just another spirit walking on an ordinary Thursday evening, through the thick black darkness, as the ocean and the air raged in synchrony, making my way back to a fancy hotel room.

As the wind whipped against my cheeks, I felt safe and protected in a way I’ve never felt in the States. Skipping along the road, I smiled. Nothing could harm me here. There was no pain, no grief. Only the nectar of bliss.

Leaving Bermuda

On our last night, we rode ferries and danced along the dock, listening to the music from the party boats in the harbor. Eve’s “Let Me Blow Your Mind” was playing full blast. Lu is now obsessed with the song, and refers to it as the Bermuda song, asking me to play it daily.

At the airport, we were able to clear US immigration and customs before we boarded. I was also able to use my credit card’s Priority Pass to access the airport lounge and feast on free lunch and drinks. Riaan for the first time grabbed a cookie, put it in his mouth, chewed, and successfully ate half of it! Lu was cheering him on, he was so happy to see his brother eat solid food instead of just a puree. Kids notice everything.

On the flight back, as the plane lifted above Bermuda, we all looked outside the window with sadness, but also fatigue. It was a good trip. Riaan tried to eat another cookie during the flight but we hit such a rough patch of turbulence that it felt like we were on the Tower of Terror, and he gagged. Tightly clutching the kids, I felt mild panic. However, once we cleared that turbulence, and were out of Bermuda airspace, the ride was smooth, and the rest of the flight was uneventful.

When we landed, we were able to go right to baggage claim as if we had been on a domestic flight.

As soon as we got in, Lu asked to get back on the plane and return to Bermuda, expressing what we all felt. I achingly remembered the nights on the balcony, sitting with both children on each leg, watching the stars and hearing the indescribable sounds of the sea. There is magic in this world, plenty of it. We just have to remember to turn to it.

Does Bermuda miss us? Will Bermuda remember us? We will remember Bermuda, a paradise we never knew existed so close to us, so gorgeous, so effortlessly perfect.

For us, the only thing that disappeared into the mystery of the Bermuda triangle was a bit of our grief, replaced by unforgettable moments and joy.

The land of pink sands definitely blew our minds. While Riaan often enjoys trips, I would say he possibly liked this one the most, and I was thankful everyone stayed healthy during and after the trip. We pray, work, and fight for many more of these moments with our beautiful boy.

***

Join the fight for a cure—support #Ride4Riaan! 🚴‍♂️

This October, Winty Singh will tackle 200 miles in a single day on his quest for the California Triple Crown. Every mile Winty rides brings us closer to a gene therapy that could give Riaan - and children like him - more days filled with precious family moments, joy, and adventures. Donate today and help make this life-changing and potentially life-saving research possible.

by Jo Kaur, Founder of Riaan Research Initiative

(August 26, 2025) - I took a walk with Riaan this evening, holding him in my arms, worried as always because at 5 years-old, he should feel a lot heavier than he does. He shouldn’t feel so light, like air, as I snuggle him close, breathing in the smell of his fragrant, chocolate brown hair.

We ran into one of our neighbors who is always fond of him. Riaan took a moment to steady his gaze - the nystagmus more severe today because he missed his nap - and then reached out to offer his hand. Our neighbor shook it, giving him the biggest smile, and then looked at me, his eyes full of deep sadness. He was sad while looking at Riaan. There was no mistaking it. To him, Riaan did not look well. He could see the marks of the disease trying to chase my little boy to the grave.

We walked away, and I felt hot tears rolling down my cheeks, a reaction I didn’t expect and could not control in the moment. You see, we had a similar incident just last week, except it was at a doctor’s office - a specialist’s clinic. As the physicians and research assistants crowded into the room, very kind, knowledgeable, and friendly, I saw the way they looked at him and talked about him. They didn’t see him as Richie or I see him: a perfect little boy, full of awareness and life. Now they did see his humanity but they also saw his sickness, in a way that we as his parents don’t. I felt a stab of irrational anger: how dare they?

Yet in my heart of hearts, I know the disease is progressing. I know the neurons are dying. I see him zone out from time to time, and as much as I convince myself it’s a moment of wisdom, of ultimate enlightenment, and maybe it is, that’s not entirely it either.

So my fleeting moment of rage was irrational, yes, but it was visceral and shaped our interactions. We parents of children with severe rare diseases always think our children look and are healthier than they are, we always describe them as stable. This can create tensions with healthcare providers.

I once thought this was a feeling only I had but I came upon this study from Boston Children’s Hospital that instantly made me feel less alone: “I Could Never Prepare for Something Like the Death of My Own Child”: Parental Perspectives on Preparedness at End of Life for Children With Complex Chronic Conditions.

I made myself jump into the abyss, and read the entire thing in one sitting, more hot tears flowing down my cheeks.

We will never be prepared for the death of our child. It is not possible.

We describe our children as stable even right before the very end. In our heads they are healthier than they seem to others.

We are always waiting for that miracle. Many of us think it will come. The alternative is just not possible. How can it be?

We will never fully accept or be ready, no matter how many hospital visits there are.

And I don't know this pain yet and I hope I never do but the end is beyond our worst nightmares. The last horrific gasps, as both souls leave their bodies, parent and child.

I don’t know how anyone survives this pain, how they’re strong enough to deal with the intensity of it. Many bereaved parents go on to do tremendous, beautiful things with their lives. But I cannot even conceptualize having that kind of strength.

It’s why I fight as hard as I can now because the world after is a barren land where I am likely destined to wander, a haunted soul, full of grief and turmoil. I wish, of course, that I was stronger.

This kind of experience - people say it makes you more resilient. I don’t know. I think it does in different ways for people. But for others, we become noodles, we cannot tolerate more pain.

There is a lot of pressure to be hopeful and positive, and usually I am, primarily because of Riaan and what he has taught me. People also don’t want to interact with a perpetual ball of sadness. It’s too overwhelming for most, and I understand that. It would probably be too overwhelming for me if I wasn’t sitting where I am now. Now I yearn to be around this level of awareness; I need to be around people who have or are experiencing similar pain and grief because our shared understanding decreases the isolation.

But there’s bad days, there’s dark days, there’s days when you don’t think you can keep up appearances, and you see how frail your child has become, how the months and years bring immense change, when all you want to do is stop the clock. Except for the treatment development clock — that one needs to accelerate! Perhaps then we can live on an exquisite planet where time passes slowly as Riaan and I just gaze into each other’s eyes, embracing the pure, unconditional, sacred love that defines who we are while the scientists in the hovering spaceship nearby work at light year speeds to get the treatments ready.

Even in these dark moments though, my will and belief in Riaan, and the actual hope behind the work to develop treatments, is unyielding. Exciting progress is being made, and while we can’t move at the speed of light, the fact that we are moving toward the sun at all is breathtaking. The light at the end of the tunnel awaits.

***

My dear friend Winty Singh is riding 200 miles in one day for children with Cockayne syndrome. This will be his fifth #Ride4Riaan for Riaan Research Initiative. There is incredible hope in the research and the path forward. A labor of love inspired by Riaan and for the benefit of the beautiful children within the CS community. We need your help and support to file our Investigational New Drug application, and get us to clinical trials. Donate here. We can’t do this without you!

(August 1, 2025) - One morning, Mark Pelson walked into a local Starbucks in the Rhode Island town where he lives with his family, and the barista, while filling his order, looked at him closely and said, “Hey are you Sarah’s dad?”

Mark laughed and asked her how she knew. She said Sarah would come by often, and had shown her a photo of her dad.

“She has a whole world out there that she's created, and we don't even know about it. It’s kind of neat,” said Mark.

Journey to a Diagnosis

Mark and Katherine Pelson’s daughter Sarah is 31 years-old today with a diagnosis of Cockayne syndrome. She has Type 3, which is considered “mild,” with patients showing symptoms in early to mid childhood and living until early to mid adulthood.

The journey to her diagnosis wasn’t easy, and it was made more challenging by the fact that there wasn’t even a genetic test for Cockayne syndrome at the time.

“We knew from a young age that something was a little off with Sarah. Her doctors, her specialists thought it was mild cerebral palsy. But they didn’t know what was going on, not even the best doctors, and no one ever felt it was that serious.”

That is, until Sarah turned 8 years-old and began losing her hearing. Mark and Katherine took her to Boston Children’s Hospital where they met Dr. Edward Neilan. While Dr. Neilan had not met a CS patient before, as soon as he learned Sarah’s symptoms, he told the family after doing some research that he strongly believed she may have an ultra-rare, life-limiting condition called Cockayne syndrome.

In 2002, there was no genetic test for CS, and this type of testing was not covered by insurance. The Pelsons, working with Dr. Neilan, wound up funding the creation of the first CS diagnostic test in a clinical setting, adding it to the whole exome sequencing panel.

Soon after, Sarah was tested and sure enough, the results returned positive. She had a mutation in CSA/ERCC8, one of the genes implicated in the disease.

Mark immediately began researching CS, and looked at the photos of impacted children: Sarah didn’t fit the profile. It didn’t make sense.

Turning Point: From Parents to Advocates

In the years following Sarah’s devastating diagnosis, Mark began to explore what kind of organizations were involved with helping patients with CS, and came across Share & Care Cockayne Syndrome Network. The organization’s primary focus was support, a critical need, but Mark wanted to direct his efforts to advancing research, and hopefully, the development of treatments.

Through Share & Care, Mark was able to connect with other CS families, including the family of Luke O’Brien and The Luke O’Brien Foundation, who were also interested in driving research. Together, they pooled their resources and invested in Dr. Neilan, whose interest in CS had been ignited by his diagnosis of Sarah. The families committed a large sum of money, with the hope of moving basic research toward translational science, and the development of treatments that could actually be delivered to children.

“Our initial work involved partnering with Ed and a group in Japan engaging in assay development. We tested different existing drug compounds to see if any could be used on children with CS.”

Mark explained that, at the time, their strategy was often as simple as “find someone even remotely interested in CS and fund their project.” Things didn’t always pan out as planned, however, as is the case in the world of science.

Meanwhile, Mark and Katherine had to create time for their new reality, taking care of their firstborn daughter diagnosed with Cockayne syndrome, and her younger, non-affected sister. The Pelsons, realizing there wasn’t much by way of education for Sarah, helped found two schools for children with disabilities, and remain on their boards today.

Mark recalls Sarah loving school, every step of the way. Sarah started a cheerleading squad in elementary school, becoming the first cheerleader. “I still remember her in her uniform,” Mark says fondly.

Sarah simply loves being the center of attention and adores all of the positive attention she gets everywhere she goes, according to Mark. In high school, she sang a song for her rock n’ roll class, and “just had a blast.”

“People call Sarah princess, and she just loves it,” says Mark, further describing his older daughter’s obsession with getting her hair, toes, and nails done, and her exuberant love for life.

“Sarah just gets so much joy out of life. She’s very talkative, and smiley with everyone she meets. She loves physical therapy, she loves going to lunch, she loves going to the same places. She always gets a free brownie,” he says, laughing.

But as any family of a child with a rare disease or disability knows, the attention isn’t always positive.

