A friend of mine's nephew was just diagnosed with a mild form of this disease and I wondered if anyone could supply the following information:
I wondered why the fact that his cerebellum was not developed didn't show up on any sonograms - does this reflect at all on the mother's prenatal care?
Also, what kind of prognosis is there for these children long term? He was diagnosed with a very mild case. thankfully, and has shown improvement in his motor skills with therapy.
Lastly - the docs told the baby's parents that they did not pass this on to him. But on websites I've read that the disease is genetic and that the parents are both carriers. This is the child of my best friend's brother and sister in law. Should my best friend be concerned now, also, that she may have the gene that causes this? She's now terrified of starting a family, and I'd like to be able to give her an inkling either way, from people in the situation who would know, as to whether those fears are valid?
Any information that could be supplied would be greatly appreciated.
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