Maggie has a lot of doctors that she has gone through. She had a audiologist, a cardiologist, a neurologist and a geneticist. Thankfully, her audiologist and her cardiologist cleared her of any of those problems, but she still has the other two.
However it is good she does. She has also been given every blood test under the sun. Last time she went for one though, they found something. So far they are saying that it is accountable for what she has.
The packet the geneticist gave me reads like stereo instructions and is very scientific, but basically says she has a slight duplicate of chromosome number 1 in her DNA strand. It gets really technical, but it boils down to exhibited behaviors for this type of disorder are developmental delays, autistic spectrum symptoms, speech delays and larger heads. Except for the larger head (hers is average) she has all the other behaviors.
The good news is that now we have a diagnosis. The bad news is that the study into this type of disorder is so new that Maggie is actually a part of it now. The geneticist was telling me that the scientific community has just started looking into the genetics of this type of disorder and there is no real example of a sample case. So, as we treat her, we have to treat the symptoms, not the cause.
I am glad she is in the study now. Apparently it may be genetic for Robert has the same thing. They want to test Bart, Lisa and Austin as well. It is known that some people may just be carriers of the copied chromosomes and not exhibit any behaviors associated with the disorder.
I wait to see what they say about my other kids. I will keep everyone posted. I signed release forms and in any future release of information on the study, Maggie will be included.
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