I was diagnosed with a rare autoimmune disease called "Relapsing Polychondritis"

@TrixieStix Maybe a bit of a personal question, but did you always somehow feel like you didn't 100% fit the ME criteria? The reason I'm asking is because I always have this thought in the back of my mind: what if I have something else (e.g. something super rare (treatable) and that's why doctors are missing it) - OTOH you can't keep searching forever in the depths of Rare Disease Land, and I fit all ME criteria to a T. That's why I was wondering if you always had an inkling that maybe ME was possibly not what you had? Or did this come completely out of nowhere?

Hope this makes sense

 

@Effi, I pretty often feel there could be something else (I read about some people who were misdiagnosed), although I sometimes think it's only hope because this illness really is a curse.

 

I'm happy to answer your question.

Having had so many tests, and so many other conditions excluded I really did think that there was a high probability that ME/CFS was the correct diagnosis. I met the criteria and the disease described my symptoms well and my experience matched those of other ME/CFS patients. Also the diagnosis had been confirmed by Dr. Chheda at Open Medicine Clinic. And I felt even more comfortable with the diagnosis after my Natural Killer Cell function was tested and came back extremely low (4). I was aware that other conditions such as autoimmune disease can also cause low NK Cell function, but rheumatologists had tested me for autoimmune disease markers repeatedly and the tests had always come back normal and they always assured me they saw no evidence of autoimmune disease.

However ME/CFS never explained ALL of my symptoms and so I believed it likely that I had something else going on "in addition" to ME/CFS rather than "instead" of ME/CFS, but even then I always remained open to the possibility that ME/CFS was the wrong diagnosis.

I would say that my ME/CFS diagnosis turning out to be wrong has been a bit of a shock.

 

I used to feel this way at times, but in reality finding out I have relapsing polychondritis and not ME/CFS has not given me any kind of solace.

 

Thank you for your reply @TrixieStix.

 

After a 4 month wait I finally had my appointment with RP specialist and researcher Dr. B yesterday! Dr. B is the president of an autoimmune research institute and only sees patients for half a day one day a week thus the 4 month wait to see her. She was as great as I had hoped (and heard) she was.

Dr. B started me back on the same dose of Prednisone I had been taking some weeks ago for a very short time (10mg daily) and she has also started me on 200mg of Plaquenil daily. This is only 1/2 the normal dose of Plaquenil, but due to me tending to be quite sensitive to medications she decided to start the dose low and if I tolerate the drug well then in 3 months she will likely up my dose to 400mg daily.

Dr. B stated that Plaquenil even with it's ocular risks is still the safest medicine they have at their disposal to treat RP thus why she is starting with it. It takes a few months to see any effects from the drug so I won't know for a while whether or not it's helping at all. She told me that it's likely she will add Methotrexate into the mix at some point as well. She also stated that she thinks I may be a good candidate for IVIG. ( @Jonathan Edwards do you think this may be because I have both RP and a genetic complement deficiency?)

Dr. B seems to be very interested in my genetic Complement component deficiency and said that she has relationships with complement researchers so she will be able to consult with them about my case. This is really great because complement researchers are very far and few between. I told her that I really would like to have further testing done at some point to pinpoint exactly what kind of complement deficiency I have (C3, Factor H or Factor I ?) and I got the feeling that she also wants to do this is it's possible. I'm thinking that I as a person with RP which is rare disease and also a genetic complement deficiency which is also rare/very uncommon that I may offer an interesting case for research purposes.

After Dr. B finished my appointment she sent in a member of her research team and this young woman explained to me the research program, how it works in terms of donations, my rights, etc. I even found out I get paid $50 each time they take a sample of either blood or tissue from me (helps offset a bit of the travel/hotel costs). After completing all the paperwork the young woman then accompanied me to the laboratory for my blood draw (I get very nervous because it's often very painful for me & I have a needle phobia). She made sure I got a skilled phlembotomist and she even held my hand and talked to me during the whole draw. I deemed her my "research concierge" So now the research team has 3 vials of my blood and if they need more in the future they will contact me and schedule it for when I have follow up appts with Dr. B.

So my RP treatment journey begins. Only time will tell how well I respond to and tolerate the various drugs used to try and control the disease.

 

So glad this went well - keeping my fingers crossed for your treatment @TrixieStix

 

I am afraid I know very little about treatment of RP. There may be few or probably no formal trials. I don't think IVIG would be relevant to a complement deficiency in particular.

