Disability

We always knew there was something not quite right, but it was a little bit of so many things that it was really hard to put a finger on. He has been to so many different doctors over the years and none of them ever caught on to everything that was going on. It seems like they will just check out the current problem but not even try to put it all together. I must admit, each thing seperately does seem to be it's own problem and can very well have a completely different cause, but putting it all together, it kinda made scents. The Autism diagnosis did seem right but we knew there was something more to it, with all this other stuff going on that does not fit into the Autism diagnosis. So when we finally got a genetic test, we were expecting it to come back as Fragile X syndrome. I was so surprised that it came back negitive but came back as a deletion in Chromosome 19p13.2, I was even more surprised to find out that no one has heard of this before. They looked it up before we got there for his appointment, and the doctors couldn't find anything on it. I have joined a few rare chromosome groups and that is where I found everything I know about this. It is going to be a life long learning process for us and it is a shame that we don't know more than we do, but what I do know is this...our little boy is the most loving boy and he has this power in him to make the worst day, better by just looking at you and smiling. He is amazing and innocent and loving and wonderful and every day we have with him is a blessing from God.