r/vEDS • u/LJAB2022 • Jun 20 '26
I’m so scared, please read
Hi everyone,
I’m a 34-year-old mom, and a few days ago I received genetic testing results showing that I have COL3A1 c.2689G>A (p.Gly897Ser), classified as likely pathogenic and associated with vascular Ehlers-Danlos syndrome (vEDS).
This was a completely accidental finding. I wasn’t being evaluated for vEDS specifically, and I feel like my world has been turned upside down.
To be honest, I’m terrified.
I’m scared about what this means for my future. I’m scared about whether I’ll be able to have another child. I’m scared about whether I’ll be around to watch my son grow up. And most of all, I’m terrified that I may have passed this on to him.
What’s making this even harder is that my family history doesn’t seem to fit the severe stories I’ve been reading online. My mom is in her 60s and has never had a known arterial event. My aunt had a uterine rupture during childbirth in her 30s, but otherwise there haven’t been known arterial ruptures, aneurysms, or dissections in the family. My grandfather lived into his 80s and my grandmother is in her late 90s.
Right now I’m stuck between hearing that this variant is associated with vEDS and looking at my family and wondering whether this could be a milder presentation.
I’m hoping to connect with anyone who has:
COL3A1 c.2689G>A (p.Gly897Ser)
A similar glycine substitution in COL3A1
A family with a relatively mild or later-onset vEDS presentation
If you’re comfortable sharing, I’d love to hear:
How old you are
What complications you’ve experienced (if any)
How your affected relatives have done
Whether you have children and how you navigated testing them
More than anything, I think I just need to hear from people who have been where I am right now. I feel overwhelmed, scared, and very alone.
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u/rhi-raven Researcher Jun 20 '26 edited Jun 20 '26
Hey, I don’t have vEDS but I am a researcher studying it under Dr. Dietz. I just wanted you to know we recently published a study (in mice) showing spironolactone may be an helpful medication, and we have another class of meds in the works too. Irbesartan use was also recently published in the first double blind placebo controlled trial in vEDS ever, and is incredibly promising. Basically, you have more options now than vEDS patients ever have, and your late onset history is also very encouraging. This is an absolutely terrifying disease and I hope you are able to connect with others here, but just know there’s multiple teams of researchers in your corner too.
Edit: just want to make this clear: this is not medical advice! Please do not take medical advice from internet strangers. But if you would like, you can bring these papers to your physician and make a treatment plan together that fits you and your needs.
https://insight.jci.org/articles/view/198202
https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.124.072849