Genetics appoitment

We saw a genecitst in Newark.  He was really knowledgeble on how genetics works but not on this syndrome.  And, he confirmed the PDD_NOS diagnosis.  The doctor is on the New Jersey Govenor's board for Autism research. 

I may love our insurance casemanager

He helped push to get Matthew approved for the bloodwork.  YEA!

Matthew was being his usual hammy self.

Chris was playing in his sensory area. 

Jon making his funny face.

Moving forward

Where do we go from here?  We need to start thinking about Christopher's future educationally and when he's out of school.  Educationally, we're looking at a cross between an autistic classroom for the ABA training and a preschool disabilities classroom to help with social skills.

We've not gotten straight answers as far as most other things.  The closest doctor in our area that deals with his 16p11.2 syndrome is in Boston.  That's almost 5 hours from here!  We did find a genetic doctor who will help if we participate in a study.  We're game.

I hope they can help since our insurance will not test Matthew for the same thing.  He really needs this test.  If we can't get things taken care of, I'm calling news stations, etc.  Hell hath no fury like a mama fighting for her kids!

Fuck

Sorry, no one ever said this blog would not have cuss words in it :)  We got the official diagnosis today.  Christopher has a duplication of the 16th chrosome.  His specific area is 16p11.2, region 29,530,197-30,085,308.  He is showing characteristics of autism, which we knew, but is an aspect that could happen with this genetic syndrome.  He is also showing signs of being intellectually disabled.  No matter what the diagnosis, he is still the same boy as he was yesterday.  Now we just have the missing piece of the puzzle which will let us help him even more.

I can't write much more without crying right now so I'm off to have a date with my bed and pillow.  I need a good cry!