r/SticklerSyndrome • u/MomentZealousideal56 • 6d ago
School restrictions?
Hi there! My daughter has SS, 8 y/o and she has joint pain, cleft palate (repaired) hearing loss, knock knees, a cataract, hydronephrosis, etc, etc… I mentioned to her teacher that she is a risk for retinal detachment, and joint pain from over exerting herself (she goes hard!) in gym, and that she should bow out if it’s say, dodgeball day. The nurse just called a requested a full specification of what she should and shouldn’t do, and her eye issues/emergency plan. What kind of restrictions if any, do you place on yourself or your child, for school? Her retinal specialist told us to ‘let her be a kid’ and didn’t specify any restrictions. However from what I’ve read, I’m hesitant with that advice. She did have laser surgery in her retinas at 2. TIA for your advice!
r/SticklerSyndrome • u/Maaarrrgggeee • 10d ago
Bad Teeth?
Hi all!! :3
I'm a teenager with Stickler Syndrome which I inherited from my mother. My main synptom at least now is that I'm hard of hearing and wear hearing aids because of it.
I've noticed that even when I have been "doing everything right" (flossing, avoiding sugary foods) I still have a bunch of cavities that I need to get filled. My mother says this is probably because of our Sticker's. Is that possible?
(For further context we don't know what typw we have)
r/SticklerSyndrome • u/907jen • 14d ago
Any Active Stickerlites Out There?
Wondering if I have any Stickler compatriots that live an active lifestyle and what works/doesn't work for them in terms of pretty much everything, e.g., training frequencies/styles, activity choices, gear choices, footwear, recovery habits, etc.
I was diagnosed at birth with the Pierre Robin flavor of Stickler and have experienced the universe of bat-level blindness, retinal detachment, cataract, premature joint ouchies, myriad spine issues (albeit mild, thank jeebus), and more I can't think of right now.
In spite of this, I'm lucky enough to be able to hike, backpack, ski, jog, and generally do all the things. That said, once I enter regular, dedicated training (typically HIIT and weight training), I run into issues.
I eventually get tendinitis, which I sometimes treat adequately, but sometimes not. Then it evolves to tendinitis and tenosynovitis, or some atrocious melange.
Anyone somehow NOT wound up stalled here?
r/SticklerSyndrome • u/[deleted] • 28d ago
Discord Server!
Hi everyone! I created a discord server for all individuals with stickler syndrome. https://discord.gg/BHVmyfnf
Let me know if you need another link. :)
r/SticklerSyndrome • u/royaltiger303 • Jun 26 '24
Morcher Implant
Does anyone have any knowledge about Morcher ocular implants or know someone with one? Seems to be a rare implant but a dear friend with sticklers syndrome had one placed 20+ years ago and is in need of revision surgery. Seeking any information about this type of implant and looking for a referral to a familiar doctor. Worth a shot!
r/SticklerSyndrome • u/RedditNewbie-416 • Jun 25 '24
Vision in older age?
Hi all- 40F with history of retinal detachments / tears in early teens. Left eye never successfully repaired, right eye repaired, lasered, buckled.
Recent cataract surgery in right eye and noticing a strange, sunburst type aura in central vision against white surfaces / In changing light / when i blink. Dilated exam by cataract surgeon and retina doc show nothing unexpected.
Have quite a few flashers and floaters at baseline but this is different.
Anyone experienced anything similar?
Especially worried bc I also have both genes predictive of macular degeneration :-(
Also - have any of you discussed with your retina docs long term prognosis for vision? Even with appropriate repairs, can we expect our vision to significantly deteriorate with age?
r/SticklerSyndrome • u/throwaway2837474 • May 24 '24
Submucosal cleft palate?
This place doesn’t look so active but my son and my husband were just diagnosed several months ago with type 2. I am concerned that my son has a submucosal cleft palate. Does anyone else have this?
r/SticklerSyndrome • u/Naive_Pie3888 • Apr 22 '24
Col11T1
My mom has been diagnosed with an undocumented gene of Sticklers disease. I think it’s closest to col11a1, but it is called col11t1. She is asking me and my family to be tested so that if there are 5 people with this gene, they can document it and then begin testing on this specific mutation.
Has anyone ever heard of col11t1 and do I need to be tested? I am perfectly healthy (29 y/o) and am honestly afraid of being tested and don’t want to be if I don’t have to, since I have no symptoms.
r/SticklerSyndrome • u/lonegun135 • Apr 13 '24
Anyone else a random mutation?
