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

Gingergrrl said:
@TrixieStix You are very brave to share those photos and I believe they will help someone else down the line. Do you have a definitive diagnosis now of RP or are more tests being run? How are you feeling lately?
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Still no official diagnosis, but I've still only seen the one rheumatologist about it the one time in October. Her attitude was to wait and let the RP specialist do the diagnosing, but my appt with the RP specialist isn't until the end of February (she only sees patients 1 day a week due to being focused mainly on research). The rheumatologist I saw went ahead though and ordered some of the baseline tests that are done in patients with RP such as Pulmonary Function Testing and CT scans. I did the pulmonary function testing earlier this month, and I've yet to do the chest/throat CT scans as I want to wait until someone who has more experience with RP in involved in my case as the CT scans need to be done in very specific ways and I don't want to have to repeat them.

When I mentioned the possibility of me having RP to the rheumatologist/immune deficiency specialist I saw recently about my complement deficiency told me about a rheumatology/medical professor colleague of his who he knows has experience with RP patients and he kindly referred me to him as he thought his colleague would be able to see me much sooner than the RP specialist. I have an appt with him on January 8th. If he ends up being a dud I still have the appt with the RP specialist at the end of February. Hoping he's not a dud.

In terms of how I feel I have all the same symptoms I've been dealing with day in and day out all year, but in the past weeks my trachea/thyroid cartilage pain has become much worse/more pronounced, I've started to experience significant jaw joint pain triggered by eating/talking, and my costochondritis has worsened also. My nose continues to hurt 24/7 as well but without any visible swelling (I'm told this happens to many RP patients). Time is of the essence in terms of RP and treatment to minimize permanent damage so it's not ideal at all that I'm having these symptoms and not receiving treatment, but I'm trying not to stress out or worry too much about it. My appts are when they are and it's not something I can change. When I see this next rheumy on January 8th I am prepared to impress upon him the importance that I be diagnosed, get the correct scans, and begin treatment (steroids) especially given that I am having symptoms in my trachea/throat and they are worsening. I'm still feeling very confident RP is what I have.
 
I was officially diagnosed with Relapsing Polychondritis yesterday. I have been started on 5mg of Prednisone daily and I will also start taking either Plaquenil or Methotrexate soon as well. Doctor yesterday said that I am a great example of "Hickam's dictum". Tell me about it!
 
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Woolie said:
Reading your story, I noticed that no-one actually offered you this diagnosis - you had to ferret it out for yourself. I think this is a good lesson for all of us. By all means, let's ask our doctors for advice, but let's never put them totally "in charge" of our health
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The problem is - that's my experience (with southern German doctors) - if you come up with an idea what you might have you are quartered in imagination, get secretly a psycho diagnosis and are sent away. You won't be taken seriously.

What I see as huge luck is the fact that you, @TrixieStix, met doctors that seemed to be open and wanted to help. I am happy for you.
 
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Inara said:
The problem is - that's my experience (with southern German doctors) - if you come up with an idea what you might have you are quartered in imagination, get secretly a psycho diagnosis and are sent away. You won't be taken serious.

What I see as huge luck is the fact that you, @TrixieStix, met doctors that seemed to be open and wanted to help. I am happy for you.
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This doctor said
Woolie said:
Gad you're finally getting treatment, @TrixieStix!
He seems to be saying you have multiple diseases (Hickam's dictum is about having more than one disease at once). Isn't it more likely that all your symptoms are the result of RP?
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Nope. I have...

Hereditary Spherocytosis (a type of congenital hemolytic anemia)

a rare genetic Complement Component deficiency

I was born with 2 extra ribs (bilateral cervical ribs) causing severe Bilateral Neurogenic Thoracic Outlet Syndrome

Endometriosis

Adenomyosis

Chronic Migraines

Fibromyalgia

Small Fiber Neuropathy and Sicca Syndrome (Sjogren's Syndrome is suspected as a possible cause of those 2 things)

Relapsing Polychondritis (RP)


Vasculitis can accompany RP so it remains to be seen if I have that as well. A good % of RP patients also have at least 1 other autoimmune disease in addition to RP. Like ME/CFS, RP has no biomarker. Also inflammatory markers such as CRP and Sed Rate are normal or just very slightly elevated in many RP patients even when the disease is very active. I am one of those people, my CRP has always been normal and I've only had a very small increase (18 instead of my usual 2) of my Sed Rate twice. So like ME/CFS a person with RP can have active disease, feel like total crap, but have totally normal blood tests. This is why diagnosis can be delayed for years. Also it can take years for someone's symptoms to progress enough to the point where someone meets the diagnostic criteria for RP. Before October even if had known about RP and suspected it I would not have met the criteria.

