It does takes time to see if the medication is successful. We spoke to the head of the trial and they said it will be 3 months. An echo every month and bloodwork regularly. If the hypertrophic cardiomyopathy continues to progress it's considered a failed trial. After that we're a bit stuck, so if I seem stressed at all the next 3 months…I'm just panicking inside. Again, trying to leave it in God's hands.

Sometimes I feel like just when I wrap my head around one thing, God sends me a curveball to just make sure I keep trusting. With my first 3 kids I realized that in the last 7 years since having my oldest Adelynn I have never had to take them to emergency, for extra doctor visits, or even get special medications (other than for pinworms….ew). They have been the pinnacle of health. What a blessing. We've also always been “should be okay” kind of parents. Never too stressed, generally assuming their immune systems would do the job, and mostly not worrying too much.

Fast forward to Judah. Now the shoe is on the other foot. Rather than assuming normal, my brain instantly catastrophizes everything.

When he was born I noticed one bum cheek was larger than the other. I didn't think much of it, but over the next few weeks as the swelling went down we saw he has a large port wine birthmark extending from his left leg up to his left bum. Again, didn't think too much of it. Then yesterday I noticed the whole left side is bigger than the right. After some intense google spiraling I realized he was showing some indicators of KTS syndrome (an entirely different genetic condition). It's rare, and frankly, I instantly panicked. Have 2 genetic syndromes seems entirely unfair for a little boy.

I was definitely hoping when I showed the neonatologist they would say it didn't look concerning. Instead she said “oh that is quite unusual.” Not what I wanted to hear. Anyways, now to see dermatology as well and potentially a vascular specialist. Please pray it's just a birthmark. Logically I know that's the most likely, but rare has been Judah's motto so I tend to jump to the worst outcomes.

So that's it. Next step discharge. Are we overwhelmed? - entirely. It will be good to go home though. Different, and hard in a new way, but good. Judah is such a content baby which is so helpful. When I was pregnant I begged God that he would be healthy, but if he wasn't that at least he would be happy. God answered the prayer, in more ways than one. Judah loves just quietly looking around and watching, and happily settles himself to sleep. You'll only hear him cry when he wants food, and then he can howl. A content but strong lion cub 🩵.

Today Judah is 1 month old! He's been beating the odds and was a mini miracle in how well he was coping with his bad heart. Praise God for answered prayers! We were just discussing discharge after this weekend since his apnea episodes had decreased quite a bit. Not 100% gone but making progress. He also failed his first hearing test but passed the second one so I was feeling like it was good news on good news! Fast forward a few hours, and we find out his echo shows progression of his hypertrophic cardiomyopathy and the cardiology team thinks it's time to start the MEK inhibitor (cancer medication) as it looks like it will continue to get worse.

I imagine I literally looked like a balloon deflating.

Joash was working this week because, admittedly, we weren't expecting bad news. I also have the two girls with me, so trying to keep my tears inside has been tough. Luckily when I cried in front of 15 professionals at rounds today they were not present. You haven’t really experienced embarrassment until you have 15 people watch you awkwardly sob. Joash and I tried hard to not get our hopes up, but the reality is you do. Judah's heart was stable and I had already started planning ahead. In the nature of trying to control things (as I do) I had already researched potentially how long it would take before he “grew” into the thickening. Control is hard to let go of, and this is another little nudge that there's only One that knows the future, and despite fighting it tooth and nail, it's not me.

Today we discussed his case with the head of cardiology. Basically the thickening has increased in the last two weeks on the left side and the obstruction has gone from mild to moderate. Not yet causing problems, but will very soon if not treated. I'm glad it was caught quickly (previously they were going to wait for the next echo) but also disappointed it's started again. In RAF1 noonan syndrome the hypertrophic cardiomyopathy is a bit like an off on switch. When it's off - great. When it's on…who knows when it turns off again, if ever. As my cardiologist tried to reassure me, before this medication kids in Judah's position just died. Riddle me not reassured dear cardiologist.