I had a look at the Beneroya website. One of the team leaders is Gerald Nepom, who is a major figure in autoimmune research. I think contributing to their research programme for rare conditions like RP is very worthwhile. Whether or not they will be able to find a treatment that deals with your symptoms I do not know, but they are likely to be as good a bet as anyone! I have never heard of a case of RP being treated with rituximab, and I do not even know if RP patients have detectable autoantibodies but no doubt the Beneroya people will be aware of the options.

 

Thank you so much for taking the time to look up Beneroya's website and letting me know about Gerald Nepom.

As for detectable autoantibodies being found in people with RP... "Studies have shown that 33% of patients with RP had circulating antibodies of type II collagen in the active phase of the disease and their titres also corresponded to the disease activity."

Doctors tested me for type II collagen antibodies back in October and my test came back negative.

I definitely agree with you in regards to the question of whether or not doctors will be able to find a combo of treatments that treats/improves my myriad of symptoms. I know I am in the best hands I can be as an RP patient so that's comforting. From looking thru posts in the few RP support groups there are online I've gathered that it really does seem to be a bit of a crap shoot in terms of finding effective treatments for each individual RP patient. There is no standard cookie cutter treatment regimen that works for all or even most RP patients. Far from it. I also see many people mentioning how one particular medication gave them some improvement and/or remissionfor a number of years then just suddenly stopped working. Do you know of any immunological science that would explain or even just shed a little light on why treatments that work for an AI patient can just suddenly stop working?

As for IVIG use in RP patients, I will get to ask Dr. B more about it in the future.

 

There is a reasonably plausible explanation for this. In order for B cells to make autoantibodies in any significant amount they almost certainly need to egg each other on. The most powerful signal for a B cell to start making lots of antibody to an antigen is to be 'presented' the antigen together with an antibody already made by another B cell plus complement fragments.

So it is likely that autoimmunity arises when enough different B cells keep misinforming each other that a self protein is 'foreign'. It is a bit like when bad grammar creeps in to language. One person starts saying 'different to' instead of 'different from' and then another person picks it up and before long everyone is saying it.

In this scenario, if you use a treatment that knocks out one of the egging on signals (perhaps blocks a complement receptor binding) then all the kerfuffle about making autoantibodies may die down quite a lot. With gold thiomalate for rheumatoid in some cases it actually seems to stop the whhole process for good in a small proportion of people. But in most cases at least some B cell clones are still churning out low levels of autoantibody. And if some new clones get produced by the bone marrow that pick up the bad habits from thee in a slightly different way (maybe not so dependent on that complement receptor) the whole egging-on business can start up again.

This seems to be why rituximab can settle down autoimmune diseases for anything up to five years at one go but in the long run the problem seems to wind up again in those diseases that are traditionally life long.

Antibodies to type II collagen are always a bit hard to interpret. They turn up in lots of situations non-specifically. I doubt that they are key to RP. So not having them probably does not make much difference. If RP is autoantibody driven a trial of rituximab might well be worthwhile but there are lots of pros and cons to consider. It would be easier to justify if somebody found a more reliable and specific antibody test.

 

Thank you @Jonathan Edwards for explaining that to me.

I am aware of at least a few RP patients who have tried Rituximab. It's something I will ask Dr. B about.

 

I was thinking today that perhaps what Dr. B meant was that I may be a good candidate for IVIg because my genetic complement deficiency may mean that Medicare will pay for it since they cover IVIg for "primary immune deficiency". Just a guess.

 

Sounds plausible!

 

Best wishes on your RP treatment journey!

 

@Jonathan Edwards
I see that a new paper published in January about RP titled: "Refractory Relapsing Polychondritis: Challenges and Solutions" has this to say in regards to the use/study of rituximab for RP.

"Relapsing polychondritis has not remained on the margins of history with the introduction of biologics in our therapeutic arsenal. The alleged autoimmune nature of this disease was a major argument to justify the use of targeted biological therapies in patients with relapsing polychondritis refractory to the conventional immunosuppressive agents. Given the evidence of T-helper cell infltration; the presence of antigen-antibody complexes in involved cartilage; the cellular humoral responses directed against type II collagen, matrilin, and other antigens in the sera; the frequency of HLA DR4; and the improvement after immunosuppressive therapy, it was logical to propose drugs blocking cellular pathways of immune responses and/or drugs targeted against B cells such as rituximab or abatacept.

