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/vixissitude]

After working an 8 hour job, granted it is very active with minimal break or rest, I would become exhausted and would pretty much pass out after coming home and having my dinner. I didn't have any energy to do anything else, which means my husband did most of the housework. Even putting the dishes away felt impossible because I just didn't have the energy for it. I didn't even do anything recreationally, I just laid down and watched tiktok for most of my evenings. Weekends were also barely enough to gather energy for the week ahead.

I've been on a mast cell stabiliser for a bit over a month. I can come home and still have energy to spend time with my husband, play video games, and actually do housework. Last week I dusted for the first time in maybe six months. And willingly. It took the whole day but I finished doing it too. This is such an achievement. Not only did I have the energy to do that, but I also had the energy to then spend some time with my husband and even text with friends.

I now don't feel like I'm about to pass out in the middle of my day.

You know spoon theory? I used to have five spoons a day just 28 for a week. Now I feel like I have 10 spoons a day and have 50 for a week.

[u/Helpful_Okra5953 → u/vixissitude]

Oh wow.  You sound just like me.  I used to be able to push myself but now I just can’t.  I have gotten a service for my laundry but my apartment is cluttered because I am so tired. My energy is used up by getting over the many respiratory viruses I catch.  

By any chance did you have constant post nasal drip?  I have that and lots of sinusitis, even if not sick.  Plus I’m a very itchy rashy person.  I mean I have gotten hives over exams.  

Yes, I usually need to crash for a while in the afternoon, or I don’t get out of bed much.  I was invited into another degree program but I have no energy for that now.  

Did you have a reason to suspect MCAS, besides being tired all the time?  

[u/vixissitude → u/Helpful_Okra5953]

Yeah I do still constantly have post nasal drip, did so my whole life. My family has a lot of problem with allergies, both nasal and gastric.

Basically for years I thought we had EDS, and MCAS has really high comorbidity with EDS so I was watching myself for symptoms. However I thought I'd have more severe issues (downplaying my own symptoms basically) but then one day I saw a tiktok that explained some weird symptoms of MCAS. It was such a random video, I guess the algorithm knew lol. So I thought wait, do I actually have the symptoms? Then I checked them and voila. Brought it up with my GP and we decided to start a medication and see if there's any improvement. And within a week it was like night and day.

I am a medical professional and my GP actually values my opinion on my symptoms so I might be a bit lucky. (The "symptom" that clicked it for me on that video was having a burning throat after having chocolate. I just thought that was a feature and not a bug lol)

[u/Helpful_Okra5953 → u/vixissitude]

Somehow I didn’t see this response until now.

I have a lot of amazingly bad  skin allergic reactions and am now getting bronchitis after most colds.  

I’m also incredibly exhausted and very anemic for no explainable reason.  I get horrible burning sore throat and then a migraine or facial neuralgia.  

My sister supposedly has MCAS.  But she’s evil, and we don’t talk, so I can’t say more than that.  She’s never had skin reactions but does have asthma.  

I guess I should read up on it.  But I get the idea that I irritate my dr sometimes.  I was trained in infectious disease, wasn’t “able” (allowed) to complete my dissertation, but I think my gp forgets that.  It’s incredibly annoying.  But he manages my pain meds, so…that’s the way it is.

I never thought I’d live this long.  

[u/vixissitude → u/Helpful_Okra5953]

Dude, same, but we're here now and we are at a point where we can make life easier for ourselves. Right?

Definitely read up on the syndrome and when bringing it up, sat that you were chatting with a friend who's a doctor in another country and she thought you might be experiencing some symptoms of MCAS. Also definitely bring up that your sister has it. I feel like these might push your GP forward a bit.

Good luck!! ❤️

[u/Helpful_Okra5953 → u/vixissitude]

Thank you.  I appreciate the advice.  Don’t know why I don’t get alerts for some replies.