One of these years, Im going to find a rare syndrome... and its going to include Celiac Disease, food allergies, Autism, apraxia, hypotonia, possibly epilepsy, osteopoikilosis, immunodeficiency, susceptibility to autoimmune disorders, small sinus cavities, short stature (especially in the legs), and mildly dysmorphic facial features, including a small nose, ears that are offset from each other, and facial features that are squished slightly toward the center of the face, giving a vaguely younger and childlike appearance to the person. And then Ill finally know what Ive got. Ive ruled out quite a few, including Velocardiofacial Syndrome/22q deletion in its various forms, and the major chromosomal deletion/addition syndromes. Im apparently a fully-functional female, although unable to carry a pregnancy to term, so it rules out a lot of others, although I probably have at least some genetic damage. Ive got a small cadre of 4 people Ive worked with, all still minors, who have the same constellation of symptoms, who look like they could be my children, kind of like how many people with Down Syndrome look related to each other. The other 4 are are all male, which does mean we could potentially have different disorders, but it rather stretches my imagination to think we could have so much in common and different causal diagnoses. Because all of them are minors, it is, of course, impossible to know if they are fully-functional males, and the degree of disability of 3 of them (all with more extreme facial features than my own) means its unlikely they will ever get the chance to demonstrate that functionality with anyone else.
Posted on: Sun, 25 Jan 2015 03:16:23 +0000
Trending Topics
Recently Viewed Topics
© 2015