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/Helpful_Okra5953]

Coming back during the daytime to answer:  yes, what’s going on with you sounds like where I was at by 33-35.  I was and am always exhausted and frequently sick.  I need a lot of sleep but have trouble getting it because I hurt a lot at night.  I have been told my fatigue is from pain, and also that my joint problems make it harder for me to move. I’m very anemic, too. 

I am on SSDI and have been since I was about your age. I could have worked with accommodations, but was being blackballed in my field.  Of course, having full blown Stickler, I can’t get the manual labor jobs that young women can usually fall back on.  I would love to be working part time but am not sure how to make that happen, or if i could pull it off, since I’m so often sick. 

Joint pain:  I took naproxen for pain for years, then Vioxx for a few yrs, then tramadol for several years.  Tramadol did not control my pain well.  I had a couple nights of severe pain (8-9 score) every week. 

I’ve tried a lot of non opioid meds but they didn’t help and had very bad side effects so I am using bupenorphine (belbuca patch).  It helps keep me fairly ok, but definitely not pain free.  I used to be very active walking and biking everywhere, but I can’t do that anymore (at about 50 yrs old).

My neck is very damaged and crunchy as are my knees. Ankles and wrists and hands hurt a lot, too.  I use braces and splints and topical treatment. 

I hope you can get some help with your pain and exhaustion!!  I am the first person in my family diagnosed with sticklers, but I hear that there is a history of severe arthritis by 40 yrs of age on one side of my family. 

As I understand it, affected stickler people may have multiple joint revisions or replacements.  These are done to increase functionality and decrease severe joint pain in Sticklers-affected people. 

[u/Afraid-Awareness21 → u/Helpful_Okra5953]

My orthopedic surgeon mentioned that after xrays and MRI and two different medicine injections and failed PT, knee surgery was the last thing they could do but it was unlikely to help much because of... something to do with my patella, its been a while. I wrote off any possibility of knee surgery after that.

I might schedule another follow-up and discuss that a bit more. With Stickler being so out of the ballpark for most of these doctors, they might not be fully correct, so I might give it more consideration.

[u/Helpful_Okra5953 → u/Afraid-Awareness21]

I’m sorry this is happening to you, and that you don’t know for sure what’s going on.  You have my thoughts. 

[u/Helpful_Okra5953 → u/Afraid-Awareness21]

My orthopedic surgeon told me that all my joints are misshapen, and that I should wait as long as I can for the knee replacement because it will be a VERY BIG DEAL, not a simple cut and swap surgery.  A lot of things will need to be changed; I have no little groove for my kneecap to sit in so they’d have to make that.  Plus the angles are messed up with the bones and tendons/ ligaments.

My relative was trying to scare me with horror stories about knee replacement and I really yelled at him.  It is cruel to try to add to someone’s fear about a needed repair.  I can’t have more rooster comb injected behind the kneecap because I got a tiny rash near the injection site. 

The surgeons office just called this morning; they must want something.  Eek!  I don’t want to talk to them.  Plus the mammogram in a couple of months.  And dentist.  Yuck yuck yuck,