Stickler Syndrome / Pierre-Robin Stickler Syndrome

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Stickler Syndrome / Pierre-Robin Stickler Syndrome
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    Community Voices

    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
    (baltimore, MD)

    Mel Hebert

    6 Hidden Obstacles People With Rare Diseases Face

    As someone who has a rare disease that almost no one I talk to has heard of, I can attest that there are a lot of factors to having a rare disease that most people don’t think about. I have Stickler syndrome, which is a hereditary condition that affects connective tissues and often comes with severe near-sightedness, potential hearing loss, unique facial features and a lot of joint problems, beginning at a young age. Roughly 1 in 10,000 people in the U.S. have Stickler syndrome and fewer than 20,000 new cases are diagnosed per year. But I’m not here to complain about my condition or inform people what it really is, although some of the following points I’ll make may do so. I’m here to tell you the obstacles that come with having a diagnosis almost no one has ever heard of. 1) Having to be the one to explain your rare disease to your doctor. This one is the biggest obstacle by far — especially when I was younger. It made me terrified to go to doctor’s appointments alone because my mom was an expert at explaining it while I had no idea what things like “severe myopia” or “connective tissues” were. So, I had to stick to a script until I got older. At 16 when doctors asked, I would simply explain, “It’s a group of connective tissue disorders that comes with really bad vision and joint problems.” Did I know what connective tissues were at the time? No. I had no idea. But unfortunately, most medical professionals have no idea what Stickler syndrome is, so it becomes up to the patient to inform them. 2) Worrying that others (including medical professionals) will think you’re making excuses for yourself, despite knowing your symptoms are real. I work in a job that requires us to be trained in safety protocols for crisis management and at the beginning of every training, I always have to anxiously tell the instructor that I have arthritis in my knee and can’t kneel down repetitively to practice safety holds. It also comes up when I go to the doctor and need to explain my joint pain, along with my illness (again). Whenever I have to disclose this information, it’s hard not to be anxious over what other people think of me. I’ve had doctors tell me it’s because of my weight or that I just need to do yoga, drink more water, or eat healthier. However, I’ve had severe joint pain since I was 20 years old and much lighter in weight, so while those things may help, they’re not going to make my joint pain go away. That’s a large part of why explaining these symptoms to people at such a young age makes me self-conscious. Because I’m not faking it. My joint issues are very real. However, I also know that most people around me may doubt that due to my youthfulness. 3) Bullying over features of my appearance that are due to my condition. Due to the fact that Stickler syndrome is an extremely rare disease and an invisible illness, most people who look at me wouldn’t know I have it. However, because of that, it caused a lot of unwarranted comments about my appearance. For example, I have a pretty bad underbite that I’ll eventually need surgery to fix. I can’t tell you how many kids asked, “Why does your mouth look like that? Why is your bottom lip so big?” Let’s just say, enough people asked questions about it to make me self-conscious to the point where I don’t know how to relax my jaw anymore. I subconsciously make sure my lips are lined up at all times because, to this day, I’m still extremely self-conscious about my appearance. 4) The constant “Are you OK?”s I can’t tell you how often people ask me if I’m OK just for existing. As I said, people who look at me don’t know I have Stickler syndrome, so it creates a lot of instances of, “Are you OK?” Whether it’s due to my extremely heavy breathing, constant cracking of my joints when I move or being unable to hear certain things that most other people can hear, I get asked the question a lot. I’m fine. I just have this super rare condition that no one has ever heard of. But instead of explaining all that, I simply stick with, “Yeah. I’m just a heavy breather,” or, “Yeah. I just have loose joints.” If only they knew… 5) Silently dealing with the symptoms no one knows about. There are some things I need to deal with that most people in my life have no idea about, just because I present as “normal.” For example, while others at my work can wear their glasses, I need to wear contacts every day because if my glasses get knocked off during a crisis situation, it would put everyone in danger. If it means anything to you, I have a -12.50 prescription, which basically just means that my vision is extremely near-sighted. If I want to see something clearly without glasses on, it needs to be a few inches away from my face. If my glasses were to be knocked off during a crisis situation, I wouldn’t be able to participate in crisis management and my glasses would likely break from me stepping on them due to me being unable to see them since they would not be right in front of me. So, even though I would very much prefer to wear glasses at work, it’s not really an option. 6) The isolation that comes with being the only one you’ve met to have your rare disease. While I follow chronic illness groups on The Mighty, I’ve never read an article about Stickler syndrome. In fact, I’ve never even met someone who also has Stickler syndrome outside my immediate family. This can be a pretty isolating experience and it can make it feel like I’m the only one who deals with the symptoms I deal with. It can make me feel like I don’t quite fit in anywhere, too. My illness is chronic, but people in the chronic illness community have never heard of it, so it often feels like they won’t really care about what I have to say. Additionally, I look like a normal person since Stickler syndrome is an invisible illness, but I don’t quite fit in with “normal” people my age either. I can’t go on long hikes, nor can I jog or go for a run without being in extreme pain the next day. And let me make it clear: I don’t want special treatment for my rare disease. I don’t want sympathy or “Wow, that sounds so hard…” I’m a normal person who can do most normal things. I just have a lot more obstacles than the average person does. So, to others dealing with a rare disease of their own, know that I see you. I feel your frustrations and you’re not alone — even though it might feel like it sometimes. We’re in this together — hidden obstacles in all. Take care of yourself out there.

