Charlie's diagnosis

 After much testing and waiting, we've finally received a diagnosis for our little guy.  It's not what we had expected, but we are grateful to have arrived at it nonetheless.  As it turns out, Charlie has a missing piece of genetic material from his 17th chromosome, which means he has Smith-Magenis Syndrome.  Some common features of Smith-Magenis Syndrome include: mild to moderate intellectual disability (comparable to someone with Down Syndrome), developmental delays (walking, talking, etc), sleep disturbances, behavioral problems, and possible other medical problems (the most common are ears and eyes).  If you'd like to read more about Smith-Magenis Syndrome, here is a great website (click on "What is SMS?): PRISMS  After we heard the news, it made sense with what we know about Charlie.  The reason he squeaks while he breathes is due to floppy vocal cords, which is a symptom of SMS (he'll outgrow it).  Another symptom of SMS is skeletal abnormalities-- Charlie has a 13th rib.  Though the sleep disturbances will likely get worse, Charlie already wakes up every morning between 4:30 and 5:30am and is up for the morning.  (Lucy, on the other hand, awakes at 9am).  In terms of developmental delays, Charlie is already a bit behind of where a 6 month old (almost 7mo)-- he's not yet sitting up, or passing things from hand to hand.

Of course, this was hard news for us to hear.  But, really, we recognize it as a gift from God.  Which means it's going to be difficult, but that it will also bring even more love into our lives.  I wish you all could meet Charlie, because I know that many people who read this blog have not had that pleasure yet.  He has the most beautiful smile, and laughs so freely-- when you tickle under his arms, when you bring your forehead to meet his, even when you just shake your head back and forth.  Though I know things will likely get much more difficult as he gets older, I know that he will still be our Charlie, that he will still be a source of great joy for us and for many other people.  

In the midst of the difficult things about his diagnosis, there are a few pieces of good news: 1. There seems to be a decent amount of help and support available, even though this is a fairly rare syndrome (1 in 25,000).  Apparently we live in one of the best counties in the area in terms of funded (i.e. free) therapy programs for developmentally disabled children.  2. We have a great doctor, who has been very thorough and helpful.  3. Children with this syndrome are often not diagnosed until they are older.  Because Charlie is being diagnosed so young, he'll be able to get more help and intervention sooner, with both developmental delays and possible medical problems.  Also, we have a chance to prepare.  4. Infants with SMS often have a difficult time eating.  His doctor took one look at him and said, "But, I can see he is having NO trouble eating."

So, we are grateful for the gifts God has given us, both the ones that are obvious and the ones that may not appear like gifts in the moment.  Thank you for all of your prayers so far, and please keep praying for us.

Ok, Mom, that's enough.