Hacker News new | past | comments | ask | show | jobs | submit
nextos | on: I was recently diagnosed with anti-NMDA receptor encephalitis
What treatment did your wife receive? Did she improve?

Did doctors confirm Ehlers Danlos with genome sequencing?

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