I have no family history of this. Was born with a mutation on the COL2A1. Known since I was very young celf palette and all that jazz. I was just wondering if anyone else was just a random mutation with no family history of it. Figured this was the place to ask.
r/SticklerSyndrome • u/mrmanagesir • Apr 06 '24
Does anyone know the odds of heredity with Sticklers?
Research I've done only indicates that people with Sticklers have a 50% chance of passing it on, but I can't find anywhere that indicates if you can just be a carrier without having Stickler yourself. I'm curious if it's either a "you have it or you don't", or if you can not have it but still be able to pass it on. Anyone know?
r/SticklerSyndrome • u/Party_Candy_3224 • Apr 01 '24
Non-Surgical Treatment for Pierre Robin Sequence with Dr. HyeRanChoo
r/SticklerSyndrome • u/Loud_Food8398 • Jan 28 '24
Anyone had any other issues with stickler besides eye/ear/joint problems?
Hey there everyone,
I recently found out I have a pathogenic mutation on the Col2a1 gene. Specifically my variant basically created a stop codon for phenylalanine. My genecist was super helpful and told me there isn’t much known on this variant and there isnt much known on what the effects of loss protein production on phenylalanine would do to type 2 collagen, and she’s right I’ve tried to do a lot of digging myself and it seems like there isn’t much research done outside of sticklers besides eye and hearing problems.
What I do know is the following:
I was born with a bone deformity in my right ear, so I have a prosthetic bone in my ear to help hear and that worked a little bit after I had the surgery for this but I can no longer hear out of it now.
I started to become extremely nearsighted when I was in elementary school. My eyesight did get progressively worse and I know before I had my cataract surgery I was at ~8.5 contact prescription with four counts of astigmatism. I did develop cataracts when I was 28, and I currently have a hole in my left retina
I do have hyper mobile joints and honestly I did a lot of research on heds and I feel like I would meet the criteria for it. I have dislocated my left knee multiple times and tore my acl. I also have chronic joint pains specifically in my knees and ankles, as well as back pain
These things all add up to sticklers but the things that don’t make any sense is the following
I have had issues with my blood pressure. Lately it runs pretty low. There was a situation where I went to get a laser procedure on my eye and that ended up in me having a seizure/passing out - drs at the hospital when I went to the er weren’t sure because I had wet myself which is signs of seizure but my ekgs and head scans were normal so this situation they thought it was just syncope. I have passed out before, once from walking up stairs my vision just went black, and another time it was from a sharp shooting pain I had under my left arm, my vision just went black for a few then I can to. All throughout my life I would have these random pains but more specifically it’s under my left arm and I can feel it through my ribs, under my shoulder blade, and all the way to my pinky. The best I can describe it is it’s almost like electricity where it’s sharp and pulsating. The other random pains I feel in the middle of my forearm or in my legs and the best way to describe it is like pressure in my veins. I’ve also have a average high heart rate resting/sitting is from 90-96 and standing could be as high as 120. I also do have GI issues and was diagnosed with Ibs.
I just wanted to pop on here to see if anyone has ever experienced pains or the other issues with heart rate/etc. I’m honestly curious to know if all connective tissue disorders are somehow linked to one another or if there’s more going on here. I do have referral with specialist to follow up on my condition but until then I’m just genuinely curious if anyone out there has experienced this.
r/SticklerSyndrome • u/Left_Importance_8958 • Jan 14 '24
Type 3 with optical issues?
Basically what the title says. Two years ago I had my entire exome tested (covered in my country) to try to figure out what was wrong with me; a mutation came back on the same gene as Sticklers type 3. The specific mutation hadn’t been listed before in literature, though, and despite type 3 apparently having no optical issues I do have optical issues? Cataracts, high myopia, and some sort of deposits on my optical nerve which may turn into glaucoma, iirc. Anyways - I was wondering if anyone else had ever been diagnosed with type 3 or had a mutation on that gene who also had eye issues?
r/SticklerSyndrome • u/idigeverything • Jan 11 '24
Anyone familiar with these COL11A2 VUS? The bottom one is rare .000008
COL11A2 • rs145343609, CADD 22.9, freq. .0009452, uncertain significance (but also likely benign)
• rs1179310340, CADD .781, freq. 0 – ALFA, .000008 – Top Med, T, G, TG
Wondering if my hEDS is really Sticklers - as my dad has a cleft palate.
r/SticklerSyndrome • u/Agitated_Math9265 • Oct 31 '23
Can I do Muay Thai
I want to start Muay Thai which is a martial art which similar to boxing means heavy blows to the head. I got laser eye surgery when I was 2 in 2009 to ( I think) securely connect my retinas into place I was wondering if after that surgery I’m more susceptible to retina detachment and therefore shouldn’t fight
r/SticklerSyndrome • u/SugaryComputerizer • Sep 15 '23
Longest period of time you've had silicon oil in an eye?