He is correct though, that trametenib (MEK inhibitor) had been shown to be very effective in treating the thickening and even reducing it. Downsides are it's a relatively new trial, the side effects can be significant and long term side effects haven't been studied, and it is very hard for kids with RAF1 to wean off of it. It works, but it seems when you stop taking it the thickening often progresses again.

These are all worries for another day, since right now we just really need it to work. If not, we're out of options besides a heart transplant so prayers prayers prayer please!

I don't know if prior to the past year I could really think I've ever experienced a full stomach drop moment where you feel sick and overwhelmed and wishing the world would stop spinning. Now it's happened more times than I can count. I don't roll with the punches well. Outside of his incredibly bad heart Judah is doing wonderfully. So wonderfully that it is near impossible for us to imagine how sick he is.

So now Judah went from being almost discharged to a very popular little boy. He needs baseline assessment from most teams now before he starts this medication. Ophlamology, labs, EKG, Gastrology, dermatology etc etc. This gives them a starting point incase the Trametenib starts causing problems (prayers it doesn't!).

As a side note. I've been able to connect with other RAF1 noonan syndrome parents all over the world and it's been wonderful. So many godly christian women who are on similar journeys and relearning trust daily and to take each day as it comes. When you're starting on a long, overwhelming journey it's so amazing to hear from moms who are walking it in their own unique ways but with the same faith in a God who sees and knows each small person he creates for his divine purpose. The outcome may not be positive, but we have faith that Judah is chosen by God and his life has value, no matter how long it is (but hopefully very long!). And ironically, Judah looks like some of them more than his own siblings! A little family around the world.

“I lift up my eyes to you,

to you who sit enthroned in heaven.

2 As the eyes of slaves look to the hand of their master,

as the eyes of a female slave look to the hand of her mistress,

so our eyes look to the Lord our God,

till he shows us his mercy.

3 Have mercy on us, Lord, have mercy on us”

Psalm 123:1-3a

Last week already some doctors had been pushing for discharge. Joash and I struggled with this a lot because Judah has still been having severe breathing events where he chokes (silent reflux and aspiration) and then stops breathing and turns blue. A few doctors said he would “self recover” but after us and some nurses left him without intervening we realized quite quickly that he, in fact, does not recover. They're also silent, so it isn't as if you get a hint. He just stops breathing. I remember when I was pregnant saying I did not look forward to the advocating part of being a medical parent (or frankly being a medical parent in general 🫣). It helps being a nurse and working in the system, but also means I'm aware how quickly you can fall through the cracks. I tend to be more of a people pleaser, so it can be hard to stand my ground.

Today we had a lovely doctor who looked at all the events on Judah's monitor (finally…) and determined very quickly that he was absolutely not safe to go home. Turns out he understood that I don't have eyes in the back of my head, and can't stand and watch him all night. This is relieving, but also means that we may be here a while. It's not an easy fix, and mostly he probably just needs time to get stronger. The most likely culprit is some lower tone and a floppy airway. In severe cases they would have to do feeding through a GJ tube which surgically puts an entrance through the stomach and then feeds it into his small intestine. This obviously bypasses the stomach and means no reflux. However, he's now feeding orally with bottles 100% (ripped out his on NG multiple times 💪) and loves it, so that would not be ideal.

Tomorrow he also has another echo. He hasn't show any signs of worsening heart failure, but still it can be subtle. Please pray for continued stability.

This past weekend I went home for a few days. Janella will be heading back to Perth Australia and we wanted to all spend some time together. I was an experience leaving Judah out in Vancouver and coming home. Its hard to leave the one to join the others, but sometimes that's necessary. It will be interesting when Judah does come home. Right now it feels like we're just living in two different worlds.

Janella has been a literal gift from God. She'll get embarrassed reading this, but we wouldn't have survived the last 6 weeks without her. She gave our kids stability and love and was a second mother to them, and she was a shoulder to cry on and a friend to talk to. To say we'll miss her would be a huge understatement.

Ecclesiastes 4:9 “Two are better than one,
    because they have a good return for their labor:
If either of them falls down,
    one can help the other up.”

Proverbs 17:17 “A friend loves at all times,
    and a brother is born for a time of adversity.”

