We finally have answers!

I’m sorry I’ve been so slow in updating y’all… it’s been a hectic few months here. A few days after my last post, Micah ended up getting very sick with what we thought was an acute reaction to his rabbit broth. But turns out we all caught what seemed to be the stomach flu one after the other…

 

And then for about a week or so, he wasn’t eating, he was having very light pale stools and was losing weight fast. So on May 1st, we got admitted to Children’s yet again for almost 2wks (til May 13th). We had to find a reason for all this. So they did a lot of testing. Genetics finally got involved, and then audiology, and had a UGI (swallow study) done… everything looked okay from what they could see then and there. Except… we got the results of the chromosome testing. My boy finally had a reason for all his issues. It’s called 22Q11.2 (pronounced: twenty two Q one one point two) Deletion Syndrome or DiGeorge Syndrome or some even call it VCFS, but it is more widely known as 22Q. A part of his chromosome 22 is missing. That is why it’s called 22Q11.2. That name says where the deletion happened. 22 for 22nd chromosome, Q for the long arm and 11.2 for the specific part that is missing. You can see on this here that it’s a very small portion. But in there, there are about 35-50 genes. Those are missing. So his 22Q affects pretty much every system in his body.

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The major ones being: CHD (heart disease), Immune system (he has Neutropenia and on/off Lymphopenia), Endocrine System (his Parathyroid is affected. He has Low PTH levels now and his blood calcium levels can drop dangerously and cause seizures), Palate (we think he has a submucous cleft palate, but we need it checked at his next appointment), Kidneys (we have a LGI, lower gi U/S scheduled for Sept which will tell us if he has any issues there) and more… there are 180 possible signs/symptoms of 22Q, Micah has many of them, including severe speech & language delays (we are working on ASL and seeing an SLP for therapy), global development delays, facial features (low set ears, flat nose bridge, wide spaced eyes, dental issues/he has a geminated tooth), GI issues (his FPIES), severe FTT (he is very slow to grow and loses weight a lot), and more… There is also the fact that up to 50% of 22Q cases have some sort of Hearing Loss issue, but that we will know more about as he grows older. As for Neuro side, we are waiting a few months/years for ASD testing as he’s still too young.

So that is where we are now. Being followed by 9 different specialist teams on a 3-6mo basis for now. We are seeing Cardiology on the 15th for his yearly followup, so I will post an update about that. Hoping his PDA is finally closed up or we will possibly discuss surgery. And we then have Immunology and Genetics appts on the 30th. Genetics is a big one as we are now awaiting test results for mommy and daddy. If one of us has 22Q also, they will have to test big bros, Sam and Eli, because there is a 50% chance of transmission if someone has it and has children. Most cases are DeNovo though, meaning they happen out of the blue. But we don’t think that is the case for Micah. There are many aspects of 22Q that I can see in my husband and would explain his issues all through his life. Let’s just hope that from now on this means things might be a bit more clear and easier to understand now that we know.

I’m gonna leave you with a few updated pictures of my sweet almost 20 month old boy. Oh and he now weighs 20.5 lbs and is 31in tall. So tiny but getting there!

Oh you can also follow up with us on Facebook at our page: Micah’s 22Q/FPIES Life

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