Premutation


Some info about the premutation of Fragile X. 

In order to have the premutation, you have to have less than 200 repeats of the CGG on the FMR1 gene. The normal population has less than 55 repeats. I have 60. I do not have the full mutation but can pass it on, as the number of repeats usually increases every generation. The premutation is not without its own set of issues. Women premutation carriers are at risk of developing primary ovarian insufficiency. I did not have this problem. And elderly PM carriers are at risk for developing a progressive neurodegenrative disease called FXTAS (fragile x associated tremor/ataxia syndrome). 

I’m not sure how I feel about it yet. The reason we had no idea about the mutation was because no one in my family, on either side had any symptoms for either the premutation or full mutation. I’ve joined a Facebook group for female premutation carriers and it’s been very interesting. I’m learning things from these ladies I had no idea I should know. I read the posts and wonder if in 20 years I’ll be faced with these issues. Maybe earlier. I just don’t know. That’s a bit scary. I can’t dwell on it too much. It won’t do me any good. 

Neither J nor A will have these issues because they have the full mutation. Theirs will become a factor if they decide to have children. Although that outcome is rare for boys. That made me sad when I read that. 

I’m not sure what the future holds for me or my kids but whatever it is, I’ll be with them every step of the way. 

One day at a time. And today was a good day. 

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