Wednesday, October 31, 2012

Fragile X Syndrome

I'll get right to the point, rather than summing up our day first. We got more of Mr N's test results back today, namely his Fragile X test and a couple of others. After receiving the results and reading through them, I had to fight back tears, the wording was not clear at all. I was 80% certain that the Fragile X test was positive, but not all aspects of it were. I immediately called the doctor's office to have them interpret the results for me. I could not bear not being certain one way or another. The nurse that took the message said his doctor was out of the office for the day and that she would have a nurse call back Thursday or Friday to explain the results.

The agonizing stress over a one to two day wait was quickly over when a nurse called back five minutes later to say the test results were all normal. What a relief! I cried anyways, but these were happy tears. My little boy does not have Fragile X Syndrome, the only tests that came back abnormal is thyroid and his blood count. I'm quite certain I can handle hyperthyroidism and anemia, they seem quite like a walk in the park compared to some of the other possibilities that they tested.

To summarize....tests normal, mommy happy. Are there words that can really express my utter excitement, relief, and happiness at this news? Not likely. I can't even begin to describe how elated I am at this very moment.

While I realize the chances of him having Fragile X Syndrome were statistically quite low, I couldn't help but be worried. He does have several symptoms that cause reason for concern, but apparently those are just coincidental or related to the autism. In any event, I'm quite relieved.

2 comments:

  1. So much stress! My heart goes out to you and your little man and your entire family. Thank goodness the results were normal!

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  2. Holy crap! You had me crapping my pants with that title. That's what I get for falling behind on your blog. I share in your relief! I can't even imagine the stress you've been under. You're an amazing woman and mother.

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