The official diagnosis for Jacob is a small deletion on Chromosome 17q....there is a more specific name for the location of that deletion, but I don't want to look it up right now so I will post it later! We don't really know how this deletion will affect Jacob in the long run but here are some of the characteristics he exhibits so far: Small head (microcephaly), developmental delays, broad nasal bridge, ear pits, epicanthial folds of the eyes, almond shaped eyes, difficulty swallowing, poor weight gain, and I think that is it so far. He also has very blonde, coarse hair that grows extremely fast but I'm not sure if that is part of his chromosome abnormality or not.
He is 15 months old almost exactly and has within the last few months learned to sit well independently. He doesn't crawl, walk, eat or interact like a typical 15 month old. We compare him to about the level of a 7 or 8 month old right now. He is currently in the Infant Toddler program and a PT comes to our house to work with him as well as an eating specialist. Lately, I have not been happy with those services so I am going to look into getting him some therapies at Children's Mercy as well as some water therapy.
It has been an extremely long road getting to this point and diagnosis so next time I post I will give a little more background into how we got to this particular diagnosis...
