Multiple Epiphyseal Dysplasia

Join the Conversation on
Multiple Epiphyseal Dysplasia
34 people
0 stories
5 posts
  • About Multiple Epiphyseal Dysplasia
  • Note: The hashtags you follow are publicly viewable on your profile; you can change this at any time.
  • Explore Our Newsletters
  • What's New in Multiple Epiphyseal Dysplasia
    All
    Stories
    Posts
    Videos
    Latest
    Trending
    Post

    Myopathic Eds?

    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 www.ehlers-danlos.com/eds-center-for-research-clinical-care
    (baltimore, MD)

    Question

    Treatment


    Is there anyone who has had any luck with a doctor and/or treatment? No doctor will touch this disease. They won't even look it up. I don't care what state I have to go to. I really need help. #MultipleEpiphysealDysplasia

    Question

    I am in great need of a doctor that knows what MED is!


    #MultipleEpiphysealDysplasia I have been rapidly declining after having a hysterectomy. I am 37 and have to use a cane to walk. I have hit a point of desperation to find a doctor anywhere to help me. I can't take this pain anymore. I need a solution or some type of long term help. If anyone can point me in the right direction I would be eternally grateful.

    Question

    I need help finding a doctor that knows what MED is. I don't care where they are. I desperately need a doctor.


    #MultipleEpiphysealDysplasia

    Question

    I live in mid missouri and have had no luck finding anyone who knows or has MED. my family on my biological mother's side has it but that's it. Help


    #MultipleEpiphysealDysplasia