Hey! I’m Emmylane, and recently got my diagnosis. I’m wondering how to go about getting diagnosed with a specific type of EDS: I’m worried mine is vascular.
You absolutely need to find a geneticist near you, I was diagnosed through what’s called NGS (Next-generation sequencing) it’s essentially just a more time and cost effective way of sequencing genes. I️ do know someone who’s NGS test found no mutations (it’s also possible for the mutation to be on a recessive gene and missed) but they had the symptoms, if that happens and they try and dismiss you ask them to do a CNV (copy number variant.) It’s done on the same sample taken, it’s just a more in-depth way of identifying gene mutations.
Generally with type III it’s diagnosed through a physical examination alone, but it’s always a good idea to be sure, especially if you have some of the more severe symptoms.
Mine is vascular and identified through a physical examination, my insurance will not pay for any gene testings. But vascular isn't that bad, just follow up with a heart doctor regularly. Because you may have symptoms that feel like an actual heart attack, lots of chest pain and you want to make sure of what it is and taking the right medication may help manage those symptoms.
I would definitely look into a geneticist! I have vEDS. It was made official by my genetics test but I was HIGHLY suspected beforehand due to physical symptoms. Especially the translucent skin.
a geneticist is the only way to definitively diagnose a specific subtype of EDS but like. good look getting in to see one lol. I've been on a wait-list for three and half years because there's only one guy in a 100 mile radius and I keep losing insurance
☝ This content is generated by our users and it is not a substitute for professional medical advice. Please consult with your physician before making any medical decision
Thank you! Your submission has been received!
Oops! Something went wrong while submitting the form.
Share
Copy Link
Copied
Join the Alike community
Discover your Alikeness™ with people who are on the same journey, gain wisdom and get emotional relief in a secure & anonymous space.
Emmylane
380d
Hey! I’m Emmylane, and recently got my diagnosis. I’m wondering how to go about getting diagnosed with a specific type of EDS: I’m worried mine is vascular.
1
5
Share
Edema & Anasarca
Chest pain
Ehlers-Danlos Syndrome (EDS)
thistle
380d
0
MaggieQuinn
380d
0
Cory1988
379d
0
abb311
379d
0
wise
379d
0
☝ This content is generated by our users and it is not a substitute for professional medical advice. Please consult with your physician before making any medical decision