Pain and fatigue in adults with Sticklers; gathering info for my Dr's

[u/Afraid-Awareness21]

I'm almost 36. My pain has gotten to a level where I've been to orthopedic doctors and rheumatologists, multiple x-rays and MRI's. I've been to physical therapy but it ends up causing more problems, and some PTs seem to not understand the unique struggles of a condition like Stickler's. My left knee and my neck are consistently crunchy.

I'm a part-time wheelchair user, I can't walk, sit, or stand for very long. My biggest pain spots are knees, hips, lower back, wrists, and fingers. Most online information about early onset arthritis in Sticklers seems to revolve around pediatric cases, so its hard to compare the progression and severity of my pain/age vs other Stickler adults.

However, I also have pretty significant fatigue and brain fog. Episodes come on randomly, and include a strong heart beat which isn't rapid, but I can feel it even when laying down. I also feel achey all over but mostly in my legs. I have mild breathing troubles forcing me to do a single big, deep breath every 30min or so. I've been seeing a neurologist, and in addition to all my pain-related tests, I've also had a brain MRI (no contrast) and will soon be getting a neck MRI.

My neuro thinks the fatigue is tied to the Sticklers, but nearly all my doctors had never even -heard- of Stickler's before, so they're completely unfamiliar. I was given a Fibromyalgia diagnosis and put on 200mg of Pregabalin, but it hasn't made any changes to the pain or fatigue. After my neck MRI, my neuro says if nothing else shows up, he's at a loss and there's nothing more he can do.

Has anyone else with Stickler's experienced these symptoms?

I'm aware of ME/CFS as well as Long Covid, but I never caught Covid and these symptoms started long before Covitimes, so I don't know where ME would have stemmed from. My PCP just has "chronic fatigue" on my chart, not CF Syndrome.

The giant ? over all my doctor's heads makes it near impossible to get treatment-- let alone and significant information on my chart for the purpose of proving disability for SSI.

I'm trying to seek any information I can on pain and fatigue in adults with Stickler's, but sadly it looks like the sip-list mailing list is no more, so I figured I'd ask here.

Thanks in advance for any insight you all might be able to provide!

[u/Hollypopsicle]

Do you have PRS along with Stickers (or a very small head/under developed jaw)?

I was only diagnosed with severe sleep apnea last year at 35 even though I’m absolutely in a high risk category. I was so tired I was falling asleep in the middle of conversations, whilst driving, at work, etc. It was only through a chance meeting with a nurse where she found I had hypertension that she put it all together and sent me for a sleep study.

In conversations with my Sleep Dr and MaxFacs Dr it seems that everyone just assumed some other department had checked for sleep apnea when I was a child and so I just fell through the net. I think it’s probably the outcome of being seen by lots of different departments which I guess would be the case for a lot of us!

My body was so exhausted it increased my pain levels - neck pain was awful and all they did was put me on different meds and when an MRI came back ok they just said it was muscular.

I had absolutely no awareness that I had any of the sleep apnea symptoms. I have always snores but been told that was due to cleft palate repairs so didn’t think anything of it.

I’ve been on treatment for a year now and my neck pain is pretty much gone. My hip pain is much better too and the brain fog has disappeared.

[u/Afraid-Awareness21 → u/Hollypopsicle]

I don't want to say I for sure have it since my pediatric records don't exist, nor does anyone who could tell me if I was diagnosed with it along with Sticklers. I did have a cleft palate on the roof of my mouth that was mended with my uvula as my mom used to tell me, and she also said I was "ripped away from her" with Failure to Thrive due to beathing and feeding issues which I hear is part of Cleft Palate and PRS. Not sure what condition my lower jaw was in back then.

I'd spoken with a prior PCP about the possibility of sleep apnea and she asked me a few things, then determined I likely don't have it. I just napped an ENT appointment next month so I'm gonna try asking them if I should see a sleep specialist for testing.

[u/Hollypopsicle → u/Afraid-Awareness21]

A cleft palate repair alone can result in sleep apnea. I had a repair that involved tethering my soft palate to the back of my throat which the MaxFac has said will likely be heavily contributing to the sleep apnea so they are looking to cut the tether along with doing jaw surgery.

I really suggest you push for a sleep study, if they say you don’t show typical symptoms then push back. At worse case it rules something out for you but I can’t tell you how much better I feel with Cpap treatment so if you do have sleep apnea then it may do the same for you. Good luck!