15q24 Microdeletion Syndrome

As you can probably guess from the title of this post, we finally have a medical diagnosis that more fully describes Matt-man and his many unique features and challenges (thanks to some expensive lab tests known as the CGH microarray and FISH).  We learned that Matthew is missing 9 genes on the long arm of his 15th chromosome including NEIL1, MAN2C1, SIN3A, PTPN9, SNUPN, IMP3, CSPG4, MIR631, and SNX33.  It doesn't really change anything, but it gives us a better idea of what to expect and what other health concerns to be on the lookout for.  Many of the things we find most endearing about Matt-man, like the cute way his ears poke out, are a part of 15q24 microdeletion syndrome.  Here is a great link to an informational booklet about the syndrome 15q24 Microdeletion Syndrome.  It describes things much more clearly than I could.  Unfortunately, genetics is not my medical specialty!

Thank God for good friends!

These past few weeks have been filled with a lot of uncertainty as we await the final results of Matthew's genetic testing.  We were supposed to get this done as part of his initial autism workup 9 months ago, but we waited until we had met our insurance deductible and life had settled down a bit from initial doctor and therapist appointments.  He had a test done called a CGH microarray, which can detect tiny chromosomal abnormalities.  This actually did pick up a possible chromosome microdeletion, so we now have to wait for the results of a more targeted test called FISH before we know anything for certain.  If this second test is positive, it doesn't really change anything as far as current therapy and treatment goes.  What it does do is give us a better idea of what is going on and what other health problems we need to be on the lookout for.   As you can imagine, the past 3 1/2 weeks since getting his blood drawn have been a little bit emotional.  A dear friend from church sent me this note and scripture tonight.  It was just what I needed to hear right now.

"I was awake at about 4am and thinking about Matt (among other things) and this scripture from Psalm 139 came to me, and I felt I needed to personalize it and share it with you. As frustrating as autism is, it is really cool to know that God made Matt just the way he is and God has a plan for his life....

For you created Matt-Man's inmost being;
you knit him together in Evangeline’s womb.
We praise you because Matt-Man is fearfully and wonderfully made;
your works are wonderful,
We know that full well.
Matt-Man's frame was not hidden from you
when he was made in the secret place,
when he was woven together in the depths of the earth.
Your eyes saw Matt-Man's unformed body;
all the days ordained for him were written in your book
before one of them came to be."