Furthermore, increased expression of cytokines in relapsing polychon- dritis including TNFα, IL 1, and IL 6, particularly during relapse, can justify the use of specifc inhibitors of these cytokines. However, no clinical trial is available to support an evidence-based medicine approach for the use of biologics in relapsing polychondritis.

Therefore, the use of biologics is currently based on the estimation of disease activity and severity. Most of the biologics used and the strategies of treatment are borrowed from rheumatoid arthritis. The waltz with biologics was opened in 1991 with anti-CD4 monoclonal antibodies. A transient effcacy was observed in two patients with a rapid decline in circulating blood CD4 levels and a secondary return to normal levels more or less rapidly, without adverse event. It was not until the 2000s that watched a wave of publication on the effcacy of biologics in the management of relapsing polychondritis. Thus, anakinra, anti-TNFα (infiximab, etanercept, adali- mumab, certolizumab pegol), abatacept, rituximab, and tocilizumab have been prescribed in many patients.

No clinical trials had been conducted with biologics in relapsing polychondritis. Five years after the recommendation was made, no randomized clinical trial has been conducted.

Only one study has clearly defned the endpoints during evaluation of the effects of rituximab in nine patients. In this study, disease activity was compared in the 6 months preceding rituximab administration and at 6 and 12 months after administration. Disease activity was evaluated on clinical features, CRP levels, thoracic CT scan, spirometry, corticosteroid regimen, and any change in immunosuppressive drugs." (link to the study below)

http://onlinelibrary.wiley.com/doi/10.1002/art.24366/full

 

Very interesting @TrixieStix.

I was not aware of this. It is published in something of a 'B movie' journal but I actually think it is a good, honest, account of treatment in enough cases to tell us something useful. I need to think a bit more about RP. This study makes me think that maybe it is not a B cell driven disease. There might be other reasons for thinking that. That would make it a very interesting form of immunopathology. RP is not particularly like the well documented T cell mediated diseases either but seems pretty sure to be some form of autoimmunity.

I have been finding it interesting but puzzling trying to get to grips with ME. Trying to get to grips with RP as well may be more than I can manage, but there are lots of reasons why it actually should be easier. I will report back if I get any light bulb moments!!

 

Be careful not to stay on Prednisone for a long period, it can have significant side effects including permanent osteoporosis.

 

Yes I really do hope I can taper off Prednisone completely someday, but unfortunately many RP patients are forced to remain on Prednisone for years, even decades (for life). My doctor currently has me on the 10mg daily with the hope that we will eventually be able to taper me down to 7mg. This will depend on whether or not I respond (and how well i respond) to immunosuppressives and/or biologics.

Recent NIH guidelines for rheumatological patients on long-term daily Prednisone has set 7mg or less daily as a cut-off for "lower risk" in terms of bone loss/breaks/osteoperosis. I am taking 1,000mg of Calcium Citrate daily as per the NIH recommendations. If I end up needing to increase my Prednisone dose I will be sure doctors have me on the appropriate bone loss prevention meds and that they monitor my bone density.

 

@Woolie (you wrote the following to me previously)

"I'd be interested in hearing more about the relationbetween your ear/cartilage flares and your ME-like symptoms. Did one precede the other by a long time?"

I was
reading back thru this thread and realized I never responded to this question you asked me.

My ME/CFS-like symptoms preceded my ear chondritis by almost 4 years.

Knowing what we know now we think my 1st major RP flare was 2 years ago when I experienced sudden onset of dramatic neurological symptoms 2 days after my wedding. It consisted of vision/eye issues, facial palsy, myoclonic-like jerking, gait disturbance, nystagamus when my eyes were closed, vertigo, and much worse fatigue/malaise. At the time doctors were at a loss as to what was causing these symptoms to suddenly arise.

My ear chondritis did not start until around May of last year.

 

i really liked reading your story. i think it is useful for those of us who can share this kind of thing. many people with m.e. are a bit uncertain. in my case, i strongly fit m.e. [meicc + stuff pwme say] but also have too many signs and symptoms [an insane number] to have them be accounted for by only m.e.

please feel free to ignore these questions if you prefer not to answer. i am glad you were able to figure it out.

do you have a list of your signs and symptoms someplace? if you fit m.e. diagnoses, which criteria? does rp account for your m.e. symptoms?