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Conversation

I recently tested negative for a serious genetic disease that - for years - I'd thought I probably had. I'm pretty stoked, and also surprised by mental changes I didn't expect: I'm suddenly way more interested in diet, exercise, and having kids.

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@karlbykarlsmith

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Huntingtons?

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@karlbykarlsmith

No, Loeys-Dietz.

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@karlbykarlsmith

Who the f*ck diagnosed you this without any symptoms?

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@karlbykarlsmith

I wasn't officially diagnosed; my mom has it so I have a base 50/50 rate, and I have some of the physical diagnostic criteria. I also look a lot more (in loeys-deitz-relevant ways) to my sister who does have it, and less like my sister who doesn't have it.

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@karlbykarlsmith

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I think I mightnbe able to see it. I used to argue that Marfan syndrome was tbe source of Elvin myths. . But are the two diseases related? Totally, different mutation, no?

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We thought my mom had Marfans for a long time until Loeys-Dietz became a thing. The markers I have that made us think I had it were stuff like long limbed, pretty flexible, soft/translucent skin.

5:48 AM · Aug 20, 2019

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@karlbykarlsmith

That's why an apple a day is not enough 🤣