I finally got to speak to a new geneticist to find first hand info about Smiley's genetic issues. Sorry if this is difficult to follow, but I will explain as best as I can:
1. There is no other documented case like Smileys.
2. On Chromosome 15, he should have a pair of two chromosomes. One piece of the chromosome was copied twice(4 copies of that piece) and another part was copied once (3 copies instead of 2)
3. The genes affected explain the developmental delays, low weight, small head, and nonverbal. One of these genes is reponsible for Angelman syndrome, so he may have some of the characteristics, but in Angelman, a piece of the chromosome was deleted, his part was triplicated.
4. He beat the odds that he is here with us today. The egg with the chromosomal defect should not have been able to fertilize. bio mom normally would miscarry early on, have a still birth and he would have died the first year of life. It is a miracle that he escaped heart complications and kidney problems normally experienced by similiar children. His lifespan should not be significantly shortened.
5. I asked him what to expect developmentally and there are no positive answers obviously, but asked what I should expect based on similar cases: He will need to be cared for the rest of his life. He will probably have severe/profound mental retardation. He should walk but probably will not potty train or talk/communicate. He will probably always be a baby/toddler.
He was a wonderful doctor, very positive. I had to kinda pry to get more realistic information. I'm not ashamed, but I want a realistic picture of what to expect. I need to plan for the future since it is likely he will outlive us. I have to figure out who will care for them when we are no longer around.
The doctor asked how I was taking in the news. I told him it wasn't a lot I hadn't expected, but good to know what was causing his problems and what to realistically expect.