Ok well I was just making a list on what my son has more of characteristic wise. He has the facial features of having the Kleefstra syndrome and he has most of the signs and I had spoke to a mother that she told me the same thing, tat my son and her son have te same similarities. Then I have spoken to three other people and they told me that in the beginning that there kids were going to get tested for angelmans and one was negative and the other two they decided not to because they found what they had. Now I took notes on the angelmans and he has all of the signs and features of it except for one and that is the heart problem. His heart is fine.
I have emailed my sons first genetics dr and he tells me your son doesn't have the kleefstra because he doesn't have the long narrow face and the eyebrows connected to each other. Then I had an appt with my sns dr and I stood there for two hours and he tells me that the angelman he does have some similarities of having it but not all of it. So I don't think he has it. But I did my research and I can show anyone who does ask me if my son has nearly all of the signs.
What I know is that dr' don't like it when the parents know more then them and that i'm doing the research. If he isn't doing anything about my son then why are you still his dr? I have decided that I'm going to see another genetics dr in St Petersburg next month. I have had it been through this for nearly three years and nothing yet. He tells me that my son is a mystery case. He knows it is a syndrome but he doesn't know what kind. He is only affilated with the autistic kids and the angelmans. But he still doesn't know. Here is his info. My sons first genetics dr.
what is underneath is pat of an email that we both wre going back and forth to, but this is what he said for the last part of the email about having angelmans.
I know a lot about Angelman and happen to be a world authority on this syndrome. He has too many other findings that are not part of this condition such as his facial changes, contracted thumbs and abnormal toenails and other features. He does have some Angelman traits but not enough to strongly suspect the diagnosis.
Charles Williams, MD, Professor
Division of Genetics and Metabolism
Department of Pediatrics, Univ. of Florida
Chair, Angelman Syndrome Foundation Scientific Advisory Committee
Office: (352) 294-5050, Fax: 352-392-3051