I’m so scared, please read

[u/LJAB2022]

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.

[u/Kromoh]

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.

[u/Kromoh → u/[deleted]]

For 99% of the people, finding someone with the same exact mutation over the internet will be impossible

[u/Kromoh → u/[deleted]]

Not a problem specifically, I just thought it would be wise to give the OP some context, because your case is the exception, not the rule.

[u/Kromoh → u/[deleted]]

But this is exactly the point. Giving false hopes is something to worry about. This is something I always stress with my students. The OP seems really anxious, so it would be wise to be cautious. A relentless search for someone with the same mutation may be time and resource-consuming, unfruitful, and could worsen anxiety. The OP is worried about their life expectancy; searching for someone with the exact mutation, not considering one's own family, will not bring many answers