Genetic Test Results

I got the call from Genetics this morning.  Nathan’s chromosome test and Fragile X test came back normal.

I have to say, I am a bit surprised because I really thought FX might better explain my little mystery man.  So, at this point we are left with Autism/PDD-NOS as a diagnosis.

The one thing I have learned through the last 6 months (less 4 days!) is that Fragile X does not get the attention it needs.  Parents need to know that it might be a possibility.  A genetics test should be ordered for EVERY child who has a developmental delay or a diagnosis of autism.  I live in Canada, where we get these tests at no charge, so I guess that is ‘easy for me to say’.  However, I want to continue to push for Fragile X awareness, to try to give back to the community that has given me so much strength and support over one of the more difficult times in our lives.

So, don’t be surprised to see little reminders, news reports and other tidbits on Fragile X on this blog.  If you are looking for really relevant, good information, please visit Beth over at http://fragilex.wordpress.com  I love her blog & she was one of my first blog readers, so her family has a special place in my heart.

Remember too, 30% of kids with Fragile X have a dual diagnosis of autism.  I think these conditions are linked, it’s just going to take the geneticists time to find it.

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2 thoughts on “Genetic Test Results

  1. It’s about time someone has said something about an alternative diagnoises. My son age 8 was diagnoised 5 years ago with autism and my 2nd son age 4 was just diagnoised, His neurologist finally mentioned about fragile x and thought maybe we should test for it. When I mentioned fragile x years ago I was told he did’nt fit the criteria he is so high functioning. I feel like I know more than the the doctors about this disorder, as in autism everyone is differant. Thank you for bring this to light!
    Carolyn A

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