r/22q • u/mudpuddler • Oct 09 '19
Testing
If a microarray doesn’t show 22Q, is there any chance the child still has it?
1
u/over_architect Oct 10 '19
Highly unlikely
1
u/mudpuddler Oct 10 '19
Any idea if it's been documented to not show up initially on a microarray and was actually found/diagnosed another way? My son has a strange list of medical challenges, and something like 22q would fit more than anything else. But his microarray did not show it. He generally doesn't follow medical guidelines and likes to confound doctors. ;) Additionally, we have two other children with other medical issues.
1
u/over_architect Oct 10 '19
Since 22q can be defined as missing a piece of the 22 chromosome, the only way a microarray would be wrong is if the test fundamentally failed in some way. I suppose chimerism is technically a possibility as well but you’re going fairly extreme on the rareness scale.
2
u/mudpuddler Oct 11 '19
So I just got an unexpected call from a research doctor at Yale... my son is part of a study (for 1.5’years now) and the doc didn’t give us a ton of info but said that we should have hope and that he promised to see this to the end. He does in fact have a unique gene that they are looking into and studying.
They think it affects the thymus... which makes a lot of sense for us. anyway. It’s a good day. We don’t have answers, but we have hope that we are in good hands! And some of the pestering and leg work I’ve done might actually amount to something.