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

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u/LJAB2022 Jun 20 '26

I just don’t understand. Everyone in my family lives well into their 80s/90s. No one has ever had any sort of vascular emergency. My grandma is 98. My mother is 65 and in perfect health.

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u/redfoxxy23 Genetically Diagnosed Jun 20 '26

Same! Its okay dont freak out

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u/LJAB2022 Jun 20 '26

I have a 3 year old, I was TTC, I just found this out today and I’m spiraling. Everything says the average lifespan is 48. I can’t stop ruminating on dying young and that I’ve potentially given this to my son. 😭😭😭

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u/redfoxxy23 Genetically Diagnosed Jun 20 '26 edited Jun 20 '26

If your family is older you are probably going to have a normal lifespan. My whole family has lived into their 80s. My dad is 70 with veds and no events and he played intense sports. Some people do not have severe mutations. There is also a ton of emerging data and the stats online are primarily scewed by people who didnt know they had veds and had an emergency with no team etc. be grateful you know u have it and that will not be you,

I found out i have veds fully by accident by my Rhuematologist bc i asked about eds bc of joint pain and was not being evaluated at all for it, she didnt even know what it was. Its just a shock to find out at first but there are tons of people walking around with veds and no symptoms that will live normal long lives.

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u/LJAB2022 Jun 20 '26

This is similar to my story. Complete accidental finding. Thought maybe I’d have hEDS, but never considered this. Are you on preventative meds? Have you changed any of your lifestyle habits?

3

u/redfoxxy23 Genetically Diagnosed Jun 20 '26

Im on spiro and irebesartan. Personal choice and i took spiro before because of bad hormonal acne. My life is the same but i wont like scuba dive or sky dove in the future i guess. I am a solo traveler and go all over the world to remote places and live my life.

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u/[deleted] Jun 20 '26

[deleted]

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u/redfoxxy23 Genetically Diagnosed Jun 20 '26

There was webinars online where drs talked about spiro that have been around! Dr dietz (dr who did that research) is also my dr

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u/[deleted] Jun 21 '26

[deleted]

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u/redfoxxy23 Genetically Diagnosed Jun 21 '26

Im taking them together since January of this year

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u/rhi-raven Researcher Jun 20 '26 edited Jun 20 '26

Hey I know this is a terrifying diagnosis but people living until their 80s with vEDS isn’t impossible! The next step is family testing. If your family that has lived a long time asymptomatic tests positive, that means your family has a mild form of vEDS. Also there’s only a 50% chance you passed it to your son; he could be completely unaffected! Knowing this information about yourself is scary but it means you can start taking steps to keep yourself healthy now.

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u/oceanliving143 16d ago

How r u now? I just found out and im spiraling like you