Tuesday, January 27, 2009

Fragile x???? April 20, 2008

After spending the weekend trying to decipher what actual blood test Dr. Bauer wants done, I've concluded it's a Fragile X test on Matthew. The nurse left me a voicemail about it and she said it so fast I was having a hard time understanding it.
I don't know much about it. I actually tried to get the lab drawn today at the acute care clinic and apparently you can only do that Mon-Thurs as it is a room temperature sample that expires in 48 hours.
Hmm... so I guess after I get off work tomorrow that is what we'll be doing.
So anyway, I did my usual search on Yahoo! to find out what this is.... this Fragile X sydrome. Apparently it's a mutation in the X chromosome. Hmm... on one hand it could lead to the mental retardation and on the other hand it is a leading cause of Autism. Imagine that.
Makes sense I guess. http://www.fragilex.org/html/autism_and_fragile_x_syndrome.htm
http://www.fragilex.org/html/autism.htm
Well those are the sites I've found a little information about this on.
What exactly is Fragile x?
fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
Hmm.... so I'm very curious to find out the lab results of this test. Makes me wonder if Matthew has this Fragile X thing... who knows. But I'll keep ya posted when I find out, hopefully by the end of this week. At least Dr. Bauer's on a good path with Matt, I think I won't be taking him to the Hartford clinic when it comes to anything like this anymore.... they never really thought he had anything wrong with him.

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