DiGeorge? 22Q11.2 Deletion Syndrome? VCFS?

1085150_207399699418419_1559807765_oWelcome 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.


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