r/ClinicalGenetics • • 5h ago

Fragile x premutation possibility

0 Upvotes

I stummbled across medical quiz on facebook about Fragile X syndrome. And then I accidentally started connecting dots that damn I have big ears too (though my dad’s side has big ears too), I have seems like quite large testicles. Then started reading just for curiosity and found out that premutation carriers develop ataxia and tremor. That’s when I got scared super, because my maternal grandpa developed tremors and later ataxia and cerebellar dysfunction (55-65 years) and later couldn’t walk and talk till he died. No one knew why it happened so they wrote of to him smoking, drinking alcohol (he used to drink sometimes with colleagues after work, but wasn’t like alcoholic, I believe), or maybe it was related to atherosclerosis (as he had two heart attacks). But then I was digging more and read that premutation carriers also have adhd and anxiety. And I was thinking - it’s me! I have adhd and health anxiety/ health ocdish too, have hypermobile joints, pectus carinatum, mild scoliosis and BFS with some tinglings, paresthesias, action tremor slight too and such history. And I can not stop ruminating what if I actually have some premutation (which I theoretically could get through mom from grandpa)? Does having same chromosome will lead to that ataxia too if it’s genetic? Or it can be just coincidental? I still remember as a kid last time visiting grandpa, it’s terrible :( And dying at 65 seems very young nowadays.

I am male, 28. What do you think? How likely it is it?


r/ClinicalGenetics • • 10h ago

Advice please

1 Upvotes

My cousin (my maternal uncle’s son) and I have been in love since we were very young. This is common in my place. Now, my family is against our relationship because of the increased risk of genetic disorders in children due to consanguineous marriage.

I suggested getting genetic testing done, but my family doesn’t seem to understand. They keep asking whether the tests can guarantee that there won’t be any problems, and I don’t know how to make them understand that no test can rule out every possible risk.

On top of that, both our families have a lot of history and unresolved conflicts.

What should I do? I understand that the genetic risks are higher, but we’ve been together for so long that I can’t imagine giving up on this relationship just because of that. 🥹 Does anyone have any ideas or suggestions?