    Community Voices
    Community Voices
    Community Voices

    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

    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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    Community Voices

    My Current Finger Painting

    <p>My Current Finger Painting</p>
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    Community Voices
    Community Voices

    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

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    Mary Fournier

    My Life With Stickler Syndrome and Pierre-Robin Sequence

    Most people have never heard of it, but for my brother and I, it’s what has shaped a good portion of our lives. We were both born with Stickler syndrome, and along with it came Pierre-Robin sequence. Simply put, Stickler is a hereditary condition that causes ear, eye, and joint problems, as well as gives a distinctive, often flat, facial appearance. Pierre-Robin is not a syndrome, but a set of abnormalities that include a small jaw, breathing problems, glossoptosis, and often a cleft palette at birth. Stickler and Pierre-Robin often come hand in hand. Life with Stickler and Pierre-Robin meant and still means: health issues. Lots of them. I’ve had over 20 surgeries, all involving ears, eyes, or my mouth. My brother and I have a running contest of who’s had the most surgeries. He’s currently winning. Stickler and Pierre-Robin affect everyone differently. For me, it’s mostly affected my ears and eyes. I have horrible eyesight and have had multiple procedures to correct tears and holes in my retinas. My eustachian tubes do not function well, my eardrums frequently do not work properly, I get chronic ear infections, and I have a permanent hearing loss. I’ve also grown up with many ankle problems from spraining them so frequently. On the bright side, I’m extremely flexible and have always been able to do the splits. It isn’t always easy having this condition. It means never knowing how I’m going to feel when I wake up, since the weather affects my ears so much. It means going to specialists multiple times a year. It means if I relocate, wondering if I’m going to be able to find a doctor who will take excellent care of me and understand my condition. It means random joint pain all over my body at sporadic times. It means insecurity because my face looks a little different and feeling like I’m not as pretty as other people. It means wondering what life will look like when I’m elderly, because my body already feels like it’s falling apart at 25. It means feeling frustration when people don’t understand my health difficulties because I “don’t look sick.” These, along with many other problems, can make “normal” life a bit of a challenge. However, having Stickler and Pierre-Robin also means I have a better understanding for others who are fighting health difficulties that are mostly invisible. It means that even though some days I get so tired of my body betraying me, I find the strength to keep living life strong. I may have to slow myself down a little more, but I’ll never let it make me quit. We want to hear your story. Become a Mighty contributor here . Photo by contributor.