“Over the years, sometimes people have said things, or often it’s parents who let their kids say things. I’ve had to confront some people directly. I have zero tolerance for that kind of behavior,” Mark notes sternly.

The family has been able to travel around the world with Sarah, which she has enjoyed immensely. On a visit to the Great Wall of China, as Mark and his friend carried Sarah to the top, Mark recalls other tourists taking photos of Sarah as if she were a display, an object. He remembers calling them out, the anger he felt.

“Fortunately, Sarah has never been exposed to the negativity. She has only ever seen the positivity.”

A Case Study in Translational Science

Frustrated by the slow churn of science and recognizing the progressive nature of the disease, Mark began digging into CS symptoms, and proposing his own research studies. He learned after Sarah had an MRI that she had calcification of the basal ganglia. At the time, he didn’t know what a basal ganglia even was but after some research, he learned that Parkinson’s patients also have a similar problem, and had an FDA approved drug to treat related symptoms including tremors: carbidopa-levodopa. He thought, why not try it for CS?

Mark proposed the idea to Dr. Peter Kang, a pediatric neuromuscular neurologist, who had never met a CS patient before Sarah. Together, Dr. Kang - who is among the top CS specialists in the US today - and Dr. Neilan agreed it was an interesting idea, and initiated their first case report study on CS based on this premise: testing the impact of the Parkinson’s drug on three children with CS, including Sarah. Another child who was tested, Amy, the inspiration for the UK-based CS patient advocacy and support group Amy and Friends, had also been diagnosed by Dr. Ed Neilan after her family’s long struggle getting answers.

“They published the study, and it was successful. To this day, no drug has helped Sarah more than carbidopa-levodopa, and we’ve tried everything. It had an immediate effect on her,” said Mark.

Many CS families continue to use the Parkinson’s medication for their children, and with great success, thanks to Mark’s early innovative efforts.

Mark said they’ve had a long journey using supplements, and medications that have had little effect, trying everything they could, even injecting their daughter daily with growth hormone treatments when she was younger (now disproven to work in CS).

“I hated it,” he said. “I hated doing that to her. It’s also hard to figure out what medications help, if any.”

Expanding the Ecosystem

Even though not all of the research initiatives delivered the intended results, Mark — while also managing a demanding full-time career and being a father and husband — believed it was critical to bring researchers and families together. In 2010, Mark convened the first gathering of CS researchers from around the world including Dr. Vincent Laugel from France, Rebecca Laposa, Ph.D from Canada, as well as researchers from Italy, the UK, and around the US. “It was all the CS researchers we commonly know today.”

A number of CS families also attended, creating an excellent opportunity for parents to learn the science. The researchers presented seminars, for a day and a half, on all aspects of CS and what they understood about the disease.

He insisted that one fundamental aspect was getting researchers to share unpublished data. “I learned that sharing unpublished data is challenging in research. Scientists want credit, and they don’t want to share things early, so we tried to create a space where people could feel comfortable sharing discoveries as they happened. If they discovered something, we wanted to know now.”

The Secret Weapon - Sarah

Mark brought Sarah everywhere he could to meet researchers.

The scientists were always taken with Sarah because she was such a happy, jovial child, and could articulate that to them. In this way, Sarah became the spokesperson for children in the CS community, many of whom are non-verbal. Combining the human element - a face - to the research helped propel things forward.

What did Sarah tell researchers about what life was like for her? According to Mark, she’d stress that she was a very happy kid, that life was great. Some days were hard for her but it was ok. She would talk about how much she loved people, and that she was very positive despite her issues. Sarah was also very in tune with people’s emotions, in a way that Mark thought exceeded the capabilities of abled people. If someone was sad, Sarah would pick that up right away.

Mark recalls teaming up with scientists at UMass Chan Medical School, including Dr. Terry Flotte, a gene therapy pioneer, introduced to him by PJ Brooks, current Deputy Director of the Division of Rare Diseases Research Innovation at the NIH. They had begun work developing the first CSA/XPA mouse models for an early design gene therapy program.

Mark and Sarah flew to Maryland to visit NIH labs, and actually had an opportunity to “meet” the mice.

“To this day, Sarah still complains about the mouse that bit her during that trip,” Mark shares, smiling.

Mark says he is grateful for the researchers they came across. “We’ve worked with some great scientists. I can’t say enough kind things about PJ Brooks and the NIH in particular,” Mark reflects. “PJ has always been so responsive and willing to help even if it wasn’t a part of his job responsibilities.”

Mark and Sarah also met and worked with the late James Mitchell, Ph.D., of Harvard University, who developed and published the first CSA/XPA mouse model — later used in research studies funded by Riaan Research Initiative. The Mitchell lab’s work was instrumental in laying the groundwork for advancing gene therapy for CS.

"It wasn’t easy juggling it all. I didn’t always have the time to manage the research studies, and programs. The science also wasn’t there yet. Fifteen years ago, we didn’t have the ability to do anything remotely close to what’s happening now. Part of the issue is that basic research moves slower, sometimes with unclear goals, and it’s translational research that we care about. That’s why it’s critical to bring basic researchers and translational scientists together every few years: it’s a catalyst for driving research forward.”

Mark’s foundational work, especially with Dr. Flotte at UMass Chan Medical School, enabled Riaan Research Initiative to step into a well-mapped landscape and begin advancing gene therapy development for CS almost immediately, after our formation in 2021.

Current Challenges: Aging, Loss, and Resilience

As Sarah gets older, one of the most difficult aspects for the Pelsons has been watching her gradually lose some of her abilities and independence — including with everyday activities like bathing and other forms of self-care. The family would adjust to a certain routine or level of function, only to have things shift again as the disease progressed. At one point, Mark shared, Sarah had even briefly lived on her own — something that now feels almost unimaginable.

“It wasn’t even that long ago. Now I can’t even imagine it. We’ve added a small fridge in her room to give her a sense of independence - kind of like a college dorm room - and that independence means so much to her. Our kids want to be like other kids.”

Mark says Sarah losing her eyesight has had the most impact on her quality of life. Mark wishes researchers could focus on this particular area as vision/hearing losses present tremendous challenges.

He reflects that being Sarah’s dad has made him more aware of the experiences of children with disabilities, which led him and his wife to focus on creating educational opportunities - special schools - that truly accommodate their needs.

It’s been a journey and Mark wouldn’t change a thing.

“Sarah is an absolute joy. My wife says don't wish away what you have, she's right."

Mark said that Sarah has also helped their younger daughter become a better person, that she’s had a similar impact on many people.

A Father’s Message to Fellow Families

Mark has advice for families interested in pursuing CS research, including the team at RRI where he serves as an advisor:

“The world of science is progressing at a rapid rate. When your child is first diagnosed, you may think there’s nothing to do but there’s things to do. One person can make a difference, a group of people can start major things, and truly move the dial.”

Looking back, Mark is most proud of getting more researchers interested in CS and his work with carbidopa-levodopa. He says that the scientists he helped recruit often came for the fascinating premature aging aspect of CS and stayed for the joyful nature of the children.

Finally, he cautions, being an advocate for your child includes challenging doctors and researchers along the way. He notes that even though the scientists are all bright and highly educated, parents have insights they'll never have.

***

A huge thanks to Mark Pelson for sharing his story with Riaan Research Initiative, and for his family’s tremendous contributions to advancing CS research and paving the way for the work we do today. We stand on their shoulders and are deeply grateful — to them and to fellow CS families, including The Luke O’Brien Foundation, who joined their cause.

***

We need you! Help us continue on this path of innovative research and donate here. Our children deserve treatments, and together we can make that a reality. Stay tuned for our exciting August launch of #Ride4Riaan 2025! Where will cyclist Winty Singh ride this year?!

(July 2, 2025) - Have you seen the movie Last Holiday starring Queen Latifah? In it, her character learns she has a terminal rare cancer diagnosis, with weeks left to live, and realizing she hasn’t lived very much in her life, maxes out her credit cards and empties her savings to go on a no-expenses spared trip to the Czech Republic, staying in the fanciest hotel and eating the most heavenly food. Everyone thinks she’s royalty and is just fascinated by her. Magical things happen, and the plot heads toward an unrealistic Hollywood end, but still, what a movie.

Sometimes I feel like that’s our life, especially in the summer when there’s more time, and it’s marvelous. Yesterday, on a random Tuesday night, we drove 45 minutes away to dine at an outdoor restaurant on the Hudson River, enjoying an evening rainstorm as we ate, the cool river breeze and change of scenery lifting all of our spirits. The day before, we took Riaan to the beach (although NYC beaches leave something to be desired). The day before that, we rode a ferry and enjoyed the NYC skyline at sunset, with the spray from the boat’s wake rejuvenating our faces and bringing the biggest smile to Riaan’s lovely face.

We began the weekend by visiting exquisite Persian-inspired botanical gardens with lush waterfalls and gorgeous flora that made us all feel like royalty. Riaan made a wish at the wishing well. Can you guess what he wished for?

Out of all these experiences, I’d say Riaan enjoyed the botanical gardens the most. He was simply giddy with excitement from beginning to end, the smile never leaving his face. He did his signature pat of his dad’s back indicating his joy.

“Good choice bringing me here, mom and dad. I approve,” he seemed to say.

He enjoyed the restaurant the least, and I think it’s because he’s not really into sitting still, especially on an outing. The boy is always on the move, rolling at home, sitting up, trying to walk. We’re used to that now though, so one of us walks around with him, or we hold him while he plays with my phone (his absolute obsession), and try to eat quickly (and often take our food to go). We’d rather he be with us and we rush through the meal, getting our check at the same time as our plates, than he not be with us. Even for a few good seconds, it’s always worth it, as long as his little brother gets his food. We love Riaan. He enriches our lives, his presence is always pure and joyous, no matter what.

These days, I live in a state of existence, riding this wave of euphoria, where every moment is rich with profound meaning and joy. And despite the sadness of what led us here, it’s full of ecstasy. In fact, there’s so much joy sometimes it doesn’t even feel real.

I think I finally truly understand the difference between transient pleasure and genuine happiness, and it took my beautiful Riaan to get me here. Here’s a good way to understand: it’s a cold day, and you’re freezing. You come home and take a sizzling hot shower. It’s pleasurable, it’s absolute bliss. But if you stayed in that shower for 24 hours, it would become torturous. The pleasure would fade rather quickly. Happiness on the other hand is a state of being that is not as impacted by external circumstances and the changing winds of the world. It’s a combined recognition of our mortality, our privileges, an acceptance of our grief and pain, perhaps even a connection to something much greater than us if you believe, and the ability to drink in the love and joy that always rises in the present moment.

This is how Riaan lives: everything may not always be nonstop pleasurable (especially when GI symptoms strike) but he sure is happy, and in that happiness, he (and all of the other beautiful children) are far more enlightened than the rest of us.

Here’s the thing: it’s perspective, for sure, but it’s also something deeper, more tangible. I’m not immune to problems and personality flaws that could overwhelm the strongest person, stirring feelings of loneliness, misery, and anger: we have plenty, trust me, aside from Riaan’s diagnosis. Life is hard for everyone. Nothing is happening in our daily lives outside of our summer Queen Latifah Last Holiday time that make it seem that wonderful to an outside viewer.

