Tuesday, September 7, 2010

22q and Other Possibilities

Little D has been struggling with feedings pretty much since birth. I never realized this while he was breastfeeding I think because he just adapted to get the nutrition he needed. Also, I had not other comparison. I thought it was supposed to sting... a LOT! ha ha. Now I know that wasn't a normal latch that he had. Little Sis has a very normal, very adequate latch. I always see part of her tongue and she uses it to help herself feed. Little D never used his tongue, at least if he did I never saw it. In any case Little D has continued to have health concerns along with his  developmental delays. Back in June we saw a child psychologist at our local child development clinic and she told us his facial features were very similar to a genetic condition called 22q11.2 deletion. Basically part of the 22nd chromosome is missing and it causes a lot of health problems in many systems of the body ranging from mild to severe. Then, in Late July we saw the pediatrician at this same clinic and she confirmed the psychologist's suspicions. She put in referrals for the GI specialist and a geneticist. The GI specialist was because Little D has acid reflux. Several times a day he is refluxing to the point where I notice him choking and sputtering, turning a little red in the face, etc.. She also prescribed a strong anti-reflux medication in the hopes that it would stop the refluxing. It hasn't. Anyway, that's why the regular pediatrician ordered the GI tests. Pretty much everyone is concerned that Little D is aspirating (breathing in liquids or stomach contents). This aspiration could be causing his frequent respiratory infections, so it's important to figure it out or one of these times the infection could turn into a serious case of pneumonia. Little D was diagnosed with dysphagia today at his swallow study, which means they saw him swallow liquid down his windpipe. Scary! I saw it too, a little black streak down the tube. Not a good thing! The good news is we know it's happening and we know what to do for him now. All of his liquids need to be thickened. Yummy, I know. They are now the consistency of thin gravy. I thought it wouldn't bother me, but let me tell you, even apple juice is gross when it's that thick.

So unfortunately, the aspirating isn't a confirmation or elimination of 22q. We still have to wait on genetics for that (December). We will get to talk to the GI doc later this month though and he'll have plenty to look at with these two tests already done before we get there. That should make his job easier. We're also seeing ENT and the swallow study results will help that doc too, so whatever the problem is, we're on the right track.

I'm thinking that GI will help us know why he's refluxing and ENT will help us know if he needs surgery to help him breathe better. His tonsils are huge, two doctors have confirmed that much. The adenoids, we'll have to see. I don't know if the ENT doc would order the test to look at them since he'd have to be knocked out at this age, but I guess we'll find out.

So, in summary, Little D has a lot of other health problems beyond the developmental and speech delays. The health problems aren't well defined, but we're working on it and it's perfect timing because they're just getting worse enough to interfere with his daily life. Perfect timing because a lot of doctors won't intervene until the problems are enough of a, well... problem. That's the skinny. Now if only I could say the same for my jeans. *sigh* soon enough, I hope.

1 comment:

  1. Alice,just want to say hello and thank you for your blog. I am with you all the way that it is so important that Mums (especially of kids with special needs) don't feel alone. My Stephen is 12 and he was diagnosed this week by the genetics guys in Crumlin that he is missing part of his 5th chromosome. And just when I thought we were getting a diagnosis and perhaps I could link in with a support group, the docs tell us Stephen is unique. They can find no other child/adult in the world with the same deletion!Wishing you and your family all the best, Avril avril@offwego.ie


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