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I'm scared. Just sayin... also med ID bracelets?

Aortic Aneurysms | Last Active: Nov 12 10:40pm | Replies (21)

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@hurriedsloth

Thanks so much - very helpful. I love that you shared the pictures too - nice looking necklace! I do have tricuspid, so that is good. I was unaware of that option for genetic testing though. I am going to look into it because I do have hyper mobility syndrome (which is probably why I have early onset OA) - no one has done any formal diagnostic tests to determine anything beyond that though. Thank you so much! Praying for peace for you as well.

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Replies to "Thanks so much - very helpful. I love that you shared the pictures too - nice..."

The genetic panels can be very limited and there are MANY hypermobility syndromes. They will likely only check for the obvious: Marfan, LD, EDS. There are disorders of other types of collagen, like collagen 6, that can cause both your OA, hypermobility, and cardiovascular conditions. I've had the standard aortic aneurysm genetic panel through Invitae. Nothing of major significance there. However, I've had my entire genome sequenced and have learned I do have a lot more going on with collagen 6 and 12. I'm going to ask for the Invitae (since that's what my hospital uses) Comprehensive Neuromuscular Disorders Panel. I know I'll pop "hot" for Type VI Collagenopathies and Limb Girdle Muscular Dystrophy, because I looked up those variants in my existing results. Those results may help with Ortho and the neurologist my cardiovascular surgeon had me go see, too.

But medical practices/hospitals/doctors often have this thing of, "Well, we didn't order that and we use So-and-So." There are some legit reasons for this. You want a CLIA-certified lab for genetic testing, which I had in my original testing. So I'll be ordering some duplicative testing.