To an outsider, my days probably look the same: wake up, care for and feed the boys, therapies, appointments, emails and meetings for Riaan Research Initiative, naps, cooking, cleaning, outings, and baths. Then Richie gets home, and it’s dinner, maybe a bigger outing, bedtime. Except these long summer days where the spirit of Queen Latifah’s character inspires us to do and live more.

Still, even the ordinary days are ripe with magic that I can’t fully explain. One Sunday morning, I held Riaan, his little arms wrapped tightly around my neck, and we danced and danced, swaying to the music gently filling our kitchen. Together, we soared to Such Great Heights by the Postal Service, as I scrubbed the stove and wiped the counters. A soft breeze entered the room, and our beating hearts - I could feel his strong pulse against mine - lifted simultaneously toward enlightenment, our spirits intertwined, a mother and her child, to accept the sweet elixir of love that filled the moment. The experience could have been delivered directly from the divine.

I’ve traveled the world to find this feeling, from the enigmatic deserts of Namibia to the tango-fueled coffee rich thrill of Buenos Aires, and to finally have it here in an ordinary NYC kitchen, holding the most precious human being I’ve ever come to know is not something I could have imagined before I became a mother. That feeling of euphoria that simply cannot be defined. An ecstasy that does not seem possible in this dark and violent world we live in.

I can see the positive impact of this change: suddenly, slowly, I’m interested in connecting with (some) people again, building bonds, seeing the purity and love in everyone else’s eyes and hearts.

Even in this journey to get a gene therapy developed for Riaan and other children with Cockayne syndrome, I see all of our partners as family, from our beloved collaborators in academia to the tox study experts to the consultants to the manufacturer of the gene therapy. I’ve met some of the most brilliant, tender-hearted, and dedicated people in the known world - some who have experienced tragic child loss themselves and want to turn their pain into preventing others from suffering in that way - and I hold them all dear in my heart. Everyone has been so kind and loving, even amidst the struggles - this is not a journey without ups and downs - and it could be no other way. Have you heard that expression: “If you build it, they will come?” Well we’re building it, and the ones who come are the best people.

Riaan, and all of the beautiful children I’ve come to know, has mandated this loving tone and demanded more from me as a mother. He has taught me that in everything we do, we do it for the betterment of all people, not just our own.

Any love, any blessing we feel must be shared with the world, and must be infused into every aspect of our work. This love guides us on this path to a cure, and we remain fully committed to the important work ahead—bringing hope and a viable treatment for children and families diagnosed with Cockayne syndrome.

The wish, as always, is for you know what.

***

Behind the scenes, our team has been working tirelessly — countless meetings, late-night emails, and close collaborations — to keep our Cockayne syndrome gene therapy program on track, and aligned with FDA expectations. We've recently expanded our network of expert and regulatory partners, increasing costs, but remain deeply committed to advancing this groundbreaking treatment. But we can’t do it alone. The costs to treat children in clinical trials — including hospital stays, imaging/tests, medications, follow-up care, and travel — can easily exceed $300,000 per child. We still need to raise these critical funds. If you can, please donate today — every gift no matter the size helps bring us closer to hope.

Donate here, and stay tuned for the launch of this year’s #Ride4Riaan.

It’s not easy getting dads to open up but today we’re honored to share reflections from five incredible dads raising - or remembering - children diagnosed with Cockayne syndrome, a severe and fatal neurodegenerative genetic disorder that causes extensive developmental delays, vision and hearing loss, growth failure, and a significantly shortened lifespan. We asked each dad to reflect on how fatherhood has shaped them, what their children have taught them, and the moments that have left a lasting mark.

Rick and Ellie, age 3.

Bryon and Faith, forever age 4.

Nate and Danny, age 5.

John and Luca, age 3.

Richie and Riaan, age 5.

Before we dive into their heartfelt responses, we want to share a scientific milestone that brings renewed hope to our entire community.

The Mice Are Alright

Our brilliant and dedicated collaborators at UMass Chan Medical School, Rita Batista and Miguel Sena Esteves, posted a pre-print of their proof-of-concept work in mice with severe Cockayne syndrome earlier this week. The results are nothing short of thrilling. When we first launched Riaan Research Initiative in June 2021, we never could have imagined that the work we’ve started—with the generous support of our donors—would lead to a comprehensive scientific paper demonstrating the effectiveness of a novel gene therapy for CS. As our Scientific Advisory Board member and worldwide CS molecular expert Martijn Luijsterburg said of the pre-print, “This is a game-changer!”

Using AAV9 gene therapy, UMass scientists were able to extend the lifespan of mice models of CS from 22 days to 189, a whopping 8.5 fold increase that exceeds results seen in many other gene therapy programs involving diseases impacting the Central Nervous System. We’d shared news of their successful work in mice previously but this paper describes the science, and provides all of the nitty gritty details and experiments. While the treatment wasn’t a 100% cure, the results were extremely promising.

In short, the mice are alright, and the future of in-human clinical trials is closer than ever. As always, we hope to translate what we see in mice to children.

Read the pre-print here and check out our previous discussion on the significance of Cockayne syndrome mice on gene therapy development here. Now back to the dads!

Rick & Ellie

How does being a dad of a child with CS change the way you see the world, and your place in it?

Being Ellie’s dad has taught me the importance of patience. Every day I am presented with a situation that requires more patience and understanding than I anticipated. Ellie has taught me to focus on what is truly important, and largely ignore the rest.

What’s one moment with Ellie that’s forever etched in your memory?

Ellie’s first birthday, which ironically was also Father’s Day. We had a perfect day with brunch, play time, a long nap, ice cream, swimming in the pool, and watching golf at the end of the day. We’ll never top that Father’s Day.

What does Father’s Day stir up in you?

Excitement! By Father’s Day, summer is in full swing, which is Ellie’s best season. I look forward to it more than any other holiday, and get excited about spending a day with the kids.

What’s something Ellie has given you—emotionally or spiritually—that you carry forward in your life?

We are forced to live in the moment with Ellie, and I constantly think about gratitude. I am so lucky to be Ellie (and now Bennett’s) dad, to be married to my best friend, and to have as much fun as we do. There are hard days, but I try to cut through the sadness and grief to focus on how lucky we are.

Bryon & Faith

How did being a dad of a child with CS change the way you see the world, and your place in it?

Becoming a dad to a child with CS opened my eyes to the brokenness in the world - but even more, it revealed the beauty, strength, and resilience in our daughter, Faith. It affirmed my purpose as a trailblazer, an advocate, and a voice for those who are too often overlooked.’

What’s one moment with Faith that’s forever etched in your memory?

Honestly, the moment that replays in my mind the most is the day before she passed. I was recording her as she tried to get to me, her face lit up with the biggest smile. She was full of joy—right up to the very end.

What does Father’s Day stir up in you?

Father’s Day brings a mix of emotions—some felt one at a time, others all at once. But through it all, I’m grateful for the ability to feel, and deeply honored to be Faith’s dad, even though she’s now in heaven.

If someone who never knew Faith asked about her, what would you say?

Have you ever felt that flutter in your stomach when you really care about someone? That’s what it’s like meeting Faith—she has a way of making everything feel better. Strength in a small package and hope for the hopeless.

What’s something Faith gave you—emotionally or spiritually—that you carry forward in your life?

Faith gave me new life. She taught me to truly appreciate living, to be thankful in all things, and to let go of the self-centeredness that God never intended for me. Through her, I experienced unconditional love, saw the reality of God, and came to understand that every person—no matter how different—is made in the image and likeness of God.

Nate & Danny

How does being a dad of a child with CS change the way you see the world, and your place in it?

I did not think something like CS even existed. The world started to seem very unfair when we got the CS diagnosis. My place in the world now is to make Danny's life easy and give him as much love and care as possible. There have been many things that I realized I won't get to experience with Danny because of his diagnosis, but there’s also been a lot of little moments like Danny's laughs and happiness that make up for that.

What’s one moment with Danny that’s forever etched in your memory?

When we had to go to the hospital with Danny when he had RSV - I’ll never forget it. He was so weak and just so miserable. I felt like I might lose him to this illness. Luckily, he recovered after 4 days. His smile and laughter once he felt better was the most memorable thing about the situation. It felt so good to hear and see that.

What does Father’s Day stir up in you—joy, reflection, grief, pride, all of it?

I would say all of them. I live every day wondering how much time Danny and I have left together, but on Father's Day I try to forget this thought and concentrate on the moment. It is hard sometimes to put the thoughts aside. However, every smile, every laugh, every snuggle, and every time I see my little boy just breathing helps with avoiding these negative thoughts. I'm very glad to have such an amazing son like Danny and I would sacrifice my life to make his better. I find myself very lucky that we have a lot of amazing memories that I can look back on.

What’s something Danny has given you—emotionally or spiritually—that you carry forward in your life?

When Danny was just a few months old and nobody could give us an answer on what was going on with him, I had lost all faith and was in a very bad spot for quite some time. One morning when I woke up, I looked at Danny and he had this huge smile on his face. His eyes were still closed and he let out one of his happy sounds: this made me feel so good and from then on, I’ve used that moment to pick myself back up when the negative emotions overwhelm me. He has made me understand that small moments like this can make a huge impact on fighting depressing thoughts. I'm very happy that I have Danny and I cherish every second I get to spend with him.

I really hope that science and technology will soon be able to help CS kids like Danny live a "normal" and full life so that they don't have to suffer and that parents can breathe a bit more easy knowing that maybe their child will outlive them.

John & Luca

How does being a dad of a child with CS change the way you see the world, and your place in it?

Being a father to a child with CS has made me see the world more cautiously—but also with greater curiosity. Luca inspires me to experience more in life with both him and Liam. Because of them, I feel incredibly grateful just to witness my sons living and growing.

What’s one moment with Luca that’s forever etched in your memory?

It’s hard to choose just one moment—every day with Luca is a blessing. But if I had to pick, it would be hearing him talk. That’s something I’ll never take for granted.

What does Father’s Day stir up in you—joy, reflection, grief, pride, all of it?

Father’s Day makes me feel deeply thankful—thankful that I get to be Liam and Luca’s dad.

What’s something Luca has given you—emotionally or spiritually—that you carry forward in your life?

Luca has given me a new kind of strength - both physical and, even more so, spiritual. He’s made me a better man, for him, for Liam, and for the world.

Richie & Riaan

How does being a dad of a child with CS change the way you see the world, and your place in it?

It puts life under a deeper microscope, making you see things you didn’t notice before. For instance, strength isn’t just physical, it’s also what a child like Riaan has to go through everyday. Now that’s strength. Riaan has also driven gene therapy research into Cockayne syndrome in ways I never thought possible. I’m so, so proud of him, and see how much tremendous change even one child, with so many challenges, is able to make. My place in this world is to make sure Riaan and his little brother Jivan aka Lu, our nickname for him, are taken care of. So in that regard, Riaan having CS didn't change things because my place would have been to make sure my boys are taken care of either way.

What’s one moment with Riaan that’s forever etched in your memory?

