I have an unknown genetic variant on genes COL9A1 (autosomal dominant multiple epiphyseal dysplasia and recessive stickler syndrome) and COL12A1 (affecting myopathic eds, Bethlehem myopathy, and Ullrich congenital muscular dystrophy) i understand if it sounds like interpreting my genetic test results but i wanna lay the other possibilities out, as i’m very confused and want guidance.
i read online it’s the rarest form of EDS discovered and named around 2016 and only 11 people known to have myopathic form. i have several hypermobile markers but surprisingly no facial, retinal, or hearing abnormalities and wonder if that means that it is eds and not the other congenital conditions.
Online it states myopathic eds improves with time, is that with an onset of symptoms at birth, childhood, or adulthood? i struggle with a wide range of connective tissue disorder related symptoms but mostly POTS extreme fatigue weakness and spinal instability, chronic degenerative disc as well. im only 19 and this started at 11 but the last 12 months let alone 4, have me terrified scared and worried every second of the day with the strange symptoms and feeling extremely alone in this battle with numerous specialists saying im fine or it’s psychosomatic.
Does anyone have any ideas or insight about what apparently is super rare form but i have questions about my own strange experiences.
Looking into getting seen at Indiana University Health Center for Ehlers-Danlos Syndromes...