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.

A little background

Our son was born with severe projectile vomiting and a minor hypospadius. He had a very hard time gaining weight and struggled with it for several years. He was a vegitarian by his choice for the first 5 years, now he will eat a little meat but there is still not a whole lot of variety in his diet. His favorate foods are chicken nuggets, peas and ranch dressing. We did have testing done on his stomach but everything came back normal. He has had more ear infections then I care to count. A lot of times they were just one right after another. He has a very low perception of pain, he hardly ever complains of his ears hurting although I know it is painful. He has always pulled and played with his ears even when they don't hurt, I think it is a habit now. He was slow to walk and most milestones were delayed somewhat. He didn't talk until he was 4 years old. It was more grunt and point and babbling. He still is in speech and is making a lot of progress with it. He is very shy and won't talk to strangers, even with a lot of family that he sees quite often, it is hard for him to talk to them. He has selective mutism as well, which does make his life even harder. He also has ADHD and Autism. There are a few dysmorphic features we beleive are a sign of this deletion also. He does at times have aggressive behavior, along with head banging and self biting. He is a very early riser, around 5 a.m., it really doesn't matter what time he goes to bed at nigh, he will always be awake long before daylight. There is also the possiblity of small seizures, but that has yet to be proven, so we are not sure as of yet.

chromosome 19

I hope that this blog might be of help to anyone who has a family member with a deletion in any part of Chromosome 19. Our sons specific deletion is with 19p13.2 but I'm sure there can be so many different things going on with this that no two people will have the same things wrong. Deletions within chromosome 19 are very rare, as I'm sure you have had a very hard time finding anything on it at all. I have searched the Internet and have found very few things myself. There are a few sites and organizations that deal with rare chromosome disorders but I have yet to find any that just deal with number 19. I am still searching, it is a never ending search to find anything that will help our son. My hope is that this deletion, that to our knowledge still has no name, will become known and researched for all of our children's sake. The more we know the more we can help our children.