Since Maddie has had all kinds of one off issues, we visited a geneticist to rule out any genetic issues, they also scheduled an MRI to determine if her low muscle tone was neuro-muscular. So we scheduled the MRI which indicated delayed milenation. Basically the nerve coverings aren't advanced or where they should be resulting in sparks flying in her brain, so she can't do what she wants to because the signals get crossed.
We scheduled the genetic apt in February and the earliest they could see us was May, Duke was July!! We had to wait about 6 weeks for the genetic results to come in and they showed that Maddie has 2 duplications in chromosome 7. She has a duplication at 7p22.2-7p22.3 and 7q35-the end or qtr. Basically this doesn't mean anything because there are no documented cases of this duplication. So all they can say is she will have low muscle tone and developmental delays which we already know. They don't know the extent or what her limitations will be. The doctors and therapists think she will walk and I do to, but that is all we really have to go on now.
We had to go in the next day to meet with the geneticist who was pretty much worthless, she gave me a pamphlet about 4 cases of a duplication at 7p35-qtr which I already found online. I went and looked up the individuals in that study and they had other issues which I don't think give a good indication of Maddies condition. Also, many of the documented cases I see state mental retardation....probably because they are older cases. I don't like that term and understand how it can be considered offensive. http://www.r-word.org/
Waste of money to go to the geneticist and wish the ped would have just ordered the blood work. You would think they would have some secret database of cases and documentation for genetic doctors only. They gave us 2 genetic support groups (again already found these online) but nothing local. And we have to pay a hospital fee plus the doctor fee, lovely.
At least Maddies neurologist didn't give us any information but said I could talk to a social worker if I wanted too which I did. She didn't tell me anything I didn't already know, we both work so we make too much to qualify for anything which is frustrating that I can't get a dime on a system that I've paid in since I was 15.
Sorry for my rant, this is just frustrating and Maddie is the best baby ever and I want to give her the best we can to maximize her potential. I need to document all of her milestones so that we can track everything to chart her progress.
She's about 5 months delayed in gross and 4 months delay in fine motor.
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