    What It's Like to Have Stickler Syndrome

    I have been on this earth for a little over 18 years. In those 18 years, I’ve developed routines and habits that help me throughout the day, like most people do. I’ve grown used to the sighs and the rolling eyes, the “why can’t you just sit here with us?” and “ why do we have to sit over there?” Let me explain. I have perfectly reasonable explanations as to why I do certain things. I have Stickler syndrome. This affects the connective tissue in the body. This also affects hearing, explaining my hearing loss, and eyes. I’ve had several surgeries in my lifetime, including my eyes and my ankles, just to name a few. For now I’m going to be focusing on my joints, bones, muscles and pain tolerance. Just so I can explain some things to those of you who are unfamiliar with the condition. My body is always in pain. I’m used to it – the constant headaches, the sore joints. Even right now as I’m writing this, there is a ache growing in my knee. I can feel it pounding against my joints with every heartbeat, and I’m waiting for it to spread. There it goes – now the pain has grown, making not only my knee, but the whole lower half of my leg now in pain. I’m not doing anything. I’m sitting in bed on my laptop, yet my body decides this is what I need. When I’m with friends, even some family members, you all seem to have an annoying habit of sitting on the floor. For that I envy you. When I move to the couch, I sit on the very edge in a desperate attempt to get closer, or I search for a chair or something to pull over. I see your rolling eyes, I hear you little sighs. Please understand this: It pains me to sit on the floor. I physically am incapable of sitting the way you all do. My muscles and bones won’t allow my body  to sit that way.   I have been able to sit “criss-cross-applesauce,” or however you refer to it, a total of three times in my life. I remember each of them because I’ve cried or come close to crying with joy. The last time, it took me two weeks of trying before I was able to, then it only lasted for a short time before my body sprung out, pain flaming my legs, running up my spine and making my vision cut out for a short time. You know how when you rub your eyes, or stand up too fast, you see that darkness that kind of resembles a galaxy? That accompanies my vision with the pain. Or at least the edges of my sight dim, making it harder to concentrate and see as it is. When I try to sit on the floor, you may have noticed my legs are always extended, my arms always awkwardly behind me. I may appear fine, but let me tell you, on the inside I’m probably counting down the seconds until I can find an excuse to stand up. My hips feel like they are being twisted painfully out of their sockets, my spine feels like a hot knife is being run up and down it. My legs are trembling because the burning is getting stronger. If I drop something, don’t rush me. I guarantee you may have seen me kick things down the halls in school until I could collapse to the ground to pick it up. This hurts, as my full body weight is being slammed down onto my knees, which are also being pushed against a hard surface. Sending all that energy onto a small bone is not healthy, and is evident to the bruises and such that litter the skin covering my knees. Or I stare at it for a few minutes as if it will magically appear back in my hands. Sometimes I’ll even ask someone else to pick it up for me. I’m not being lazy. Please understand I’m not being lazy. When I have to pick something up, I have to work really hard and focus a lot of my attention on specific body parts. I have to relax my lower back, slowly moving down my spine till I’m hanging over my feet. Then I have to hold back my screams and such as I force my legs to bend, the muscles straining, the pain shooting through me and making me lose my balance. It may take a few tries before I can get close enough to the desired object. Then, once I get it, there’s the matter of getting back up. My legs are now shaking, trying to get out of this coiled position. The problem is, if I let them just go for it, I’ll most likely fall flat on my back. Even after I get myself to stand back up, my balance is almost always off, making me stumble a few times before I’m good to go again. Don’t laugh at me. I’ve gotten in the habit of laughing it off, but understand, when I’m in that crouched position, it feels like a thousand tons of pressure is pushing on every side of me. Then, after standing up, my body is uneven, unsteady and also trying to regulate my pain by finding a comfortable spot. Another common thing that seems to affect me a lot is walking. This is mostly with shopping. I’m aware I ask to sit down a lot. Something as simple as a trip to the mail knocks me out. After a few hours, my hips will burn, the pain slowly moving to my spine. My back is already messed up, so with this added pain and movement, it’s going to try and get comfortable, which