We saw the geneticist on Friday. Now he wants to do testing for Noonan's (again as they lost the results from the first one, ugh) I personally do not think my son fits this diagnosis besides they had called and told me the last one was neg. He is going to do the FISH test for Angelman's Syndrome. I do believe my son has AS he fits the clinical criteria 95% but he is high functioning so I don't think a small deletion will show on the FISH and think a Micro-array would be a better test to do but he doesn't think ins. will pay for it in the abscence of mental retardation. The other is Myotonic Dystophy, I hope it is not the case as it is progressive but I feel he does not have this. It is so frustrating, I told the doctor that I know getting a diagnosis won't change anything and he interupted me and said " It is possible there may be breakthroughs with treatments or cures so it is best to get a diagnosis" I just hate putting my little guy thru more tests. But it would be nice to role all his diagnosis into one. Also my Mom has Renaulds, he stated he thinks I do as well and that could be the cause of Seoc's over heating problem. I am just overwhelmed and frustrated.

You can ask him to request all the test you want and have only one blood draw...they can take out enough for all the test...just make sure you give a good breakfast, if you don't need to be fasting...or pack a really good snack or after the blood draw...they took out 10cc from Julian and didn't need another drop.

The doctor phoned the lab and they couldn't find it. So I told the doctor the exact day the blood was drawn, good thing I keep good reconds. They found the draw but not the results. Then the doctor called and said they had located it and that the lab had done the wrong test not the one he had requested so I don't know what to believe.

Let us know how it goes...Julian has had genetic panels done twice and they both came back Normal...you can call the lab and tell them the lab tests were miss placed so they can send a copy...the lab keeps their own records...I pray you find the answers you need soon.