A surprising? not surprising? update to my previous post asking if it's possible to have Marfans without many of the physical markers ❤️
I wanted to share an update to my previous post, found here: https://www.reddit.com/r/marfans/s/rU2e7NnVuC
37F - tl;dr is that family on my dad's side recently discovered they have Marfans, after confirmed genetic testing following several aortic dissection incidents (including several deaths). It was suspected my dad also had it, so they reached out to me to let me know, and encouraged me to get tested.
I posted here because I wasn't sure if it was likely or even possible, since I don't have many of the Marfans physical features. I received many comments from this wonderful, kind community also strongly encouraging me to get tested!
Well, it turns out - I do have it. My doctor referred me to both a cardiologist for an echo & a geneticist. My echo, thankfully, looked good and my aorta are very healthy/a normal size. But the genetic test results just came back today, and it was confirmed that I have the same pathogenic FBN1 variant as my other family members.
I do feel like this explains so much, including possibly my chronic migraines. I've had several months to sit with the possibility of having Marfans, and intuitively, just felt/believed that I probably did have it. Receiving the results today, I didn't feel surprised, scared, or sad, like I initially thought I would. I just feel grateful to *know.* Knowledge is power, and knowing I have it will allow me to monitor my heart and health over the years and take preventive action, as needed.
When delivering the results to me, my geneticist told me that Marfans has a beautiful, supportive, and active international community. That was really encouraging to hear; I feel like I've experienced a bit of that already through this subreddit. Thank you so much to everyone who commented on my previous post and motivated me to pursue testing! You've genuinely made a difference in my life. ❤️
Anyhow, I thought sharing this update might possibly encourage others who are in a similar boat to pursue testing too. Thank you, and please take care of yourselves. 💕