To test or not to test?

This may seem a bit odd to people but I still haven’t been tested for Fragile X. It was one of the very first items brought up by the geneticist I met with in the weeks after Monkey was diagnosed but I was not able to think about it at that time. I was too focused on what this news meant for Monkey. I didn’t have the emotional energy to think about what it meant to me.

Since that time I’ve periodically given some thought to being tested but never reach a conclusion. I am vaguely worried about what having the test in my medical records could mean for me. Genetic test results are well protected in Massachusetts and in Maine, the two locations I will likely spend the rest of my life living in, but that is not the case in many, many other states. What if I decide to move to another state? What if that decision is made for me by my career or some other situation I can’t yet anticipate and I move to a state where it is legal to discriminate based on genetic information? What if I move, only to find out that I cannot obtain insurance for myself or my son because of the testing?

Other than that fear, there is a bit of “What does it matter?” involved as well. I am what I am. Is there a reason, beyond curiosity because my insurance won’t pay for that, to establish whether I’m full mutation or carrier?

What do you think?

4 thoughts on “To test or not to test?

  • April 11, 2008 at 1:47 pm
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    I don’t see a purpose in it. You already know you have to be the carrier since your son has it. Men don’t give it to their sons. Knowing if you have the premutation or the full mutation isn’t going to change your life in any way. I wouldn’t waste my time with it.

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  • April 11, 2008 at 7:33 pm
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    I am a fragile x carrier with two children, a boy who doesn’t have it, and a girl who is a carrier. I found out because my dad has FXTAS and my sisters and I were advised to get tested and have our children tested. I didn’t know at the time that I was automatically a carrier as a male automatically passes the x on to daughters and never sons. My daughter’s learning disability was always something that we dealt with while she was in school, she was tested for ADD but not fragile x as that was something they considered more with boys. She had many of the ADD issues without the hyperactivity. The biggest being executive function problems. I know in many ways she has been relieved to find that it was not a matter of her “not trying hard enough” as the teachers always told her. Too bad we didn’t find out she was affected by fragile x till after she was finished with school. They say girls dont have so many problems with it, but I know she really struggled. Any way, the test is pretty expensive and as the person who wrote the previous comment said, you already know you are a carrier because that is how your son got the gene.

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  • April 12, 2008 at 4:32 pm
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    I wasn’t tested until approx. 7 years after Kyle’s diagnosis; this is also when Chelsey was tested. We were going to participate in a Stanford U. study, but Chelsey’s full mutation status prevented us from doing so (I had always assumed that she was either a carrier or not affected at all). We’ve never had Matt tested (he’s 14)—obviously, he has the gene; knowing his number of repeats isn’t important.

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  • April 14, 2008 at 7:28 pm
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    I guess my instinct was right, there is no real point. The medical professionals are the ones who bring it up most often. I guess I’ll just stick with “not yet” as my response.

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