Found out I have Arthrochalasia Ehlers Danlos via sequencing.com
Arthrochalasia Ehlers-Danlos syndrome (aEDS) is
an ultra-rare, inherited connective tissue disorder (<1 in 1 million) caused by COL1A1 or COL1A2 gene mutations.
I f38 have the COL1A1 gene mutation, per my genetic testing that was just completed 2/2026. I was finally diagnosed with EDS last December. However my doctor thought it was the hypermobile type as I check all those boxes, plus scoliosis and bilateral hip dislocations like it’s nothing explains so much!
Of course it would be the most rare type, apparently only 43 known case studies. So if anyone knows of any doctors doing legit research I would be quite interested in being studied. I have a lot of health issues POTS, psoriatic arthritis and possibly atypical cystic fibrosis(genetic testing CFTR mutation present w/sinus disease, nasal polyp and other symptoms). Still on my journey to the discovery of what all is ailing me. Wish you all the best in your journey’s as well.
Posted Mar 1, 2026, 1:43 AM UTC