I've had 10 body parts removed over the past 4 years for issues unrelated to RP. 2 ribs, 2 scalene muscles, 1 ovary, 2 fallopian tubes, 1 uterus, 1 cervix & 1 appendix. I'm not even 40 yet! Also had to have my gallbadder remover at age 21 due to my Hereditary Spherocytosis bringing the grand total to 11.

Hickam's dictum!
 
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Woolie said:
:( I am lost for words, @TrixieStix. So sorry for what you've been through. :cry:
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Thanks. It's been quite surreal. While I am hoping that my ME/CFS diagnosis was wrong and that it's the RP (and possibly also Sjogren's) causing my fatigue and PEM I guess I won't know for sure unless the medications I'm put on improve those things. There are a couple people in the RP groups who also have a CFS diagnosis in addition to RP.
 
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TrixieStix said:
Thanks. It's been quite surreal. While I am hoping that my ME/CFS diagnosis was wrong and that it's the RP (and possibly also Sjogren's) causing my fatigue and PEM I guess I won't know for sure unless the medications I'm put on improve those things. There are a couple people in the RP groups who also have a ME/CFS diagnosis in addition to RP.
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I think it is likely that ME/CFS symptoms are due to whatever is causing RP - i.e. part of that illness. It seems to me a good example of how immune diseases can show themselves mostly as just feeling terrible, with the specific symptoms and signs in particular organs being hard to track down at times. It is well known that people with Crohn's disease can present to various specialities as someone looking very ill without any obvious bowel problem. When the detailed tests are done the bowel involvement is found but it may have few symptoms. I think it may also be relevant to Hashimoto's disease where people feel ill quite independently of whether or not their hormone levels are out of line.

There seems to be no doubt, from conversations on S4ME, that at least a small proportion of PWME have specific immune disorders that may well respond to specific immune targeted treatments. The phase 2 rituximab trial raised the possibility that this might be the case even for two thirds of patients and that autoantibodies were the common pathway. But it looks now as if we are probably back to the idea that there may be several rather different immunological diseases feeding in to the ME picture, each of which may need a different treatment approach. And in total they may only account for a minority of cases.

It does, however, rather strengthen the idea that there is some common signalling system that generates PEM and other ME symptoms that may not be one of the cytokines we are familiar with but can be tripped by a whole range of immune disturbances.
 
I have sjogrens also. I do not have RP and I am sorry you have this diagnosis. I also have a primary immune deficiency-CVID and lymphopenia. I have had so many surgeries, too. Lost an ovary, Fallopian tube, wrist surgery, back surgery in 1995 and (partial disc removal) and thyroid removal. They think I have EDS, too and I am possibly facing another surgery. I have costochondritis and intercostal neuralgia which has been helped by Plaquenil.

I am so sorry you are on this path. I was originally diagnosed with CFS but now it's all things mentioned above. I think it just goes from one thing to another. Every time I turn around, there is something else failing.

I am also on prednisone and Plaquenil. I hope to hear how you are.
 
Jonathan Edwards said:
I think it is likely that ME/CFS symptoms are due to whatever is causing RP - i.e. part of that illness. It seems to me a good example of how immune diseases can show themselves mostly as just feeling terrible, with the specific symptoms and signs in particular organs being hard to track down at times. It is well known that people with Crohn's disease can present to various specialities as someone looking very ill without any obvious bowel problem. When the detailed tests are done the bowel involvement is found but it may have few symptoms. I think it may also be relevant to Hashimoto's disease where people feel ill quite independently of whether or not their hormone levels are out of line.

There seems to be no doubt, from conversations on S4ME, that at least a small proportion of PWME have specific immune disorders that may well respond to specific immune targeted treatments. The phase 2 rituximab trial raised the possibility that this might be the case even for two thirds of patients and that autoantibodies were the common pathway. But it looks now as if we are probably back to the idea that there may be several rather different immunological diseases feeding in to the ME picture, each of which may need a different treatment approach. And in total they may only account for a minority of cases.

It does, however, rather strengthen the idea that there is some common signalling system that generates PEM and other ME symptoms that may not be one of the cytokines we are familiar with but can be tripped by a whole range of immune disturbances.
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That's was a really useful post in increasing my understanding, @Jonathan Edwards. I guess that's what was running through mu mind about dual diagnosis of autoimmune disease+CFS. The fatigue is probably linked to the autoimmune disease. But in @TrixieStix's case, there really do seem to be multiple apparently unrelated things going on.
 
