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Chase and KAT6B, Coatesville, PA (2025)

10/20/2022

Hi!! It’s been awhile since I’ve updated. We’ve had a few appointments recently.

Chase had a follow up with GI, he is doing very well with the regimen we have. He’s up to eating 5oz, sometimes he eats 6oz. He’s p**ping much better, too! No more struggling. We have another follow up in November.

Chase will move down to 16/18 hour wear in November! I’m so excited for this! I can’t wait to play with his little toes for longer than an hour a day. He is doing SO well with his brace. He tolerates it and will sometimes fall asleep when I put it back on him before bed.

We saw genetics last week. We really did not get any new information but did get ordered to see endocrinology to check his thyroid levels and to a developmental pediatrician. They did let us know that we can reach out at any time with questions or concerns.

We saw cardiology today. Like with his kidney and bladder ultrasound, this was just precautionary. Sometimes with KAT6B there can be abnormalities with the heart. Chase had an EKG and an ECHO today and everything looked perfect. Cardio said that we do not need to follow up with them unless any new research comes out seeing heart problems developing later. We’re super relieved about this!

Chase was supposed to have surgery tomorrow to repair his hernia and bring down his testicle. But we’ve all been battling colds so the surgery got canceled. Anesthesia was concerned because he has a j***y cough and they don’t want anything happening during surgery. I’m happy to postpone since he’s been sick.

Still on the list of appointments are:
MRI the first week of November - this MRI is checking the ear structure related to his hearing loss
GI and Nutrition follow ups (I don’t see anything big happening with these)
His 6 months (!!!) well visit
Ophthalmology - there can be some vision problems and Chase’s eyes are small so we want to make sure they are open enough for him to see properly
Neurology in December

I’m very anxiously waiting the neurology appointment. Out of all the potential issues, I think that one is the scariest for me. Chase could have neurological issues like developmental delays, intellectual disabilities, his corpus callosum could potentially be not developed. There are so many unknowns.

He is such a happy boy. He loves talking to us and laughing at his sister. Overall he is doing very well and we are feeling very lucky that we’ve been seeing mild symptoms of his disorder. We still have some things to check on but I’m keeping hoping there’s no big issues.

Thanks for following along with us! ♥️

09/13/2022

Chase had a kidney and bladder ultrasound today. All looks clear! I don’t know if that means no problems later but I’m taking this as a win for now 🥰

09/09/2022

It’s a been a quiet week, thank goodness. We had our first PT session this week but it was mostly paperwork. I did get some exercises to start with Chase to work on head control. We’ve been doing some a few times a day and he’s doing well.

He is such a smiley boy right now! He loves smiling and laughing at his sister. He will interact with us when we’re face to face. It’s so much fun.

Hope everyone has a great weekend! I’ll be posting more next week about his reflux issues, Clubfoot information and some other info that I think would be helpful to know 🙂

09/02/2022

Our appointments went well today. He saw orthopedics and GI.

GI: just a follow up for reflux and p**ping issues. He is doing well with his reflux. He’s on Nexium twice a day and doing SO WELL. Before I would barely be able to get him to eat .5oz at a time. Now he’s eating 3oz-4oz at a time AND it’s extra calorie so he’s getting a good amount of calories when he’s eating. HOWEVER, he’s still having some p**ping issues. He seems to have trouble actually p**ping. I have to help him p**p (which sounds as fun as you can imagine). The dr suggested doing an e***a to see if anything is blocking plus adding lactulose. From Dr Google “Lactulose is a colonic acidifier that works by increasing stool water content and softening the stool. It is a man-made sugar solution.” So fingers crossed we can get that figured out.

Ortho: we had a brace check. He’s doing very well with the brace and everything is looking good! I have a whole Clubfoot post coming soon! It explains the process 🙂

09/01/2022

*Knee cap update:*

The dr finally got back to me and said in parent terms that Chase likely does not have knee caps. What does this mean? I have no idea. But he will have to get an ultrasound of his knees to confirm.

According to Dr Google, babies are born with kneecaps made entirely of cartilage, so their knees are called ‘cartilage patellae’ (literally cartilage kneecaps). The cartilage will then harden into the kneecap as they grow older.

What does this mean for Chase in the future? I have no idea. We see another geneticist in October who has a little better understanding of KAT6B related disorders. So hopefully we can get a better grasp on some things. I will post information as I get it.

Also - if anyone has any questions, feel free to ask! I’m an open book. I may not have all the answers but I can try 🙂

Tomorrow is a busy day: we have an orthopedic appointment and a follow up with GI.

09/01/2022

Chase got molds made for his hearing aids today. Hearing loss can be a component with KAT6B related disorder.

Chase failed his newborn hearing screen. This was not surprising to us. His sister has hearing loss (it’s unrelated to KAT6B). With her hearing loss, we had a 25% chance he would as well. BUT their losses are from different genes. Our daughter’s is severe to profound and Chase’s is moderate to severe.

We should get the hearing aids in 2-3 weeks. I’m super excited to get him started with the hearing aids! 🦻🏻

08/30/2022

In some cases of KAT6B, there can be knee abnormalities or absence of knee caps. (Seriously, who knew?)

Chase had X-rays of his knees taken today. He did very well. He didn’t like laying down for them but our X-ray tech was so quick!

I did get results back but I have no idea what they mean. Why can’t they send a copy of results with parent friendly terms? 😂

Once I get confirmation of the results I will share them here.

08/29/2022

Chase had his evaluation for Early Intervention today. We had been referred to EI by his pediatrician for his hearing loss. (This was no surprise to me because of Hayley).

He was a rockstar during the evaluation. The evaluation just looks for how he’s developing and what he can improve on with the help of services.

We will be starting weekly physical therapy to work on his head control, strength for tummy time, plus giving me some tips on how to help him roll and sit more comfortable with his brace on. He will also start therapy with a Teacher of the Deaf every other week, until he gets his hearing aids then we’ll go to weekly.

Chase is now enjoying a well earned nap before we head to CHOP for a X-ray of his knees. Busy busy day today!

08/28/2022

When Chase was born, he had some dysmorphic features. The drs kept saying this and I had no idea what it meant. Having just had a major surgery then having to care for a tiny human I didn’t think to have them explain.

So straight from Wikipedia (😂) “A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature.”

Chase’s included: low set ears, lack of eyebrows and eyelashes, smaller eyes, thin upper lip, loose skin. He also had a few other differences at birth: the Clubfoot, he lacked fo****in (basically he was “naturally” circumcised), he had an undescended testicle. The combination of all these things made the hospital doctors think there could be a disorder or syndrome to explain these differences.

While at Women and Babies they did a blood draw for some basic genetic testing. This testing came back normal simply because it was just a basic test testing for obvious genetic disorders (Down’s syndrome, some of the trisomy disorders, etc). We were referred to CHOP genetics.

Thinking back, I had no idea what any of this meant. I knew there was a chance of hearing loss obviously because of Hayley. But I had no idea there could be other issues at play, too. You are given this tiny baby then told there are things that aren’t normal. I am SOOO thankful for early detection and being able to get answers so early: don’t get me wrong, but it’s gut wrenching. When we left the hospital, we already had 3 referrals to other drs. We needed to see Urology, Orthopedics, and Genetics. OH, and audiology because of course, he failed the hearing screen.

Posting my favorite picture from the night he was born. You can see in his hand and arm the loose skin.

Chase and KAT6B

10/20/2022

09/13/2022

09/09/2022

09/02/2022

09/01/2022

09/01/2022

08/30/2022

08/29/2022

08/28/2022

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