Since Judah works so hard to eat he spends 22 out of 24 hours sleeping. This means I can feed him, hold him (acid reflux) and then spend time with the kids at RMH while he sleeps.

Yesterday he pulled out his NG tube which I was actually happy about. We could switch sides (hasn't changed since he was born) and also the first time I got to see his face with no tubes! Didn't last too long but I snapped a lot of photos. Might be a while before that happens again.

Monday kicked up again as usual. As with his heart, we're taking a watch and see approach with his breathing as well. Any activity (feeding, physical therapy, etc) just tires him out way more than a typical baby. Currently waiting to see if he needs more respiratory support (CPAP while sleeping) or if he just needs more time to build up his energy. With such a big heart, even though it's functioning “well” it's still a lot of work for Judah to just pump blood effectively, let alone do anything else. We may end up needing to go home with a combo of a feeding tube and bottle/breast just so he doesn't tire out so much. If he works too hard all the calories he gets in from eating he just burns off at the exact same time. Thankfully right now he is gaining weight remarkably well and is a chunky little boy. A huge percentage of kids with noonan syndrome have failure to thrive, feeding issues, and low tone so the fact that he can breastfeed and gain weight is wonderful. We just can't push him too hard. His swallow test showed he does have some aspirations and reflux so we elevated his bed, hold him upright, and started him on reflux medications. No results from the sleep study yet so hoping maybe that shows us some more information.

Cardiology reviewed his case again today and decided that they would do another echo next week. Not because anything changed but just to be safe. I'm quite happy about that, it felt like doing monthly when he's only 2 weeks old was a bit quick.

And thank you again, over and over thank you, for all the help from family and our church community and friends. The meals, babysitting, and all the check ins are so wonderful.

Romans 12: 4,5 “For just as each of us has one body with many members, and these members do not all have the same function, so in Christ we, though many, form one body, and each member belongs to all the others.”

Here's a few photos from the kids this weekend:

We are doing a lot of practicing, and making slow progress. So I am also learning to be patient and lower my expectations.

The major problem we're having right now is tachypnea (fast breathing) and what seems to be silent aspiration. He's confusing the whole team as he seems to be compensating well enough, but his respirations are far too high. This affects his eating, weight gain, etc etc. Also he is still having severe episodes where he seems to choke or aspirate and then stops breathing. Then his oxygen and heart rate drops and he turns blue. Sometimes it takes a few minutes to get him back to normal with some stimulus and oxygen. The unnerving part is it's usually at night when hes sleeping, so if he wasn't on the monitors he would just stop breathing. Very stressful.

We've done a swallow study and a sleep study and just waiting to see what they say. Right now no one quite seems to know the reason why. He loves to eat and takes a bottle and breastfeeds well. However, when he has tachypnea he gets too tired and starts to choke. So can't make too much progress until we figure out the breathing first.

Here is grumpy Judah just wanting his food, waiting for the swallow test.

Cardiology looked at his echocardiogram on Tuesday and said that everything is stable right now. He has severe biventricular hypertrophy but his heart is compensating well enough at present. It's wonderful news so thank you prayer warriors! Now the echos will be monthly. It makes me nervous to not have them more frequently, but we're just learning to lean on God and take it one day at a time. If they stay stable we will continue as we are, and if not will need to start medication.

I've also been slower to write since we've been having the girls come frequently. I miss my Mr. Micah but he does love the attention and being on his own with Auntie Janella. The girls are very well behaved and I feel very blessed that in the last 2 weeks we've been here I've been able to see the girls (and Micah) a decent amount. Also Auntie Deanna arrived from Cape Town (with her kiddos) so we're all very happy about that.

Jeremiah 29:11 "For I know the plans I have for you,” declares the LORD, “plans to prosper you and not to harm you, plans to give you hope and a future".

