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nextos 9 days ago

What treatment did your wife receive? Did she improve?

Did doctors confirm Ehlers Danlos with genome sequencing?

randerson 9 days ago | parent [-]

90% of EDS sufferers have the Hypermobile variant, for which there is no genetic test. At least thats what I was told by an EDS specialist a few years ago.

nextos 9 days ago | parent [-]

Yes. However, there are some polygenic risk scores for EDS. While not approved for clinical practice, they can serve as guidance.