Sunday, January 6, 2013

Genetic Testing

Not sure if anyone else has done this, but we consulted a genetics counselor to find out if there was a reason my oldest has autism.  No one in my family has autism or any diagnosed sensory issues.  We found out that he tested negative for Fragile X but tested positive for having a Chromosome 22 duplication.  So we can affirm that he was born with this and may face other issues in the future (this is not definite, but we will be more aware of what to look for).  A lot of folks have asked if his autism was the result of vaccinations or other nonsense.  I have always stated that I felt he was born the way he his.  And now I know what I have always known, if that makes sense. 

Now his dad and brother were tested to see if they have the duplication.  The duplication was passed to him by his father or mother.  His brother does not have the duplication.  His dad does not have the duplication either.  We were almost positive that it was from him, only because his dad has ADD, dyslexia and some issues with learning - which are some presenting signs of this syndrome.  Well, turns out our assumptions were incorrect.  I have to be tested now even though it's obvious it's from me.

Anyone else out there done this?  Was it a big deal for you to do this?  When we first were looking for direction on what to do with his diagnosis, it was suggested to us to do the genetic counseling and also to see a neurologist to rule out any seizure activity (he does not have any, thank goodness) and to also have therapy (speech, occupational, and behavioral).  We had these recommendations from the local CMH.

We have done what was suggested for us.  We have made great strides and my oldest has come a long way.  This coming up week we are starting behavioral therapy.  I'm excited yet nervous as we are going to push him out of his comfort zone.  I'm hoping they will be able to help him with his anxiety with potty training and sleeping on his own.  Those are two biggies for me personally.

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