Even though there are many memories that I have with Riaan that are forever etched in my mind, there is one moment in particular that will always have a place in my heart. We went to get a second opinion on Riaan’s vision after he wasn't showing much improvement at that point following his cataract removal surgeries (even though the doctor did tell us that it would take time for everything to heal). It was a rainy day in Manhattan, and Covid protocols were in place, so only one parent was allowed in with Riaan. I stayed behind, nervous, while Jo and Riaan went in. The doctor at Mt. Sinai did tests and said that the ophthalmologist who had performed Riaan’s eye surgeries did an amazing job and she thought he would one day see beautifully. I was relieved. Little did I know that as soon we arrived home, Riaan would begin smiling at me - in response to my smile - and following me with his eyes for the first time in his life. It was something that I will never forget. It’s like his eyes finally woke up, and his vision was magically restored. The joy of knowing he was beginning to see was incontrovertible.

What does Father’s Day stir up in you—joy, reflection, grief, pride, all of it?

Only pride and joy. Regardless of Riaan's condition, I would never say that Father’s Day would be anything less than that. I have Riaan and Lu. They give me purpose. Something that you might think you have already, but until you have children, you don't. You live for them. I see Riaan still progressing and I get a sense of pride and joy seeing him continue to improve.

What’s something Riaan has given you—emotionally or spiritually—that you carry forward in your life?

Riaan's strength can be quite contagious. I see what this boy goes through on a daily basis and he's always smiling. I'm not the most positive person, but I do see Riaan's strength as a reason to be a more positive person. Riaan gives me everything that I could ever ask for and even more than that. Riaan has taught me so much over time and I will continue to learn from him every day for the rest of my life. I only hope, with everything that I have, that he’s here, in person, to teach me for many more years. I have a lot to still learn from you, my sweet Riaan!

***

To Rick, Bryon, Nate, John, and Richie — thank you for opening your hearts. Your honesty, strength, and love remind us what fatherhood looks like at its most courageous. To Bryon, we extend our deepest love and condolences, holding your beautiful daughter Faith close in our hearts alongside you and your family, always.

To every dad navigating rare disease, grief, uncertainty, or simply the quiet, daily work of showing up — we see and celebrate you.

This Father's Day, please consider honoring these families with a gift to support our mission. The progress we’ve made in gene therapy is real — but we need your help to keep going. Our children deserve every chance at life. Donate here.

We reached out to ten mothers of children diagnosed with Cockayne syndrome, across different age groups and levels of severity. Cockayne syndrome is a rare neurodegenerative genetic disorder that leads to premature aging, growth failure, developmental delays, vision/hearing loss, and a significantly shortened lifespan.

We asked these moms a range of questions about their experiences with motherhood. What follows are their candid, thoughtful, and deeply moving responses. Some of the moms are bereaved, and we are especially grateful for their willingness to share a piece of their hearts on such a difficult and emotional day.

• Question 1: Advice for Newly Diagnosed Moms

• Question 2: What Helps You Through Stress

• Question 3: Favorite Recent Memory with Your Child

• Question 4: Channeling Motherly Instinct After Child Loss

• Question 5: The Lasting Impact of Grief

1.) Let's share some advice for moms of children who are newly diagnosed with Cockayne syndrome. Looking back, what's one thing you wish you had worried about less when it comes to your child?

Lena

Don’t be afraid. Enjoy the time you have, and make it the most special time you can. Focus on what’s important: being warm, safe, well-fed, giving love and feeling loved. Everything else isn’t as important. Enjoy every moment and be happy and thankful even if that moment just feels “okay.” And if things go bad, believe that there will be better moments.

I think all the worries are just part of it, and there isn’t one thing I wish I’d worried less about. I just wish there hadn’t been so many worries.

Katherine

I wish I didn’t waste time and energy by worrying. Just try to enjoy each day, worrying does not change outcomes.

April

Looking back to almost two years ago when we got Luca’s diagnosis, my world had gone dark. My one piece of advice to newly diagnosed moms would be to reach out to someone and don’t hold the grief in like I almost did. Initially, I felt like I was a bother because of my sadness while everyone else’s life carried on normally. I felt stuck in the darkest time of my life.

I am forever thankful I found a CS Facebook group and Riaan Research Initiative which all welcomed me with open arms on this journey, answered my many questions, and allowed me to share my grief with others.

The unknown is scary when you have a child with Cockayne syndrome. I wish I worried a lot less about this “timeline” of life expectancy because the truth is we don’t know and can only hope for many more years and memories.

Stephanie

Looking back, I wish I would have worried less about doctors’ expectations when they didn’t really understand the growth of a child with Cockayne syndrome.

Nicole

I wish I had worried less about achievement of milestones and skills. We received our genetic diagnosis at 6 years of age. Until that point, therapists and doctors were concerned with helping Toby achieve skills. I found it so heartbreaking that no matter how hard I tried, I couldn't “make” Toby achieve these things. At the time, I felt as if I was failing. But during these years we didn't know Toby had Cockayne syndrome and we were assured by the medical profession that he'd be fine.

This deficit model of therapy and healthcare is not productive for our children. We need to celebrate what they CAN do and support them to achieve their potential without a timeline or comparison to typically developing children.

Jo

I’m going to be difficult here and say that the worries probably propelled me into action, into a purpose with Riaan Research Initiative. That being said, I wish I worried less about the track everyone thought Riaan was supposed to follow even as a severely disabled child: attending school regularly, engaging in an infinite number of therapies, all of the structure and appointments. I was such a perfectionist, and I didn’t find liberation and relief until I stopped worrying about what he was supposed to do, and instead just made decisions from the heart. If it felt right, I did it. If it felt wrong, I didn’t. I wish we would also stop comparing disabled children to other disabled children. When Riaan was diagnosed, a fellow CS mom told me to just love and hug him as much as possible. Amazing advice: loving him is the source of my happiness. It’s important to also recognize how fortunate we are - despite the challenges and fears that consume us with this diagnosis, we are blessed with some of the most loving and joyful children on this planet.

Tiana

I spent a lot of energy worrying if I was doing enough. Looking back, I can see that my love and simply being there for Charlie was what he needed most. I would also have trusted Charlie's ability to find his own way of doing things. He is stronger, braver, and more resilient than I could have imagined.

Christina

When Ellie was first diagnosed, I was constantly worrying about her food intake, her weight gain, and I was always pushing foods even when Ellie clearly was not interested. Of course I still worry about her nutrition daily but I try my hardest not to worry as much if she is having a bad feeding day or when she doesn’t finish a meal. I don’t let it ruin our day and now understand that these days are going to happen.

Katrina

One thing I’ve learned is that every single day is a gift—live it to the fullest. When you're newly navigating a diagnosis, it can feel overwhelming, but you're not alone. One piece of advice I always share is to get connected with your local charities and nonprofit organizations. These groups offer incredible support and experiences that can bring so much light into your family’s life. We’ve been truly blessed to be involved with organizations like AZ Kidz Experience, which raises funds for Phoenix Children’s Hospital through exciting off-road events. We’re also a HopeKids family, and they offer a full calendar of fun events that have helped us make unforgettable family memories. Community truly makes a difference.

Danielle

As a mother, we will always worry about our child in one way or other. However, the advice I can give mothers of newly diagnosed children is to continue to advocate for them; you are their best advocate and do not stop until you get results. Your child matters no matter the diagnosis.

2. ) What helps you get through the stress of the day? What works well?

Nicole

I wish I knew! I live with the stress and use it to drive me in my advocacy efforts for better support, care, and services to help alleviate the pressure placed on rare disease families.

We engage support workers who assist Toby in the home in the mornings and after school, and a few hours each Saturday. This helps me with our daily routine and allows me to spend time with my other two children.

Christina

Every day has its stressful moments but taking in all of Ellie’s laughter and joy makes the stress go away. Focusing on the now is something I try to do every day especially during the harder times. It also really helps to take Ellie out of the house daily whether to go on a walk, to the store, an appointment or even for a car ride - that helps relieve stress and it also breaks up the day.

April

When my grief feels heavy and stressful, I enjoy diving deep into a book to live in a different world, even if just for a moment.

Katrina

For me, it’s about perspective. I try not to let the little things get to me and constantly remind myself that things could always be worse. I focus on the positive and what truly matters. Spilled milk wipes up in a second, and broken glass sweeps up just as quickly. Stress loses its power when we remember what’s really important—love, laughter, and being present with our kids.

Stephanie

For me, it’s working out or going for a walk with a friend.

Katherine

It's not always easy to do, but if I am having a stressful day, I do try to step away and remind myself that none of this is Sarah’s fault and my frustrations pale in comparison to what she has to endure.

Tiana

I've learned to give myself permission to take breaks. I like to go on short walks, crochet, bake, or think of something to be grateful for. Those small moments of care for myself have made me stronger for Charlie.

Jo

Honestly, it’s the other CS moms I’ve gotten to know and love. They’re sounding boards, and good friends. To know I can contact them with the completely trivial to the more serious, at any moment of the day and night, is the (often comic) relief that I need to make it through the stress of the day. It’s the “Riaan won’t eat!” to the “Why can’t I stop eating sushi?” messages that carry me through, and the comfort that we can fluctuate from being typical chatty soccer mom types to the more serious mothers of children with a very scary rare disease, and all aspects of this identity are welcome.

3.) Describe a recent favorite memory with your child.

Danielle

One of my favorite memories with Faith was to be able to witness her hearing for the first time with her new hearing aids. It brought tears of joy and happiness as we could see the excitement on Faith’s face, her responses indicating she could hear us, and her laughter which just lit up the room. In this moment, we could visually see she could hear and communicate in her own way and that was such a blessing for our family to witness.

Katrina

There have been so many beautiful moments this past year, but one that stands out in my heart is the day Braden flew an airplane. Thanks to Above & Beyond, Braden got the incredible opportunity to be a pilot. He invited me and his grandpa to fly with him, and he gave us a wild ride—soaring side to side, up and down, fully in control. What made this so powerful was that just a year earlier, Braden had experienced vision loss. But that didn’t stop him. Watching him fly that plane, so confident and fearless, reminded me of his strength and resilience. Despite the challenges of Cockayne syndrome, Braden inspires us every day to believe that nothing is impossible.

Tiana

During Charlie's fourth birthday party, he got a surprise visit from his favorite superhero, Spider Man. He was so happy and it was wonderful to see.

Nicole

We've had some incredible experiences the past year including a family holiday courtesy of the Make-A-Wish Foundation and attending the Amy and Friends Conference in the UK, but my favorite memories are made each night when I put Toby to bed.

We cuddle and squeeze so tight and Toby grins from ear to ear. I pretend to gobble up his squishy cheeks and Toby giggles with joy.

As I exit the room, Toby sits up and blows me kiss after kiss before throwing both arms out wide, closing his eyes, and pursing his lips. I run back into the room and scoop him into my arms and cover his cheeks in kisses.

This is our nightly routine, as dictated by Toby. I spend time during these moments committing it to memory. The feel of his cheeks and hair, the pressure of his arms around me, the sound of his giggles, and his joyous and adorable face so full of life and love.

