Multiple Epiphyseal Dysplasia

Hi, my name is TheMom. I'm here because I feel seen by a strong and intelligent community who understands the challenges of chronic illness and/or pain.

#MightyTogether #Arthritis #MultipleEpiphysealDysplasia #SkeletalDysplasia #meniere'sDisease #ChronicDailyHeadache

I’m sorry to rant, but I feel like I need to get some things off my chest. I know this isn’t exactly an encouraging message- but for many of us…. it’s relatable.

The price of independence is steep. I grieve because I am not who I used to be. I miss the person I used to be before these diseases took over. The physical pain is not what grieves me, it’s all of the emotions that come with accepting the fact that I now have limitations. I long to be able to do the things I used to. I feel like I have been robbed of my independence, self worth, hobbies, and my freedom. I miss being able to do things without being afraid of the consequences. I realize that I don’t look sick, and for that I am grateful. I am not seeking attention. I don’t want to burden my loved ones, but sometimes fighting this battle can be desperately lonely. I am constantly torn between “I can’t let this disease determine my quality of life” and “I must accept the defeat and rest”. I barely remember what it was like to be healthy, it all seems like a distant memory. I grieve what my life could have been. I always wanted to be mother. I grieve the children that I will never be able to carry. I grieve because the reality is that there is currently no cure, and I am only getting worse. I grieve because there is a large possibility that I will never be able to live without pain. The uncertainty within all of the “unknowns” of my life haunts me. I’m not depressed, I am grieving. There is a huge difference, and it is normal. Most days I’m able to hide the fact that I’m devastated by this illness, but today is not one of those days.

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...
(baltimore, MD)

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

#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.

#MultipleEpiphysealDysplasia

#MultipleEpiphysealDysplasia