Hanging in there

The last few months have been a whirlwind.  Some days we feel like we are barely keeping our heads above water.  Day to day life gets so overwhelming at times with 3 kids (an extremely high energy 6 year old, an autistic 4 year old in the midst of potty-training, and a full-fledged toddler who likes to climb everything).

Since Matt's diagnosis of 15q24 microdeletion syndrome, he has undergone a lot of expensive testing.  The good news is that his brain, spinal cord, and heart all appear to be structurally normal.  The bad news is that his insulin-like growth factor 1 (IGF-1) and thyroid stimulating hormone (TSH) are low.  We have an appointment with a pediatric endocrinologist next week to discuss what comes next.  We've already been told that he will have to undergo a workup in the hospital for growth hormone deficiency.  From what I've read about this process, it will not be a fun day for Matt-man :(

All parents of special needs children understand the financial strain medical and therapy bills can take on a family.  I did have to start working full-time 3 1/2 months ago and am grateful to finally have good health insurance as a result.  With our old insurance we had met our very high deductible pretty early in the year, but were still paying hundreds extra each month in co-insurance for Matt's various therapies and medical bills. Applied Behavior Analysis (ABA) therapy is one thing that will not be covered by our new plan, but the state of Ohio is working toward insurance reform, and there is a chance that ABA therapy coverage could become mandatory within the year.  We are keeping our fingers crossed for this to happen!!

In terms of Matt's overall progress in therapy, we seem to be taking 2 steps forward and 1 step backward.  If we look back to where he was a year ago, he has made incredible progress, but it is easy to forget this on a day to day basis because the older he gets the more obvious the difference between Matt and his neurotypical peers becomes.  

Today I took him with me to get an oil change for our vehicle.  He spent the entire time making guttural noises from his throat, climbing on the furniture, doing headstands, and at times just writhing like he wanted to crawl out of his skin.  He then proceeded to lay face down in the middle of the waiting room and started to lick the floor.  I felt embarrassed for him and wanted to lie to protect him from being thought poorly of when someone else in the room asked me how old he was.  

I feel sad for Matt when I think about how he is perceived by the neurotypical world in which he lives.  I don't want anybody thinking poorly of my little Matt-Man.  He is so smart and charming and a true sweetheart.  What the other people in the waiting room didn't understand is that Matt hears fluorescent lights.  When he is in a place with a lot of them (like today), we've noticed that he consistently goes into sensory overload and has no idea how to cope and drown the lights out.  In these environments, he has a hard time even understanding his name when I call him.  I'm sure he needed his noise-cancelling headphones and to be body-brushed from head to toe, but I had failed to bring his body brush or his headphones.  I'm also torn over the idea of body-brushing in public.  When we got away from the lights and into the van in the parking lot, he was his old giggly charming self again.

I feel blessed to be Matt-Man's mommy.  I do hope that life gets easier for him and that I get better at teaching him to cope with difficult situations.  He has a long road ahead with daily therapy, a world that doesn't "get" him, and now the possibility of daily injections of growth hormone.  Through it all, he loves to laugh and be a clown.  He brings joy to all who have taken the time to get to know him.  Thank you, God, for our little boy.

Matt, 4 years old
Photo courtesy of  Remember When Photography by Jamie Jahns

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."