Behind starburst eyes

Fragile X Syndrome?

on March 20, 2013

This morning N went for his ADOS testing, and by noon today he was officially diagnosed as having ASD. I wasn’t surprised, after all I’d been this route with my oldest son. I’ve watched and seen the signs. But as I sit here tonight, I’m scared, and I’m sad.

I’m scared because I don’t know if I have what it takes to make sure he thrives in life, after all what if C’s successes were just flukes on my part? What if I screw up with N? What if I don’t know how to help him?

I’m sad because the doctor wants to test him for fragile x syndrome. Fragile X Syndrome is a condition in which the X chromosome that was passed from ME to my sons had a codon error that caused to many repeats in a certain part of the X chromosome. This leads to the person’s FMR1 gene either not sending enough signals for the proper amount of a specific protein that is essential in the brain’s neuron development. Or in more severe cases where the pattern is repeated more than 200 times, it turns that part of the gene off completely and prominent physical features as well as definite intellectual impairment occur. I’m sad because only I could have passed this on to my son. A male can only get it from their mother. Apparently according to the CDC 1 in every 269 women is a carrier and doesn’t know it. I might be, and that makes me feel guilty and sad. I know, I should first wait until the tests come back. Even then, it’s not like I knew it was a possibility or anything. I didn’t even know about Fragile X Syndrome until this morning. But logic and emotions rarely see eye to eye.

Fragile X Syndrome scares me because of the seizures associated with it. I’ve seen how difficult it is for a friend of mine to have seizures, not so much the seizures themselves but all the aspects of his life that are affected by his knowledge that one could happen at any time. I’ve also seen the physical pain he endures every time he has one. No parent wants to know their child is going to be in pain, that’s just a natural part of being a parent.

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2 responses to “Fragile X Syndrome?

  1. sandra says:

    I am so glad that you put this up, I have been wanting to know more about the fragile X syndrome A has been diagnosed with it. I did not know where to start to look thank you 🙂

  2. You’re welcome Sandra 🙂 There are some great resources out there that explain it in more detail, a good one is: http://www.fragilexcanada.ca/index.php?id=11,0,0,1,0,0

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