Christina

Watching Ellie become a big sister in March has been the best memory. Even though she is still skeptical of her brother at times, the smile on her face when she looks at him and grabs his hand is the best thing to see. So far she has only tried throwing one toy at him!

Stephanie

I have 2. We took Danny to Disneyland for his 5th birthday and seeing the look on his face when he saw all the lights was priceless. The second was getting his sensory room from Make-a-Wish Foundation. It’s decked out with beautiful lights which Danny loves.

Lena

Lately, I’ve been really missing a routine I had with Kian. Every evening, we’d snuggle on the couch, and I’d sing songs for him. And most of the time, he’d get so involved. He loved songs, especially ones with repetition or ones that had claps or pauses. He loved to make noises himself. He’d grab my hand and raise it up and down, clapping along with me, and if I stopped, he’d try to keep going. One of the songs was “If You’re Happy and You Know It.” I made up a whole new version for him because he couldn’t clap. I sang something like, “Say hmmm” and paused, and he actually made the sound. Then I’d continue singing. In those moments, it felt like time stood still—nothing from the day mattered anymore, nothing from the future was important. It was just the two of us, singing, clapping, making sounds, and being in that moment.

April

My favorite memory I think about quite often is the four of us getting on a train. Luca is absolutely obsessed with them. We headed three hours to the town that John and I fell in love in: Ventura, CA. We regularly went there together before having kids. To see the happiness on Luca’s face while looking out the train window is always embedded in my brain. All his dad and I want out of Luca’s life is to make sure that he is always happy and feels so incredibly loved. We spent two days in Ventura, with endless hours of swimming at the pool, and building sandcastles at the beach. To see and feel that joy and happiness all over Luca’s face makes it mean that much more to me and is a memory that will stay with me forever.

Katherine

Sarah has been fortunate that for many years she was able to travel and she has been all over the globe, but somehow never had been to Paris. For her 31st birthday in October, our whole family celebrated in Paris. She wanted to see 3 things - the Mona Lisa, the Eiffel Tower and Notre Dame. Check, check, check! When our tour guide asked our group what other famous structure the architect Gustave Eiffel designed, her hand shot up and she answered, “The Statue of Liberty!"

Jo

Last year, we traveled far and wide with Riaan, from deserts to mountains to the sea. All of these experiences gave birth to precious memories. But my favorite recent moment was whenever Riaan, Jivan (his little brother), and I play Riaan’s favorite interactive game: balloon volleyball. The other day, we were away, and in the hotel room, we just went back and forth, hitting a balloon between the three of us, the sounds of our laughter surely heard around the world. The boys then fell on top of me on the bed, one on each side, their little heads nestled into my armpits, and I thought: I’ll never be this happy again. These are the happiest days of my life.

4.) There is a famous quote that when a child is born, a mother is also born. What do you do with that instinct to mother, that deeply-ingrained desire to caregive and tend to a child, when your child has passed? How do you channel that energy, that part of you, into your new reality?

Lena, whose son Kian passed away on December 31, 2023

I think I’m much more patient with others because of my experience being a mother. I’m not sure if I channel “motherly energy”—I just work a lot, often more than I get paid for. I also like to play with the six-year-old son of my neighbor. When we play, it’s a mix of me missing Kian, who was my only child, and imagining what it would be like if he were standing there with me. But at the same time, he’s so different from Kian, so it doesn’t bother me too much. He’s like the hypothetical child I never had. I care about him a lot, think a lot about his development, but I can also distance myself and just let him and his mom be, getting involved to the extent that is comfortable for them.

There’s an Italian mother who wrote a book about her life with her son who has Cockayne syndrome, called “Frollino, il mio bambino magico” ("Frollino, My Magical Baby"). That title really resonates with me so much —Kian wasn’t a normal child, Kian was a magical child.

Read more about Kian here.

Danielle, whose daughter Faith passed away on February 22, 2025

The instinct to mother will never go away; I continue to support others in my family including my eldest daughter. I believe this is the time when we lean on each other the most; to be able to go through these difficult moments and process them together as a family unit. I would say that you have to allow yourself to feel all the emotions. Seek support groups, individual therapy sessions, therapists or you can even speak to the ones you feel you can trust the most to talk through your experiences.

For me, a way to shift into this new reality has been to continue to advocate and spread awareness for my child; support other families that may be going through similar experiences, continue to share stories about Faith to keep her memory alive and her legacy to live on forever. Others may wish to create a memorial or a non-profit organization to continue their child’s story and give hope to others. Even though it may hurt (a lot), I believe we can find healing in this new process.

Read more about Faith here.

5.) How does the process of grief impact your memories of mothering your late child, and how you feel today?

Lena

Last year, in an article for Riaan Research Initiative, I wrote that losing Kian felt a bit like what I imagine withdrawal from an addictive drug must feel like. And in the past few weeks, this feeling, this “craving,” has increased in intensity again, usually in the evenings when I sit in my chair. Sometimes it gets so intense that it feels almost unbearable and I would do just about anything to get what my mind is craving: holding Kian in my arms.

I’ve written before that my memories of Kian are still so vivid, but I’m afraid of them fading. And that’s exactly what’s happening. They’re fading, and when I realize how much they’ve faded, I sometimes just want to stop—stop time, stop living, stop losing Kian bit by bit every day.

And I think Kian made me a better person. Sometimes it was hard for me to love myself, but he taught me how. Now that he’s gone, I feel like it’s becoming harder again to accept and love myself. I’m becoming more dissatisfied with myself and more uncertain. It was such a huge gift he gave me, and it’s still present in my memories, but in my day-to-day life, it’s slowly fading. And I don’t know what I can do about this. Except hope to hold onto my son’s beautiful gift to me, his mother, for as long as I possibly can.

***

It’s not just the gift of mothering we give to our children. It’s the tremendous love we receive in return, the kind of infinite love that always feels too good to be true, too powerful to be possible.

To all moms out there, we know mothering isn’t easy despite the different challenges we may face, from raising medically fragile children to typically developing ones. Happy Mother’s Day to all, and a special thank you to the moms of the Cockayne syndrome community for their contributions to this piece.

***

If this piece moved you, consider supporting the work of Riaan Research Initiative with a special Mother’s Day donation. Your generosity helps us continue our work for families affected by Cockayne syndrome. Donate here.

by Jo Kaur, Founder of Riaan Research Initiative

(March 11, 2025) - They say that writing is the deepest expression of the soul. Well, my soul is deeply aggrieved. A gaping wound that’s never healed. But it’s also humbled by the tragedy of life, and deeply grateful for the blessings and joys I do have.

It’s been four years since Riaan’s geneticist cut my heart open.

Cockayne syndrome.

I think about Edward Cockayne sometimes, the doctor who first discovered and wrote about the disease, and wonder again why anyone would want their name affiliated with a disease that kills children, that destroys whole entire universes. A perverse naming practice if you ask me.

As diagnosis day approaches, I’m fluctuating between fatigue and panic. Fatigue because my body is breaking down again: headaches, blurred vision, aches, crying while driving, crying while taking out the trash, and just full on being tired. I’m so tired, I could fall asleep anywhere. This happens every year, climaxing on the anniversary of diagnosis day on March 12th, and lasts until the painful month of March blissfully ends. The body just knows, and sometimes reacts before the mind.

I’m feeling panicked because the rare disease patient advocacy community is facing a significant challenge in funding which could directly impact all of our work. We are all scrambling to figure out what to do as the NIH announces funding caps to cover indirect costs of research and freezes on grants. We know that rare disease programs are often first on the chopping block. It’s as if we’re seeing the summit of Mt. Everest in the near distance only for the mountain to be blown up seconds before we approach.

No rare disease patient advocacy organization could raise enough money to compensate for cuts in government funding to research. The deterrence effect on the next generation of researchers cannot be understated either: who would want to pursue a PhD to research non-profitable diseases like Cockayne syndrome in this climate?

Panic also because Riaan is getting older, and I’m desperate for a treatment. A treatment now. How much faster can we push? How much faster can everything go? I know the team is moving with as much as dedication and urgency as possible. Still, I worry. There’s so much to worry about. We only have so much time. Everything is finite, and we are not as powerful as we think.

Does anyone feel my desperation? I know other parents in the rare disease community must. We shout into the night sky, terrified, and hoping. Hoping, and praying. Doing what we can, but is it enough?

I think of the words of Terry Pirovolakis, a super dad and inspiration to many of us parents, who was able to get a gene therapy developed for his son Michael in a whopping three years: “These are our children, and we have to save them.”

I took the kids to the playground the other day, feeling bad because they were so bored. The weather was slightly warmer, and I really had no excuse. Forcing down a cup of coffee, taking the twenty minutes to dress them in their winter clothes, we managed to walk to the street and get into the car.

At the park, I put Jivan in the swing, and Riaan cried for me to pick him up from his stroller. Holding him under his armpits, I helped him walk around the playground. He made it easy for a while - bearing weight and taking great steps - but then he crumbled. He’s been making tremendous progress in physical therapy recently, even standing straight and tall on his own, with no help from another person or adaptive device, for a few seconds at a time. Still, it’s hard for him.

Soon the empty playground began to fill with elderly nannies and young children. Everyone was full of energy, and all I wanted to do was sleep. I put Riaan back into the stroller, against his will, and tried to lure Jivan out of the swing with false promises of ice cream while he shouted “NOOOO, MOMMMY.” I locked eyes with one of the super nannies, who gave me a questioning look but then she saw Riaan complaining in his stroller and her eyes filled with sympathy. She’s decades older than me but with so much more energy for young kids. “I’m grieving and my son is cold,” I want to explain. “You don’t understand. Or maybe you do, I don’t know anything about your life.”

It’s been four years since Riaan’s diagnosis but it can still be difficult to see other healthy children running around the playground, full of life no matter the weather, and think about the heavy diagnosis and burden my child faces. How much work he puts in merely to stand for a few seconds a day, or even to eat a meal. How unfair it is that despite his love of life, he faces such a devastatingly short one. These thoughts are foremost in my mind especially as the Cockayne syndrome community has buried yet another child this past weekend, a beautiful and beloved four year-old who died after her feeding tube was dislodged at preschool.

The thought of losing Riaan, of our family’s universe one day ending, pains me greatly. These thoughts feel extremely out of place in this playground full of happy, playful children, deepening my isolation and disconnect.

Eyes tearing up - damn it, not again - my gaze shifted to the vibrant blue sky, and a curious new thought flashed across my mind: How and when will the actual universe end? I have to Google this.

Do you know?

If not, please allow me to indulge you for a moment, and take the scenic route to my ultimate point. But before I do that, let’s set the cosmic stage to give us all some perspective. If you think of how long the universe has existed as one calendar year, humanity appeared only a few seconds before midnight on December 31st. If you think of the entirety of the universe as encompassing all of the grains of sand in the Sahara Desert, then Earth is merely one grain. Or in my terms, humanity is a great wave that rises from the ocean, beautiful and vicious, before it sinks back into the endless sea of the universe.