Judah has been improving a lot this week. I can be difficult sometimes, when you look at him he just seems like a “typical” baby. Then you read a cardiology report and you're reminded its definitely not so typical. However, as the cardiologist said “he's surprising us all.” I'm going to call that a miracle and hope that his heart cooperates 💗. It can be difficult to not think ahead if I'm honest. We do worry about the heart, the therapies, the cognition, his growth etc etc. However, having him earthside does mean focusing on little wins and trying hard to not worry about the next steps. Over the last few days he's been able to slowly come down to low flow oxygen and for a brief minute to nothing (snapped a quick photo) before he ultimately had to be put back on. However, he's been more alert, breathing better, and having less apnea (blue episodes). He's even been able to breastfeed a few times. This does tire him out so we may switch to a bottle. However, that's far better as we were expecting he may need a feeding tube long term. We'll see, but glad that potentially we can skip that.

Judah has another echo next week to check progress. It will likely just keep continuing that way. Lots and lots of echos (no complaints). He'll need lots of other tests too (hearing, vision, lungs, gastro etc etc) but right now luckily most things seem to be “working properly” which is great news. We had thought maybe his breathing spells could be related to sleep apnea or a floppy airway. Sleep apnea is still possible and they'll do a sleep study at some point, but the airway issues were ruled out which was amazing. Small miracles (and big) everyday.

We have a little lion theme going, you may have noticed. Jacobs blessing to Judah:

Genesis 49: 9 “You are a lion’s cub, Judah;
    you return from the prey, my son.
Like a lion he crouches and lies down,
    like a lioness—who dares to rouse him?”

Judah's echo remained unchanged from the previous week which is good news. I guess we would call it “stable bad.” Judah has bilateral thickening to both his left and right ventricle. Cardiologists usually classify is as mild, moderate or severe. Judah’s is considered moderate, but the left ventricle (pumps blood to the body) is thicker than the right side. It also has what they call left flow outflow obstruction which means the thickening has started to obstruct outflow through the mitral valve. This leads to turbulent blood flow and something called “diastolic dysfunction.” This means the muscle is thick and can't relax between beats, which leads to it not filling properly with blood and not as much oxygenated blood being pumped to the body. Judah also has pulmonary valve stenosis which is a thick pulmonary valve that doesn't function quite properly. Not as problematic but may need surgical intervention at some point.

As for treatment. In previous notes I had mentioned a few of the options. Progressive thickening = trial cancer medication to try to stop it. If that didn't work we would move to potentially a heart transplant (tho However, our current situation is stable. Stable = watch, monitor, and pray it doesn't get worse. Basically Judah will live with heart failure and hopefully overtime “grow into a bad heart.” When he's older it's possible to do more cardiac interventions such as something called a septal myectomy where the thickened part is cut out surgically. Modern medicine is a gift. As a baby, however, imagine doing surgery on a heart the size of a walnut. Virtually impossible. That is why hypertrophic cardiomyopathy in infancy is so dangerous and can be fatal.

The reason I titled this faith over fear is because Judah's heart can thicken at any time. No reason, no signs, just thicken. It is crushing at times to live with that reality. And yet, God. God is here in the fear, and he is writing a story that we are not privy too. So when I fear, I say out loud “God he's yours, you redeemed him, and I give him to you.” Does it always work, no. But we try.

For breathing and feeding Judah has been doing moderately well. Small steps! His oxygen needs haven't changed but we're hoping with time and growth it's just his body needing a bit extra help. This of course affects the feeding. Slow and steady wins the race though and we've had a few successful attempts at the bottle and breastfeeding. He just needs lots of breaks and can only try a few times a day. Imagine running up a mountain and then told to breathe through your nose and drink a bottle of water. Once we try a few times Judah is exhausted and crashes out for most of the afternoon.

We also got to see Stephanie and Eric while they're here from Smithers for their youngest daughter Annie. Annie has Langerhans Cell Histiocytosis Cancer. Try saying that twice. Annie is such a fighter and has been doing so well. It's been a long journey for Stephanie and Eric and their family and they are all too family with BC Children's and RMH. Annie still has one spot that hasn't gone away, which means no remission but is currently stable. They have to come down regular for MRIs to monitor. Speaking of faith over fear, they've both been such an example to us patiently waiting on the Lord while living with the fear that the cancer is never “quite gone.” Did we love that BC children's was our meet up spot…not so much. Was it wonderful to see them? Yes. Please pray for good results from her MRI ♥️