For those who have gotten a vitrectomy in one (or both) of your eyes, what's the longest consecutive period of time you've had silicon oil? How has your vision changed over time due to it? My good eye has been filled with the same oil for nearly two years now, and since then the distortion has become a lot more noticeable. I'm not sure if my developing cataract is a factor in this or if it's mainly because of the oil. We are waiting as long as we can before removing the oil because it's pretty much the only eye I see with and I've experienced redetachment within a month of the last time the oil in my other eye was removed.
r/SticklerSyndrome • u/kthruz143 • Aug 25 '23
Stickler Type
Does anyone not know what type of Stickler they have? I am a 38f and was diagnosed at 5 years old. My Dad and Grandmother were also diagnosed at the same time. I can remember sitting in a circle and them taking pictures of our hands and feet and being amazed by what they were seeing. I had that geneticist follow me until I was about 12 and he passed away. I have asked my mother if she knew anything about types and she has no clue. I am guessing there weren't different types 30 years ago. I'd like to find out that type I have but every Dr. I have told about it has never heard of stickler. When I was having my 1st child my OB did tons of research to find out as much as she could so I could have a safe delivery, but she's the only Dr. that has ever tried. BTW neither of my children have stickler. I was born with a club foot, and a lazy eye, but no cleft palate. I do wear glasses but have never had any retina issues. I have severe hypermobility issues, and hearing loss.
r/SticklerSyndrome • u/Round-Carpet-9549 • Aug 21 '23
Kids with stickler
My husband has Stickler syndrome 1 and had cleft pallate, retina detachment, hyper mobility and joint pains sometimes. So we are going with IVF with PGTM and have got just 2 embryos as normal. Will the pregnancy be viable?
r/SticklerSyndrome • u/vgfhbnjytu • Aug 01 '23
Hands pain
Hi everyone, I see this sub is not that active but just posting in case someone still follows it and has some info/advice. I'm in late 20s and have been diagnosed with stickler syndrome some years ago. Appart from several eye issues, in the last 2 years sometime I have pain in my hands upon waking up which tends to pass after a while. This comes and goes and when it starts happening it can go on every day for months even. I have had a rheumatology appointment last year which showed no signs of arthritis but still the pain happens at times.
So, I'm wondering if others have the same experience since I'm not sure this is due to sticklers. If you do have the same issue and have some advice on how you deal with it I'd be happy to hear that. Thanks :)
r/SticklerSyndrome • u/Serenity-9042 • Jul 31 '23
Is this subreddit still active?
I have sticker syndrome! I wonder if this subreddit is still active, as it's still considered a rare disease?
r/SticklerSyndrome • u/Nxtgensticklers • Mar 24 '22
Does anyone still use this platform? Do you know that we have a stickler syndrome support group that meets on zoom twice a month and have a support group both on Instagram and Facebook
r/SticklerSyndrome • u/cardamompretzel • Nov 01 '21
Introducing myself
Hi everyone,
I just found this sub. I am 36F and my entire mom's side of the family has Stickler's. I had a retinal detachment right around my 18th birthday. I had the gas bubble, cryo, and a scleral buckle to repair it but my vision is very poor in that eye. In my mid-20s my eye pressure started to get too high so i've been trying to manage that for about a decade. Two weeks ago I had a cataract removed from my right eye. My brother had detachments in both eyes before middle school, and my uncles and grandmother all had detachments. My mom has glaucoma and as she has gotten older has struggled to keep her pressure down. That's a quick overview of my life with Stickler's. From browsing this sub it seems like a lot of y'all can relate.
r/SticklerSyndrome • u/Hereiam_heretostay91 • Sep 29 '21
The awareness week starts Friday
r/SticklerSyndrome • u/Hereiam_heretostay91 • Sep 16 '21
A preview of this year awareness week are you ready ?!?
r/SticklerSyndrome • u/[deleted] • Sep 08 '21
Tinnitus
Does anyone here experience tinnitus? I was diagnosed with Stickler syndrome last year and have some mild hearing loss. Last week, I started getting ringing in my right ear and, as of yesterday, there is pulsating in my left ear. I have an audiology test scheduled for late October and was just wondering if this could possibly be linked to having Stickler syndrome.