The prevailing theory about how the universe ends is this: it is headed toward an infinite dark winter, a state of maximum entropy. We know that our world is rapidly expanding, propelled by a mysterious force called dark energy. But as it expands, the stars become more isolated from one another, and conditions for life less possible. Eventually, even protons will cease to exist, and black holes will evaporate. The temperature will reach near absolute zero. Scientists call this the heat death but it’s more akin to the Big Freeze.

However, and this is where it gets really good, even with a dead universe, so to speak, it’s still possible for “something to come (back?) together” and recreate conditions of life. With enough time, a dead universe could even conjure a hypothetical grand piano in the void, or restart the process of galaxies, and solar systems once again. So even in the end, infinite universes are still possible.

In simpler terms, and according to the brilliant cosmologist Kate Mack, “Every moment that’s ever happened in the history of the universe can happen again, an infinite number of times.”

This is just a theory. It’s also possible that the end is just the end, and we only get one shot.

The Big Freeze by the way, if it ever happens, is trillions of years away. For our planet though, we only have about half a billion to a billion years before no life is possible on Earth. Humanity likely has a lot less. Isn’t that sobering?

What are we to make of these mind-bending concepts especially vis a vis our own lifespans, and the extremely short ones our children have? Where does God, and the concept of an afterlife fit into this, especially when the universe inevitably ends? Suffering and disease? Those topics are never far from our minds, especially when you have a child with a fatal disease. Thoughts of a heaven full of beautiful children playing together brings comfort to so many. For others, they believe in the power of combined energy, and forces we do not yet understand. Various other traditions, including my own Sikh faith, invoke concepts of karma and reincarnation, each moment pregnant with value and meaning, the ultimate goal for us to escape the cycle of life and death and to merge with the divine.

And yet some believe there is nothing. That once it’s over, that’s it. End of line.

One such person is Stephen Hawking, who struggled with ALS, a neurodegenerative condition, which caused him to experience severe disability most of his life. Yet despite this or maybe because of it, he transformed the fields of cosmology and physics. He also beat the odds, living over 40 years with a disease that kills most people in 14 months post diagnosis. A staunch nonbeliever in heaven and the afterlife, he thought people should simply live a life where we “seek the greatest value of our action."

Value. How do we define what it is, and who has it?

Many of us, myself included, believe that everyone has great value, no matter who we are or our level of abilities. Our societies and governments are not structured this way, however. As universities and scientists face intense funding cuts, I think of future and/or current rare disease researchers who may pursue a different career because they understandably feel their chosen profession is undervalued and undermined in today’s climate. In the world of medicine and research, rare disease and patients with rare disease are the most overlooked, already facing a significant shortage of resources.

Is it because rare disease patients are considered to have less value in our society?

I think about what people, institutions, and businesses who believe such things might say: Well they’re dying with such severe diseases and there’s so few of them for each disease. Is it worth fighting tooth and nail to try and save them? Is that the best use of our resources?

To answer this question, I think again about our universe, and how it will one day end, and then potentially repeat itself an infinite number of times. I think about value, how we understand, and define it. I think about the courage and strength it takes for Riaan and other children with Cockayne syndrome to live, walk, and be in this world, every day.

Once in a bar in Santa Fe, I met a woman who was a clown. Inspired by Patch Adams, she traveled to hospitals full of sick children around the world to bring smiles to their faces. She loved her job, and was content with her life’s chosen work.

Her soul was at peace, I could see. She said the children did more for her than she could ever do for them. They gave her life tremendous value. They were so sick, fighting these horrible diseases, and yet they tried to smile and laugh with her, to humor her. It was humbling. They had more courage than she’d ever known.

Riaan may never get a PhD in cosmology or physics but he contributes more value to our world than anyone I’ve ever personally known. Riaan and all of his friends in the Cockayne syndrome community do: these children embody and spread the very essence of revolutionary, unconditional love, the most powerful force to exist among intelligent, sentient beings.

Thoughts drifting between the clown and the theories about the ends of the universe, I make my boldest proposition yet.

If children with rare diseases aren’t worth saving, none of us are.

Everything matters, or nothing does. Our kids matter.

An eternal winter of darkness, or a repeat of the magic of creation that flows through all of us? Comforted by the enigmatic possibilities, it is abundantly clear that the hardest, least resourced path to help the most vulnerable is one well worth pursuing.

Child patients with rare diseases represent universes we can save, destinies we can alter. So let’s do it. What better time than now, when the odds are against us? There’s a universe where we get it right, where we build the cures, and defeat the odds. Maybe that time and place is now.

Let’s build these treatments and work hard to pour our limited resources into them. To the researchers, clinicians, and institutions who fight for us, who stay in through the madness, who work overtime to protect the most vulnerable including children with rare diseases, thank you. To our donors who help conjure miracles in the void, you’re our greatest treasure. You have no idea how grateful we are for you.

As our universe continues to expand across the cosmos, heading toward the unknown, I continue to put my faith in the most precious manifestation of the divine that I have personally encountered: my Riaan.

Through him, the possibilities are endless.

***

We need you. Our costs have risen. Every dollar donated helps. Please make a tax-deductible donation today to Riaan Research Initiative here, and help us continue to fund the development of a potentially life-saving gene therapy for Cockayne syndrome.

On February 28, 2025, as the world recognizes Rare Disease Day and the challenges faced by children with rare diseases, I had the privilege of interviewing Faith’s mother, Danielle Johnson, and her sister, Makayla Johnson, over Zoom.

This is their story.

by Jo Kaur, Founder of Riaan Research Initiative

(February 28, 2025) - Faith Johnson weighed the most she’s ever had the week before she passed away: 25 lbs.

“She was stable, she was doing well,” said Danielle Johnson about her daughter Faith before the incident at school that led to her hospitalization and shocking death. Faith, four years-old, had been attending pre-school since she was three, and this year, she was going five days a week, on a half day schedule. Things were going well, according to the family. She enjoyed using her gait trainer in physical therapy, and was starting to learn how to use a communications board.

“We knew what she was trying to say to us about 90% of the time,” said Danielle, as Makayla, Faith’s sister, nodded along. Makayla noted that Faith said “No” a lot, that she could occasionally point to what she needed, and also said “Momma.”

“Momma” was Faith’s safe space. Faith was as close to her mother as a child could be, cuddling up in her mother’s arms every night as she fell asleep. Danielle, who has advocated passionately for her daughter since she was born, said Faith felt the most comfortable in her arms, and especially near her face.

When Faith first started school, Danielle had a hard time de-attaching from her. “I had a hard time trusting people with Faith so it was rocky in the beginning. I had to stay on top of the school about certain things,” she said, especially regarding Faith’s medical condition - Cockayne syndrome - and her disability accommodations. That’s been the story of Danielle and Faith: a mother constantly having to advocate for her child in a smaller town with less healthcare facilities for medically fragile children.

“Our local hospital didn’t even have supplies for her g-tube. That’s why we started taking her to UVA in Charlottesville, about two hours away. They offered pediatric specialties.”

She describes a hard pregnancy during the beginning of the COVID pandemic, marred by concerns about Faith’s growth in utero.

“When Faith was born, they didn’t even put her in the NICU. I was surprised because she was only 4 lbs, 10 oz,” said Danielle. “They told me she had really strong lungs.”

Immediately, Danielle noticed that Faith’s feet turned inward. At home, she began having problems drinking formula, often vomiting. She had a swallow study and an upper GI study, and was diagnosed with pneumonia, causing Danielle to have to hold her for three months to avoid aspiration from lying down. It was determined that Faith’s laryngeal cleft was the cause of her not being able to keep any formula down.

“I slept on our recliner chair over there,” she said, pointing across the living room. “For three months straight, I held Faith up the entire time.”

Faith also developed bilateral hearing loss, and needed hearing aids at age 1. This was, however, Makayla’s favorite memory of her sister. "When Faith first got her hearing aids, she was crying but as soon as she realized she could hear with them, she instantly made cooing noises, laughing and talking with us."

Danielle was worried about Faith and advocated for extensive genetic testing. At one years-old, following a whole exome sequencing test, Faith was diagnosed with Cockayne syndrome, and specifically mutations in gene ERCC6/CSB.

“The diagnosis surprised us. Given the fact that our older daughter Makayla was healthy, we were struggling to understand how it could have happened. The genetic counselor kept trying to describe the disease to us but it was too much at the time. We were just trying to process the news. We didn’t expect it,” said Danielle.

Over time, the family learned how to adapt to other medical challenges they faced with Faith. Faith had surgery to get a G-tube to help her with feeding and weight gain, followed by a GJ-tube once her weight had plateaued after a bout with the flu.

“We had a regimen and she was doing well,” said Danielle, noting that they had been prepared for Faith’s challenges, and had moved her toward stable health especially once they figured out how to manage her acid reflux and other GI issues, as well as the occasional seasonal viruses.

The family’s day-to-day was colored with love, laughter, and routine. “Faith did enjoy sleeping in,” Danielle said, laughing, but also liked to have set times for her baths, therapies, feeding, and bedtime. Faith’s favorite television show was “The Boss Baby.”

“Oh she loved that show! She would laugh so hard,” said Danielle. She also enjoyed playing with her blocks, light-up and musical toys. She loved lights, and water. She enjoyed being in her bath, and also the pool.

Danielle said on cool days, when it was not too hot and not too cold, and especially when there was a nice breeze, Faith enjoyed being outdoors on the family’s porch, listening to the birds.

Makalya fondly remembered a family trip to North Carolina, to the beach. They took Faith to the beach, but not for too long because of her photosensitivity. “She loved the water. She really enjoyed the beach,” Makayla said. Later, she said they went to Duck Donuts, which had recently opened up in that area, and laughing, talked about how Faith tried a donut. She said her sister always loved to try a little bit of food at new restaurants.

Makayla recalled a family friend - Raven - that Faith had a special bond with. “We didn’t know what it was but Faith really really loved her, and always wanted to hug her.” Faith expressed her love for Raven by pulling on her earrings, hugging and kissing her, and laughing nonstop with her.

“Faith is such a gigglebox. It’s so cute. She was also starting to warm up to strangers, and playing with other children.”

Was there anything that beloved Faith didn’t like? Danielle and Makayla laughed and said, “Well she did not like play doh! She didn't like soft textures. She liked the rough stuff.” Makayla added, “If you did something to her that she didn’t like, if you tickled her for instance, she'd laugh at first but then she'd get back at you, she’d start swinging her arm at you.” Smiling, they also recalled Faith’s contentious relationship with the family cat, and how she would try to pull her hair too.

Danielle said she doesn’t wish what happened to Faith on any parent. She describes being severely traumatized by last week’s events, from the incident at school and the hospital stay. Due to ongoing legal matters, we are not describing the details of what happened, beyond the fact that Faith’s GJ-tube became dislodged at school, causing the family to have to rush her to the hospital, where she passed away a few days later, on February 22, 2025.

At UVA Health University Hospital, Danielle said she remembers when Faith’s lips and nose started turning blue. She had begun to be worried a few days before and raised concerns when she observed Faith’s breathing to be heavy and knew that “something wasn’t right.” On the day she passed, Faith coded, and her heart stopped, but the doctors brought her back. However, she then coded again, and the doctors weren’t able to bring her back. They began doing chest compressions, and as blood filled Faith’s lungs, the family made the difficult decision to let her go. “We didn’t want to let her go, but we didn’t want her to suffer,” said Danielle, sobbing.

