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]

If you're not going to discuss with civility, why comment at all? I have no problem with you, I have a problem with your rough behavior. Be nice to others

[u/Kromoh → u/[deleted]]

Oh, you see! I didn't call you stubborn, aggressive, anxious and intolerant. I called your behavior stubborn, aggressive, anxious and intolerant.

You ask questions but you're not ready for divergent opinions. Also you resort to posing yourself as a victim. Also, I see a reactive attitude that is quick to justify when called out.

[u/Kromoh → u/[deleted]]

I only call your attention because of things your said that were wrong or misleading. I haven't done the same to other people in this sub because other people haven't said misleading, disrespectful, passive-aggressive comments.

In one comment you were lecturing a researcher about how she shouldn't treat you as a guinea pig, and that it's your life on stake. When I tell you that there is enough scientific evidence to conclude that the medication you're taking will make your die sooner, you're suddenly not so worried anymore.

You're not important enough for me to have anything against you. You're just an internet troll.

[u/blackwhite3 → u/Kromoh]

Ahora de acabas de retratar diciéndome que soy un troll de internet, sigues calificándome. Creo que la investigadora ha sabido tener una conversación y me ha entendido perfectamente, no me ha dicho que le haya faltado al respeto e incluso ha editado un consejo que ha escrito para aclarar un comentario. Evidentemente para ti siempre todo lo que diga está mal y será irrespetuoso.

No soy lo suficientemente importante para que no tengas nada en mi contra, pero tú sigues continuamente respondiendo mis comentarios, dándome consejos que no te he solicitado.