Archive for category 22Q
Welcome to the name game. What do Di George, 22Q11.2 Deletion Syndrome, and VSFS all have in common? They basically all fall under 22Q11.2, which is the syndrome that Jenna has. What we decide to call it, really doesn’t matter, for the most part, they are the same. I think shortening it to 22Q is the easiest, and what most people are preferring.
Since Jenna’s diagnosis I have spent the last few weeks in research mode. What does this diagnosis mean? Why wasn’t Jenna diagnosed years ago? How could none of the doctors and specialists have know this is what she had? 22Q is the second most common chromosomal disorder in the world! Why aren’t professionals more aware of the signs? Basically, because these kids don’t “stick out like a sore thumb”, they go unnoticed. If you have a child who doesn’t have a major health issues (i.e. heart problems, immune problems, etc.), not being diagnosed is very common.
So, what does this mean for Jenna? For the most part we are very lucky so far. Jenna has been a very healthy child and her delays appear relatively mild compared to some. However, there are some possible “silent” health problems we need to check out. She will need to go to a cardiologist to have her heart thoroughly examined, she will need to go to an ENT to have her hypernasality checked out to see what type of palate issue causes it, she will need to go to an immunologist to check for underlying immune issues, she will need to go to a Rheumatologist to find a reason for her joint pains, she will need to have a kidney ultrasound, a C-Spine x-ray, and the list goes on.
I’m thankful to finally have an answer. Jenna is such a sweet little girls. Here is a link to her story on the Dempster Family Foundation site. They also have a lot of good information about 22q on the site as well.
We just got back from Tahoe and had a fabulous time! We braved it and drove with all 5 kids and grandma too. We stopped in Sacramento and met up with T’s parents and had a nice dinner at a little pizza place downtown. Tahoe was beautiful and the weather was perfect. We spent our days hiking, hanging out at the beach (lake beach that is), kayaking, and eating a lot of good food. It was great to spend time with the family. The trip ended with a dance performance choreographed by Kami and Kaitlin.
While we were there, T and I celebrated our first wedding anniversary. We got away from the kids, went gambling at the casino (only lost $3.00) and had a wonderful dinner at a very romantic restaurant.
Now for an update on Jenna and her diagnosis. We have an answer. She has a chromosomal disorder called 22q deletion, aka DiGeorge Syndrome. It explains a lot and is why she has learning disabilities, as well as other physical issues (low muscle tone, joint pain, etc). We are very lucky that she has not had the heart issues that many have, or the low calcium levels. However with this new diagnosis, we will be seeing many specialists just to confirm all is good with her health. I’m still in the process of researching it all, but again, we have an answer and that is huge!