Stickler Syndrome / Pierre-Robin Stickler Syndrome

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Stickler Syndrome / Pierre-Robin Stickler Syndrome
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    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)

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    Please read this

    Hi everyone, I have been struggling with fibromyalgia for 6 years now. I had these two lovely People who have helped me so much and I can not thank them enough for everything they have done for me more than my own family. I would like to request you all if you have Instagram or know any friends and family please follow these two and share their pagem that's all I can do for them for now as my way of thanks. Please ppl

    www.instagram.com/a4_hom3

    Once again plz my online family you know what's its like to have fibro but it's rare to find ppl who don't judge u & support u. Help me say thank you for believing in my invisbale illness #fibromaylgia #chronicpian #Jointpain #SticklerSyndrome #Insomnia #brainhealth #Introvert #Instagram #Facebook #help

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    My Current Finger Painting

    So happy I found this group! I thought I would share the #fingerpainting I’m currently working on. This is basically the base/planning layer. I was testing color schemes and stuff to see how it may look when I’m done. It’s a really personal piece so I hope it turns out well in the end. I started finger painting about 8 years after finding that’s I couldn’t hold a brush very well anymore due to the degenerative connective tissue disorder I have, Stickler Syndrome. I actually much prefer to paint with my fingers now. Someday when I’m good enough I would like to be able to teach other people, especially those who want to paint but struggle to hold and use paint brushes, how to finger paint. #adaptiveart #fingerpainting #Fibromyalgia #SticklerSyndromePierreRobinSticklerSyndrome

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    Finding Control While Living with Stickler Syndrome

    It’s usually around 2 p.m. on a workday that my eyes get heavy and I make the switch. Command + Option + F5, enable invert display color and the screen goes black. The cursor dances around white letters joining together to make sentences, and paragraphs that bounce off the page like stars in the dark, bringing momentary relief.

    My eyes are tired, and more sensitive since my last surgery. Each morning I’ve noticed the recent layer of debris did not dissipate as I had hoped it would. These floaters stick around, in and out of focus, like scars that are only visible to me. At times I feel threatened by them, and at others, I choose to think of them as gentle reminders of my limits and recoveries.

    Similar to the stories that may accompany the scars on your body, I have one for each floater that superimposes my vision. They act as daily reminders to be a little more careful with myself.

    A medium-sized circular blur, debris, as my doctor calls it, has been left behind from a surgery I had a few years ago after a tear in my right retina. Imagine the way a drop of olive oil floats on top of a body of water. It is mobile, and moves in and out of direct view, but never went away. Staring up at the sky I can see it with precision. It comes and goes with the same relaxed demeanor.

    I got that one a few years ago while moving through a crowd with my friends on a trip abroad in Europe. A man moving in the opposite direction accidentally hit me on the right side of my head. He apologized; I shook it off, and moved on with the day. I don’t remember the worry setting in until the next morning when I woke up and noticed a distinct change in vision from my right eye. Out of fear and hope that it would just go away, I did not say anything. But with time the tear got worse and resulted in two separate sessions of in-office laser surgery.

    I have to be awake for these procedures so I can move my eye as directed. The tech will provide two Tylenol to take as I walk in the room. First, a clear numbing gel is applied to the surface of my eye, the doctor then places a thick lense directly on top of it, before placing my head on the chin rest and asking me to look right, left, up and down, all while the laser is pointed at my dilated pupil. I had always thought I had a high tolerance for pain until my first experience with laser. I feel extreme heat, pressure, pain and my own tears rolling down my face. I remember gritting my teeth to such an extreme my jaw popped in the car ride home. Nobody sees that scar, but I see it everyday.

    I try not to think of myself as fragile, but I would be lying if I said I wasn’t scared. I didn’t tell anyone that I had to get medical clearance to board a plane last year. I was still healing from surgery, and the changes in pressure can potentially interrupt that process. Sometimes I want talk to about it, and at others, I want to pretend it doesn’t exist. I still want to travel, and be able to do things that many others do with excitement, without fear holding me back.

    Lately, I’ve been thinking about when I was younger. During frequent visits to the doctor I would hear the term #SticklerSyndromePierreRobinSticklerSyndrome in passing. ##SticklerSyndromePierreRobinSticklerSyndrome is a genetic, connective tissue disorder with characteristics that vary among patients, but in my case, has resulted in eye abnormalities that make my retinas weak and more prone to tears and/or detachments. I faintly remember overhearing conversations between my doctor and my parents about protective eyewear and warning signs of a detachment while playing in the corner with the other patients. When leaving the office my doctor would recite the same speech. If you see a shower of floaters, bright flashes of light, or dark spots, you need to tell mom, and she’ll bring you in right away.

    Aside from my glasses, there would be no indication that anything was “wrong”, which can make it difficult to describe to people who have never heard of Stickler Syndrome. And because there was such a heavy emphasis on potential retinal complications, I felt entirely underprepared for issues with my eye pressure, which is another possible result of a Stickler Syndrome diagnosis. I’ve had a few episodes now where everything went dark. They were brief, but terrifying. I would describe it as a flash photo being taken about an inch away from your open eye. That flash stuck around for about five minutes, faintly leaving and returning with my pulse. I panicked, and at the time I thought it was my retina that had finally decided to snap. After trials of a few medications, I was able to find something that agreed with my system and brought my eye pressure down to a healthy level. However, this medication also constricts the pupil, letting less light in, making everything generally darker and putting some extra strain on my eyes when I do just about everything.

    I am finding that even with the accessibility aids provided, my eyes are just tired. I am grateful to have some of the best doctors nearby, but when I was told that my vision, now sprinkled with floaters, transposed with cobwebs and a visible heartbeat is my “new normal” I began to grieve. I am trying my best to be grateful for what I still have, but knowing that my situation will never get better than it is now, and most likely only get progressively worse, is heartbreaking. I have made it a daily practice to be gentler with myself as I move through the difficult periods of my life. But, sometimes it feels like the only real control I have, is in simply acknowledging my fear. #RareDisease