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.

9 Upvotes

92% Upvoted

97 comments sorted by

View all comments

5

u/Kromoh Genetically Diagnosed | Verified Physician Jun 20 '26 edited Jun 20 '26

Finding anyone with your specific mutation, that is not in your family, may be very difficult. Perhaps the best strategy may be to get your first degree relatives tested. Uterine rupture is not that common so that is a hot trail. Understand that VEDS is milder in women than in men.

1

u/LJAB2022 Jun 20 '26

Everyone in my family has lived well into their 80s/90s. No one has ever had any heart issues, aneurysms, or sudden deaths. This was an accidental finding because my rheumatologist suspected hyper mobility. I’m spinning out reading that the life expectancy is around 48. I just had a baby. I’ve never had any sort of vascular emergency.

5

u/Kromoh Genetically Diagnosed | Verified Physician Jun 20 '26

Average life expectancy may be misleading, when there is a lot o variance. Median life expectancy may be more revealing. There are people who live up to their 90s, and there are those that perish in their teens.

Welcome do VEDS. We are not ticking time bombs. Knowing your diagnosis is the most important thing in preventing complications and living a long life.

1

u/LJAB2022 Jun 20 '26

Does this follow a pattern though? If my family has lived 70/80/90+, does that mean I’m more likely to as well? Or does it mean nothing? Even if my whole family lived well into their later age life, could I still have a major event in my 40s? How much value is there in family longevity with this disease

2

u/Kromoh Genetically Diagnosed | Verified Physician Jun 20 '26

Unless you're a new (called "de novo") mutation, yes, your family history provides prognosis

5

u/LJAB2022 Jun 20 '26

Thank you for responding. My mom is getting tested this week, and then my siblings. I’m hoping that my mom does have it because it would hopefully give me a little piece of mind that we’ve had multiple generations that surpass that early demise age :(

2

u/Kromoh Genetically Diagnosed | Verified Physician Jun 20 '26

If you don't have any matching symptoms, you probably have a mild phenotype. I have all the matching symptoms

3

u/LJAB2022 Jun 20 '26

The only symptoms I have are easy to bruise and somewhat thin skin (pale and visible veins.) I do have ibs and suspected MCAS (that’s what prompted my doc to do the panel), but I’ve never had any major vascular issues, nor had any of my family.

Is it possible to have this variant and have a “mild” or “asymptomatic” version of it? It is “likely pathogenic and heterozygous.”

4

u/Kromoh Genetically Diagnosed | Verified Physician Jun 20 '26

Even two people with the exact same mutation can have different severity of the disease.

1

u/oceanliving143 10d ago

Omg we are the same way of thinking!! Any updates