Genetic testing-FRUSTRATED!

September 30, 2009

I don't really have a question, just an update. My 3.5yo son, Larsyn, diagnosed

w/ severe verbal and oral apraxia, dyspraxia, hypotonia, sensory processing

dysfunction and dysmorphic facial features finally had a microarray analysis

done. It was done at Signature Genomic Labs in Washington (we live in

California)---who apparently have the newest version. It came back NEGATIVE! His

geneticist, metabolic geneticist and neurologist strongly believe he has a

chromosomal abnormality, which in turn is causing the neuro issues.

I am really shocked at the results. Plus a little mad because the test is $2400

and was done out of network....it is going to cost us some serious $$$$. I am

mad at myself because we could really use that money for his therapies. My hubby

didn't really want to run the test. He said " what is it going to change? All of

his therapies will be the same. You can't do anything about the results " . I

finally felt like I was going to have some answers.

Besides an MRI, we have done all other mainstream testing. EEG, Echocardiogram,

metabolic testing, other genetic testing, basic labs. He has been examined by 2

neurologists, 2 developmental peds, metabolic geneticist, pediatric

ophthalmologist, psychologist, audiologist and multiple PTs, OTs, SLPs and

feeding therapists.

Now I am not sure what else to do, if anything???

On a very exciting note, he said MaMa for the FIRST time last night. It is the

first two syllable " word " he has ever said! I keep telling myself that should

make up for everything else :-)

Thanks for reading.....

Jenna Weil (mom to Larsyn and Chance)

Orange County, CA

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