always seems to just make it worse. Now the pain is moving to my legs. My body has this habit of locking up, which usually starts with my hips. This makes me walk more painfully. I’m unable to let my hips move up and down; instead they move side to side, making me swing my legs around me. Ow. Now my knees are going to lock up, so not only am I swinging my legs, but they are straight. Next will be my ankles, now that my whole lower half is “locked up” or “frozen.” My already bad limp is worse, and much, much more painful. The dull ache has reached a pain level that makes my eyes water. Now while all this is happening, my back is still burning, but my fingers are also getting numb, my headache has gotten to the point I can’t focus and my already bad hearing gets worse. Now add in my asthma. My asthma is usually well under control, but when my body decides it’s going to freeze, that includes my lungs. This makes my breathing short and shallow, thus making me dizzy. My lungs are already damaged, so with this added to it, it’s not a fun time. All I need to do is sit down. But it seems whenever I suggest this, people get irritated. I’m sorry, but if we continue, I’ll pass out. Along with this, people wonder why I get snappy and irritated. My body is under a lot of pain right now, to the point where the only thoughts going through my head are ways to relieve it. I don’t care about those “cute shoes that are totes adorbs.” I care about the fact that my eyesight is cutting in and out, I care about the fact that if we don’t sit down, I’m going to fall down. Now that you’re aware of what happens to my body, let’s fast forward to when we are leaving the mall and getting into a car. I can hear you laughing. You are now educated on how my body locks up, freezes, whatever you want to call it. Getting into a car is not an easy task. Let me provide an example. Let me wrap you up in bubble wrap, but not one layer – no, enough that you can hardly bend or move. The pressure on you is painful. The heat gathering between your skin and the plastic can become unbearable. Let’s put that heat in your bones. Let’s weave it through your muscles. It hurts, it’s uncomfortable. Now, you can hardly move your legs, your back or your shoulders, and you have pain that seems to course through your bloodstream. Now get into a car. Or here’s another example, one that some of you might be able to relate to. I have never personally had a hangover, but from what I hear, they are not fun. Your whole body hurts, your brain is sluggish, every noise and light hurts you to your very core. You feel like you’ve been through hell and back. Now I’m going to make you run. When you’re done running, maybe you’ll feel similar to how I feel on a daily basis. During the time of writing this, the pain in my one leg has spread to my back and my shoulders. I’m used to this. I know how hard I can push myself. I know what things will help and what won’t. So please listen to me. When I ask if we can sit on the couch instead, or when it takes me a few extra minutes to get into a car, please understand. I’m not doing this to be high maintenance, I don’t want to hurt this much doing normal tasks. But this is how I am, and I’d appreciate if you understood. I wrote this because I realized I’ve never really explained to people why I do what I do. I just pass it as a joke to cover it up. I do have good days sometimes where I’m able to move smoothly, quickly, etc. My pain is low, making it more like an annoying dull ache. Other days I can hardly get out of bed, being plagued with pain that fills every inch of my body. Every time I’m able to sit on the floor, pick something off the floor, have a good day at the mall or quickly get into a car, I’m cheering on the inside. It’s something so common or second nature for you guys that you might not understand how someone else could struggle with it. My Stickler syndrome isn’t noticeable at first glance. You may notice I have a limp, but that’s it. I don’t have a handicap sticker for my car, I don’t have a cane or another mobility assistive device. I have hearing aids and bad eyes, among other things, but I’ve had wonderful doctors and family and friends to help me along the way. So people forget. So please be patient with me. I’ve now taken time to try and educate you to help not only myself, but anyone else like me. I know it’s frustrating. I try my hardest and I work through the pain – the least you can do is show me some respect. To restrain from the eye rolls, the sighs and the comments. All they do is make me angry and embarrassed. It’s not going to make me move faster or easier, it’s just going to make me get upset with you. Thank you for reading this. I think it’s something that needed to be addressed. If you have any questions I will gladly answer them. Have a lovely day. Follow this journey on My Road to Recovery. We want to hear your story. Become a Mighty contributor here. Thinkstock photo via Tishchenko.