PYHO: Rare Disease Day

Today is more than just February 29th.  Today is Rare Disease Day.  We live the world of rare disease day every day.  With Christopher's 16p11.2 duplication we live this every day.  My hope is that everyone understands that, although he may look "typical" the extra 555kb of genetic material in him has created havoc in his tiny body.

Not only has the extra portion to the 16th chromosome cause his autism, but it causes his apraxia, phonological disorder, abnormal eye cup pallor and delayed myelination.  

His chromosomes also created an adorable little boy with blond hair and blue eyes like his mama and a chubby face round face like his daddy.  It can be hard to remember that for some people who look at nothing but the paper diagnosis.

I contacted a behavior therapist after last week's post.  I'm waiting for them to contact me back but we've had more "good days"' than bad.  He is still having his moments though.