Esther12 said:
Very best wishes with any future treatment.
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Thanks. The rheumy who diagnosed me with RP and who had only just met me 40 minutes beforehand of course said..."You need to start doing aerobic exercise. Lots of people with Fibromyalgia feel bad when they overdo it".

Whoa doctor why hadn't I thought of that over the past 3 years!! (cue sarcasm). For now I think I'll stick to what I know keeps me from becoming bedridden and unable to take a shower for months at a time. That would be not exercising whatsoever and avoiding any type of "exertion" that results in me experiencing PEM.
 
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Jonathan Edwards said:
I think it is likely that ME/CFS symptoms are due to whatever is causing RP - i.e. part of that illness. It seems to me a good example of how immune diseases can show themselves mostly as just feeling terrible, with the specific symptoms and signs in particular organs being hard to track down at times. It is well known that people with Crohn's disease can present to various specialities as someone looking very ill without any obvious bowel problem. When the detailed tests are done the bowel involvement is found but it may have few symptoms. I think it may also be relevant to Hashimoto's disease where people feel ill quite independently of whether or not their hormone levels are out of line.

There seems to be no doubt, from conversations on S4ME, that at least a small proportion of PWME have specific immune disorders that may well respond to specific immune targeted treatments. The phase 2 rituximab trial raised the possibility that this might be the case even for two thirds of patients and that autoantibodies were the common pathway. But it looks now as if we are probably back to the idea that there may be several rather different immunological diseases feeding in to the ME picture, each of which may need a different treatment approach. And in total they may only account for a minority of cases.

It does, however, rather strengthen the idea that there is some common signalling system that generates PEM and other ME symptoms that may not be one of the cytokines we are familiar with but can be tripped by a whole range of immune disturbances.
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@Jonathan Edwards

I've been thinking about how I should approach my CFS diagnosis with the RP specialist when I see her next month.

The doctor I'm seeing is the President of the Benaroya Research Institute.

"Benaroya Research Institute at Virginia Mason (BRI) is one of the few research institutes in the world devoted to finding causes and cures for autoimmune and immune system diseases"

Do you think it would make sense in my case to frame/describe it as "Chronic Fatigue Syndrome" secondary to Relapsing Polychondritis?

While fatigue is recognized as a Relapsing Polychondritis symptom, PEM is not. Any thoughts or advice?
 
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TrixieStix said:
@Jonathan Edwards

I've been thinking about how I should approach my CFS diagnosis with the RP specialist when I see her next month.

Do you think it would make sense in my case to frame/describe it as "Chronic Fatigue Syndrome" secondary to Relapsing Polychondritis?

While fatigue is recognized as a Relapsing Polychondritis symptom, PEM is not. Any thoughts or advice?
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I would simply say that you have fatigue and 'crashes', or however you would describe things in ordinary language, and that you had been diagnosed as having CFS. It is up to Dr Buckner to then frame things how she sees them. As a doctor it would not help me for a patient to say they had 'PEM' because this is a symptom seen through someone else's interpretation. It is much easier to work from the symptom itself. I suspect nobody has even thought whether or not RP includes PEM. PEM is a word never used outside the context of ME/CFS but it may well occur in lots of situations.

From my perspective, if you have clear evidence of RP then I would attribute all the ME-type symptoms to that. Autoimmune diseases can make people feel dreadful quite apart from whatever local signs they may produce.
 
I'm no doctor, but I'd be playing down the CFS angle as much as possible. Noting that was your diagnosis prior to the discovery of RP. And that you're guessing your new diagnosis probably supersedes that.

That's all completely true. And the less you say about CFS, the better you will be treated.

Speaking as someone whose CFS diagnosis has just been "overturned" for a new diagnosis, I can tell you from experience that this is true.
 
@Jonathan Edwards

Thank you for your input. It's very much appreciated. I too suspect that the symptoms the ME/CFS community labels "PEM" also occur in other conditions. Perhaps myself and some others in this group are proof of that?

Before I was diagnosed with or even knew about ME/CFS,
my husband and myself had been describing to doctors how I dramatically "crash" after mild activity or socializing, and that it takes days or sometimes weeks for me to recover from these "crashes" Doctors seemed to have absolutely no reference for such symptoms.

My husband recently watched the "Unrest" documentary when it aired here on public television and he told me that he very much recognized the "crashes" that is shows Jennifer experiencing as being like those he has seen (and helped) me go thru.
 
Was thinking tonight...how crazy that I was misdiagnosed as having a disease (me/cfs) that has no biomarker only to find out I actually have a different disease (RP) that also has no biomarker.

How many known diseases (excluding mental illnesses) are there that have no known biomarker?

Should I start playing the lottery? ;)
 
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