“Faith should not have passed away like this. She wasn't supposed to go this way. As a mom, I advocated to the 1000%. I know I’ve done enough but I still feel like I let her down..that guilt is there,” she said.

The family is working hard to advocate for their daughter and to find answers.

Meanwhile, they are dealing with the intense grief of losing their beloved four year-old. “I miss her. Every moment with her was the best memory of my life,” said Danielle, her eyes tearing up.

***

Our global community of families impacted by rare disease stands in solidarity with the Johnsons, and sends them our most heartfelt condolences.

Visitation and services for Faith will take place on March 8, 2025 in Winchester, Virginia. For more information and to send a message of support to the Johnson family, please visit here.

To read recent news stories about Faith, please visit here and here.

To sign the family’s petition for change and demand for answers, and to track updates on their fight for justice, please visit here.

“Yesterday is today; the past returns; the future has already happened.” - Octavio Paz

by Jo Kaur, Founder of Riaan Research Initiative

(February 27, 2025) - I recently watched a movie about a man on death row. He said that on the day he was sentenced to die for a crime he did not commit, time froze. That he knew he was going to die soon, although he did not know when exactly, and therefore his life could not go on like everyone else’s.

When time stops, what happens? Richie often says something that reminds me of that man on death row.

The day Riaan was diagnosed, that’s when time froze. Yes, things continue to happen in our lives, but mostly they are stuck on March 12, 2021. It’s as if we’re constantly waiting for the axe to fall, and running around in circles trying to flee from it.

It can be overwhelming to ponder. These thoughts often emerge with a ferocity, along with the buds on the trees, every year as we approach Riaan’s diagnosis day.

We had an opportunity to explore these concepts with some very kind and thoughtful folks from UMass Chan Medical School on a podcast called Rare Diseases, Real Stories. If you can, listen to the 24 minute episode on Riaan here (we encourage you to listen to all six, tearjerking episodes.) It is an honor to be featured alongside some of the most incredible families we have come to know.

The podcast is also available on Apple Podcasts, Spotify, and other streaming channels. We are grateful to Sarah Willey, Jennifer Berryman, and Bryan Goodchild for bringing Riaan’s story to life for Rare Disease Awareness Month.

Tomorrow, February 28, 2025, the international community celebrates Rare Disease Day, a day that holds different meaning for all, but what I like to think of as the day we remind the world that there’s many people, including children, with rare diseases, and they’re loved, important, deserve high quality medical care, accommodations, and treatments, to be treated with dignity and love, and their lives are MORE THAN YOU CAN IMAGINE (the theme for this year’s Rare Disease Day).

I recently re-connected with a very old friend. He was trying to digest the news that I was a mother while also learning that my son has Cockayne syndrome. I could feel his nerves, his fear of saying the wrong thing, which is an understandable and common reaction to our situation. “I can’t imagine,” he - a father himself - kept saying. “I just can’t imagine.”

Then he asked, “What’s it like? Are you lonely? Is it very lonely to be in this situation?”

I appreciated the question. I appreciate any attempt by anyone to remember we are human too, and to engage with us on that level. I carefully considered his question, and then this is what I said:

“You know, it’s hard and it’s definitely lonely. But life is hard and lonely for everyone. We’re all struggling, we all feel alone. Everyone does. It’s very hard, of course it is. It’s hard knowing that it’s life-limiting. It’s hard watching the disease transform his little body over the months and years; it’s hard how much he hates eating, and to witness his beautiful, chubby face thin out over time. But the joys are so much more than you can imagine or ever know. Our life is not unhappy. We are very happy. We spend most of the day giggling, and laughing, and trying to live a lifetime in 24 hours. We go out on adventures, we do spontaneous, spur of the moment things. We’ve traveled. The other day, we decided to get out of town for a few days, booked a house, and hit the road. When we got there, our car became stuck in the ice, driving up a winding private road to the home. As it slid down the hill, my stress levels climbing, I hear Riaan’s loud, intoxicating laugh. Just a second ago, he had been crying and complaining. He thinks the sliding is the funniest thing. As soon as I hear it, a calmness settles over me. You see Riaan has this tendency to laugh out loud whenever something stressful is happening and it always eases the tension. Soon we were all laughing, his brother’s tears of annoyance also turning into giggles, and we got up that hill. Next thing you know, we’re snuggling by the fireplace, looking out at the trees and snow in the backyard. The moment felt magical, and we’ve had so many of those. So the joy? It’s so much more than you can imagine.”

This Rare Disease Day, I urge you, dear friend, to learn and spread the story of a child or adult with a rare disease, and to remind everyone: having a rare disease doesn’t mean you can’t and don’t live a full and glorious life. We’re all human, trying to do our best to squeeze delight from our days.

But yes. It’s hard. And lonely.

***

25 Million Wishes

We are honored to be a part of a new and incredible effort by Rare Village Foundation to unite the power of the rare disease community, promote research and the development of treatments, and celebrate the 25 million children living with a rare disease in North America. Let’s make our voices heard this Rare Disease Day and beyond. Check out their site here, and submit information about your child if applicable!

Happy Rare Disease Day to all! Let’s make this year our most robust yet.

by Jo Kaur, Founder of Riaan Research Initiative

(January 13, 2025) - Every week day, two neighborhood moms take a walk. I see them outside the window as I sip a mug of coffee. Like clockwork, around 9:30 am, wearing yoga pants and pushing their infants in sleek strollers. I don’t always see them through the window though. Sometimes I’m driving by them, other times, I’m sitting outside with Riaan and Jivan and they stroll by, their ponytails swinging back and forth. They seem happy, and deep in conversation, no doubt enjoying each other’s company and the exercise. They always wave hello, as they pass. It’s become sort of a ritual.

Seeing them one day, I felt a wave of sadness wash over me. I remember when Riaan was a newborn, and Richie had gone back to work, I was home alone trying to learn how to take care of an infant who was struggling to drink milk. A friend who lived nearby also had a baby about a month after me, and would regularly invite me to go out with her on walks. I’d always decline.

She couldn’t understand I’m sure. We’d get together sometimes when we were pregnant, having epic pizza parties. For her, it was her second baby. For me, my first. There was so much I couldn’t tell her at the time. I felt that I couldn’t tell her or anyone else, and so I suffered in silence.

She described a baby that couldn’t stop devouring milk and was growing rapidly. Meanwhile, I would spend over an hour, frustrated, trying to get Riaan to drink just two ounces of pumped breastmilk, dealing with numerous spit ups and vomits. His pediatrician at the time - not an expert on rare diseases - had told us we needed to feed Riaan a certain amount of ounces per day, and we struggled mightily to meet that daily quota. Now I know that the amount he had Riaan drink is likely far more than what a child with Cockayne syndrome can handle.

I was worn out. On top of being a first-time mom, there were the feeding struggles and the constant worry over Riaan’s health and development. At that time, Riaan wasn’t making eye contact, and I didn’t think this was typical but the doctors kept telling me to “give it time.” I was confused, I didn’t know what was happening with my child. This was before Riaan was diagnosed with Cockayne syndrome, and even before he was diagnosed with cataracts (our first real sign that something very dangerous was afoot).

Aside from the daily feeding challenges, I was also anxious about his size. When Riaan was about six weeks-old, and the weather had turned slightly warmer, I managed to find the energy to baby-wear him using a wrap, and take him out for a walk. I was about halfway down the street before an elderly woman stopped me, her eyes wide.

“Wow. That is the smallest baby I’ve ever seen in my life.”

She looked at me accusingly or maybe it was perfectly innocent but that’s how I perceived it. I just smiled, and kept walking, unsure of what to say, tears filling my eyes. I knew Riaan was small. He had been born 5 lbs, 5 oz, and we were struggling to get him to drink milk and gain weight. I was super conscious about this, on top of all the post-labor hormones, and constantly being plagued with imposter mom syndrome. I aborted the walk, took him home, and cried. I felt overwhelmed and worried. I felt like a failure as a mom, and that I had no idea what I was doing (I didn’t).

I didn’t attempt a walk again using a baby wearer, not for a while. I stuck to strollers with a full cover.

Anyway, I didn’t tell my friend any of this. I think subconsciously I worried she’d look at Riaan, and instantly know something was wrong, and she would tell me. I also didn’t want to compare Riaan to her baby, a month younger, and already looking so much bigger than my son in pictures. At that time, I had a real, “If I can’t see it, it can’t hurt me” approach to life. I didn’t want to know. I lived in fear of doctor’s appointments. So I never accepted her invitation to walk, I didn’t talk to anyone about my anxieties about Riaan's health, and I suffered in silence until we were forced to confront the situation because of his cataracts diagnosis. Once we were told he needed emergency surgery, I realized that everything was out of my hands.

I called up my friend, sobbing, and told her everything.

***

When Riaan was diagnosed with Cockayne syndrome at 15 months, I no longer wanted to suffer in silence. I wanted to share, talk, and write. I process best through writing, and I want to share Riaan with the world as much as possible. He is too wonderful and majestic to keep to myself. After his diagnosis, we were no longer comparing him to typically developing children, and demanding he eat or drink, or do the same things as other children. We still push him, we still work hard to cultivate his skills and abilities, and to keep him as healthy as possible, but we are no longer beating ourselves up if he doesn’t eat or drink as much as we think he should in a given day. I suppose there is some small relief in that.

Still, despite this liberation, the pain being so intense it freed us to speak our hearts, it’s not always easy to share everything, particularly our worries about how others may interact with him or perceive him. Sometimes the worries seem silly but other times we are reminded why we have them.

Riaan is our treasure, our gem, the jewel of our universe. I’ve always been extremely protective of him. I’m deeply conscious of the cruelties in our world, and the things people say and do, some well-intentioned, others intentionally nefarious. I know that as much as it pains many of us, children are not always spared in our cutthroat society.

Yesterday, we had one of the best days I can remember together as a family.

We are currently enjoying some time in Florida. We spent the morning spotting manatees in a lagoon, the early afternoon at a beautiful botanical gardens where a group of monks exchanged the loveliest of greetings with both of the kids along a row of bamboo trees, followed by a long and cozy nap. In the evening, we drove to a restaurant on the water, where the palm trees were dancing in the breeze, and the moon and stars were bright above us. We rode a golf cart from the parking lot to the restaurant, which was an adventure for the boys who couldn’t stop giggling. There was a live band that played wonderful Caribbean-themed songs, and both Riaan and Jivan enjoyed being there, neither one complaining at all. We had fed Riaan before we left, knowing he wouldn’t eat at the restaurant. The live band kept gushing over how adorable Riaan was when Richie and him went closer to the stage to listen and dance.

The drinks flowing, the wind blowing, Richie and I looked at each other at one point during our outing and both said some version of: “Wow, this is actually fun! We’re having fun!”

We were having an absolute blast. The weather was a tad chilly but overall comfortable. Giddy, we went home, put the kids to bed, and passed out ourselves, a smile on our faces, pleasant dreams of beaches and palm trees awaiting us.

