Vascular Ehlers-Danlos Syndrome (vEDS) is caused by a mutation on a gene called COL3A1. Though there are other signs that can point to vEDS, getting tested for a COL3A1 mutation is recommended to confirm your diagnosis. This might help you and your doctors make more informed medical decisions. Below, hear from patients on their experiences with genetic testing.
Getting the test
You need to advocate for yourself and your child. I don’t care if you sound like you’re ridiculous. Even if you sound like you’re doctor shopping, you fight until you get that test. It’s so easy these days. You get a doctor, any doctor, to run your panel. If you think you have vEDS, get the test done. It’s either a simple yes or no. It’s so black and white. So advocate and fight for that.
Taking the test
A few months after my uncle was diagnosed with vEDS, my mother and I got tested. They just sent us a kit, we got our blood drawn at the doctor’s office, and they sent it back for testing.
Talking to your family
After I was diagnosed, it took a long time for my mom to get tested. I was very anxious about her results considering she has four sisters and a brother, and one of my cousins was pregnant at the time. I don’t think she realized how her results could impact our whole family. Eventually, she got the test. It came back negative. So did my dad’s. That meant I didn’t inherit my vEDS.Start the conversation with your family with our helpful discussion guide