But I mention this night because there was also a nearby diner who kept staring at Riaan, and it made me uncomfortable. She didn’t smile and her expression did not give away her thoughts. Here we go again, I thought. Why does she keep staring at him? Why is she being a wrinkle in our otherwise perfect night?

Later, as she was leaving with her group, I found out why. She was worried he was cold. She said to us on our way out to sit at their table which was closer to the heater, or to move the heater closer to ours. We were touched by her kindness and concern.

I suppose I was a bit on edge because we had a horrific incident on the flight down. The flight itself was fine, the kids both did great. It was probably our best flight experience to date. However, as we were deplaning, Riaan touched the hair of the woman seated in front of us. She quickly moved to push his hand off, and some of her long blonde hair got caught in the seat. This angered her, and she began to scream that she’d “had enough of him” meaning Riaan. She yelled that she’d been “dealing with this the whole flight” and that she “couldn’t take it anymore.”

I was aghast, my blood turned to ice while simultaneously I felt flames shooting out of my eyes. Riaan may have complained here and there but overall, he had been great. And even if he cried the whole flight, who was this woman to yell at a disabled child?

My first reaction was to apologize. I apologized to this awful woman, and I said, “I’m sorry, he’s disabled. He didn’t mean to hurt you or cause you any trouble.” But the apology wasn’t enough for her, and she continued to make comments about how she’d had enough of him. Infuriated, I told her how dare she speak to my son like that. I could feel Richie’s anger stirring beside me. Another passenger looked at us, and her, and said: “She’s horrible. Don’t even think about her. I’m so sorry.” The woman fled off the plane.

When we got off, I was still shaking with fury. I’d never felt such rage and hurt before. I remember Riaan’s face: he had been smiling at her, his usual friendly self, and then the look of absolute confusion and also fear that came across his expression. He didn’t know how to process what was happening, why this strange woman was yelling at him, at us. It broke my heart.

I forced myself to calm down but as I relayed that story to fellow CS moms later, I kept saying over and over:

“It’s almost sacrilegious to talk to our kids like that, to any kid, but especially our kids. They’re so sweet and gentle. How could anyone be that cruel? How?”

Anyhow, I’d been on higher alert since that incident. I had to remind myself that the majority of our interactions with strangers have been incredibly positive. That most people are deeply moved by, and honored to know and meet Riaan. Still, negative interactions can stay with you especially when they involve your child. I simply cannot handle barbarism toward a child, to any child, and particularly a medically fragile and vulnerable one. I also won’t let these negative experiences overcome the positive ones, which are far more profound and wondrous.

It’s an ongoing lesson learning how to navigate this world while raising a child with a severe rare disease and disabilities. But one thing I definitely won’t do anymore is suffer in silence. It’s important to talk, to share our anxieties. I’ll accept that invitation from any kind soul to go on a walk, to talk about Riaan, any moment, of any day.

Even as I struggled with feeding Riaan before I knew of his diagnosis, I have always been acutely aware that taking care of him is an honor. As I once said to a friend, I’ll happily change Riaan’s diapers for the next 50 years if that means he gets to live that long. Whatever he needs, I’ll be there. I may have messed up a bit in those early days by focusing more on the frustrations of caregiving but I’ll do what it takes to ensure he gets the best and longest life, and I’ll keep trying even if I’m not always successful. I was given the most precious gift in the universe to be his mother, and it’s a blessing I do not take for granted, as flawed as I am.

Thank you for allowing us to share our precious Riaan with you, and for supporting the work to build treatments for Cockayne syndrome.

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Jumpstart 2025 with an act of kindness! Donate to Riaan Research Initiative here. Your donation will help us continue the development of a gene therapy for Cockayne syndrome.

by Jo Kaur and Richie Digeorge, Riaan’s Parents and Co-Founders of Riaan Research Initiative

(December 12, 2024) - A Happy Holidays to all! We hope everyone is enjoying a merry and festive time with their loved ones.

Today, we’d also like to wish a very Happy Birthday to our beloved son, Riaan.

Riaan was diagnosed with Cockayne syndrome (“CS”) on March 12, 2021. His resilience, strength, and infinite magic inspired us to launch Riaan Research Initiative just three months later, in June 2021, to accelerate the development of treatments for this terrible disease.

When Riaan was first diagnosed, we were given utterly terrible news. We were told his life expectancy is 5 to 7 years based on his type (Type 2, severe). While we now understand the disease to be more of a spectrum, with less clear timelines, we have been racing against the clock to fund the development of treatments, and to try and save his life and that of other impacted children.

We have lived in fear of Riaan turning five but we are instead choosing to view this birthday as a rare and miraculous opportunity, a chance that did not exist before. Riaan’s 5th year is the one where we hope that scientists and physicians will be able to administer the first gene therapy to a child diagnosed with Cockayne syndrome.

Gene Therapy Update

Our signature research project is propelling and funding the research to develop a gene therapy for Cockayne syndrome, specifically for CSA/ERCC8 mutations, at the University of Massachusetts Chan Medical School. This multi-million dollar undertaking is funded entirely by Riaan Research Initiative, and through the exceptional generosity of our donors. Scientists at UMass Chan have already proven that the gene therapy is effective and safe in mice suffering from severe Cockayne syndrome. Scientists and researchers are now in the process of proving that the gene therapy is safe in rats - a formal toxicology study - and simultaneously manufacturing a clinical grade drug that can be administered to children. We are hopeful that we will be able to apply for an Investigational New Drug (“IND”) application with the U.S. Food and Drug Administration (“FDA”) and dose the first child in 2025. To prepare for this, we are putting together a comprehensive team of experts and consultants, along with legal counsel, to strengthen our application, and oversee any regulatory hurdles we may face.

However, the work doesn’t stop there. The next phase of our project is to ensure that we can fully fund the first clinical trials, and to continue to be able to provide the gene therapy, once hopefully approved by the FDA for use in these trials, to as many impacted children as possible. The next phases are only possible through continued donations, and will require significant funding.

Drug Repurposing Update

Riaan Research Initiative also launched two major drug repurposing studies, one of which is still ongoing, costing in the hundreds of thousands of dollars. While neither study delivered the immediate results we desired: there were no drugs that could be repurposed right away - or prescribed straight from a pharmacy shelf to our children - the results still revealed that we could make notable impact in the pathways of a lethal disease, which was an exciting and promising scientific breakthrough.

Our first drug screen was with Rarebase (now known as Transcripta Bio) and was more limited in scope, cost, and the gene of focus (CSA/ERCC8 only). The screen positively identified a variety of drugs that could increase expression of CSA/ERCC8 genes in healthy neurons (glutamatergic neurons) without Cockayne syndrome, ranging from drugs usually prescribed for immunodeficiencies, mental health disorders, and even Vitamin B12. Follow up analysis demonstrated that it was unlikely the drugs would benefit patients with complete loss of function in their CSA/ERCC8 genes: in other words, if the CSA gene is mutated to the point that it does not generate any CSA protein, then no drug is likely going to increase expression of that CSA gene. However, there is a possibility that some benefit could be achieved in patients who have some, even minimal function, which is the case for a number of CS children.

While there is no clear genotype-phenotype relationship in CS, some researchers believe that increasing even a small bit of expression, if possible, in CSA or CSB (the other gene primarily mutated in children with CS), could improve symptoms, assuming that the drug is not toxic or unsafe for those with a DNA repair disorder. Due to a lack of funding and changes in budgeting priorities, however, we were unable to follow up with this hypothesis or explore whether alternate pathways exist that could bolster gene expression in other genes in the DNA repair pathway to compensate for a complete lack of CSA protein. Nonetheless, the information and lessons from this work were extrapolated to our bigger drug repurposing screen with Charles River Laboratories, and Leiden University Medical Center, and described below.

This comprehensive 5,685 compound drug screen from the SPECS repurposing library, the first of its kind ever done for Cockayne syndrome, positively identified dozens of drugs that could effectively inhibit ATF3, an early transcriptor gene which is potentially responsible for 5000 other genes, and is activated specifically in Cockayne Syndrome patients with CSA/ERCC8 or CSB/ERCC6 mutations. ATF3, when activated, is known to downregulate at least six genes that impact neuronal activity and cause microcephaly and sensory motor neuronal delays. Underexpression of these genes have been linked to phenotypes (symptoms) commonly seen in CS children.

The CSA and CSB proteins, when functioning appropriately, help degrade ATF3 but in CS patients, they cannot perform this task leaving ATF3 on so to speak. While there are drugs that inhibit ATF3, as identified by our drug screen, scientists at Leiden University Medical Center are still exploring whether they can be used safely in children as many of them are highly potent anti-cancer drugs or in Phase II/Phase III clinical trials making them less accessible. They are also determining whether additional testing must be done in animal models to calculate safe but effective dosing levels. This work is ongoing, and may require additional funding.

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We’ve learned through the foundation that developing treatments for a rare disease will always be arduous and continuous work, a perpetual mission in progress. We’ve purchased the land, we’ve established the foundation, but we still need to build the house, design the backyard, furnish it, and fund its residents for years to come. The analogy becomes murky after a bit but the point hopefully survives.

Whenever we describe the non-profit to relevant partners - the “elevator pitch” - we always start by saying: “We were borne of necessity, a volunteer-driven initiative of desperate parents trying to do what they can to build hope for their child and community,” a phrase likely true of many rare disease patient advocacy organizations. Even still, as we reach this time of Riaan turning five, we are taken back by all of the work and discoveries made possible over the last few years, all because our community united with us to demand a commitment from researchers to build the treatments our children deserve, with the urgency the situation demands. This is truly a grassroots, community-fueled effort, powered by love and of course resources, to develop potentially life-saving treatments for our beautiful, unforgettable children.

We cannot thank you enough for joining us on this journey, with Riaan, and for driving these revolutionary scientific advancements in combating Cockayne syndrome.

This is, indeed, the time of miracles. We are excited about what lies ahead. Happy birthday, dear Riaan. We are so proud of you for what you’ve inspired.

To Riaan, From Dad

My Dear Riaan,

12/12 is a day that changed my life forever. It was the day you were introduced to this world. I've seen you grow to the wonderful big brother that you are. To be very honest with you, this birthday has scared me. The doctors when you were diagnosed told us that you wouldn't make it to this age. However, you continue to surprise everyone and keep improving every day. I'm so proud of you. You're not only an inspiration to your dad but to the whole community. I shouldn't expect anything less from you. Your smile is contagious and your simple presence brightens rooms. Lu, your baby brother, also looks up to you, he doesn't want to be anywhere without you. I love you Riaan, keep doing what you're doing. You’re changing the world for the better. I'm honored to have you as my son. Happy 5th birthday and knowing you, we'll have many more to come.

Love, Dad

To Riaan, From Mom

My Darling Riaan:

Happy, happy birthday. For you, I live. For you, I fight. For you, I grow. You are the colors in the rainbow, the coolness of the breeze, the warmth of the sun, and the mystery of the sea. There’s nothing I wouldn’t do for you.

Here’s to many more birthdays.

Love, Mom

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Help us raise $5,000 to celebrate Riaan turning 5! Donate here, or through Instagram and Facebook.