Hi, I think I finally found a doctor who understands bechets: I have a meeting at the end of the month after 30 years of mucking through this forsaken swamp so we'll soon see. But, have any of you been to the doctor for bechets only to find out you have relapsing polychondritis? My current doctor suspects bechets, but because of reoccuring, severe laryngotracheal inflammation I myself am leaning towards relapsing polychondritis. Usually going to any doctor just makes me feel like a dimwit...
Bechets vs. relapsing polychondritis? - Behçet's UK
Hang on in there. You have walked the trail and are an inspiration to others.
Well, I’m reasonably sane so far 😄 What I’m up against is a lot of doctors thinking I’m a hypochondriac, one who is starting to feel I actually have valid points and hopefully one who can answer my questions. The doctors feel I have difficult questions, but I tell them the easy ones I answer myself. They say Behçets and RP usually come to light in your later decades. I’m arguing that they actually creep up on you earlier and it just flares out more aggressively later. I’d like for research to start taking heed of the patient’s earlier years also, because I feel a lot of us get pinballed from doctor to doctor unnecessarily. I’m also starting to feel it/they are autoimmune issues that have to do with collagen. Modern research is diving in to see whether Magic syndrome is actually two separate conditions manifesting differently.
You do right to question Dr's I do this all the time but I really have had to leant to listen to everything they have to say, and ask questions when they have laid everything out on the table, it is then I am more confident in questioning their ideas, opinions, diagnosis whatever they tell me. I do this because they have to then sit there and reconsider what they have told me, it's essy for me to sit there and do some if their job fir them but sitting back a little makes me feel better and know I've done my homework, I present medical papers, my history, other consultants opinions on topics outside of their own remit which is frowned on especially when I feel another consultant is right. Take hold of absolutely every single appointment with whatever consultant you can get to see with both hands, see as many as you can, asked to be referred when you have consultants second guessing an area outside of their own expertise, ask to see consultants when the person you are sat in front of does not have any answers, I can hear myself now saying "so you really have no idea what is going on then perhaps now is a good time to refer to a xyz specialist who might be able to give me a better explanation.
Like you I spend 40 years managing something I hsd no idea what I had, I was young, energetic and was able to function, hold down a full time career which I absolutely loved, I kept coming up against stranger things happening to my body and nobody knew what wss going on, I took photographs, I saw so so many consultants nobody ever ever put all the dots together, sitting in front of a rheumatologist in 2016 asking why oh why do I still get these oral and genital ulcers he ssid sorry I have no idea, you do have EDS and Costochondritis but no ulcers associated with these... 12 months later after I myself eventually found the name Behcet's it was ghe biggest light bulb moment in my live, it was like writing my own story only I did not have uveitis, went along to ghe GP said no way, gave her one sheet of paper a summary of Behcet's and how some people do not have eye issues, and another piece of paper with all the dates times, number of ulcers, other body issues, plus dates of types of consultants seen to date, she asked do you want me to refer you... well of course, soooo 12 month to the date I saw another rheumatologist in the same department and she agreed with Behcet's, carried out a whole load more tests, repeated tests from previous times znd she still continued to say Behcet's.
So take anything you can from the medical profession and with each consultant who you see make notes, compare, reiterate in front of other consultants the words of whoever you have seen so it appears sometimes it's not you questioning their work.
Good luck with your appointment let us know how you get on. And I do have to agree the collagen area is an area I really wish could be investigated much more.
Thank you, gillianTS for your reply. I will definitely get back to you to what's being said. Like you I have taken photo's, written health diaries, read studies, learnt as much as I can about autoimmune issues, because it seems they are very poorly understood. And many doctors make the mistake of saying you can't have something, because it's rare. Somebody has to have it to make it rare, otherwise it would be non-existent. I also very often get dismissed, because the doctor hasn't heard of what I'm telling him or her. They just want me to go away and hope the next patient has something they can measure and medicate via a lab test. I have studied the collagen path partly because I have hypermobile EDS. But I also have a looong list of odd waning and waxing symptoms, such as costochondritis. And I've noticed many here have a combination of Bechets and some form of EDS. Since I have been so fed up with doctors this time I asked for referrals: I asked my current doctor to ask colleagues, I asked the Rheumatalogy Association and did my own googling. We all came up with the same name (non UK) so I'm really exited to go this time to the doctor. I have hopes of a better medical path, but will settle for decent answers.
I truly think you are right in that people just want you to disappear and hate it when asked how many other patients do you see who have Behcet's and do any of them have EDS too, I know I am one of 2 possibly 3 patients at this hospital, one I know of from this group and the other I only know about because one of the rheumatologists I saw mentioned another lady who has removed many food groups from her life and was trying to manage her Behcet's drug free...
What kind of specialist doctor will you be seeing?
A rheumatologist specializing in Bechets. I have been to a rheumatologist before on a hunch, but since that was all I had I came back empty handed. Since then I’ve been meeting with a physiatrist since a lot of symptoms have had to do with physical aspects. He’s the one who actually took the time to come up with Behçets. He said he’s not skilled enough to make a diagnosis and for me to document everything. I just hope this doc knows enough about Behçets and other autoimmune diseases to carry a fruitful conversation. The irony of it all seems to be that since I’ve been very prudent about taking good care of myself my condition hasn’t deteriorated fast enough for anyone to give a second thought: it goes slow, but steady. And it doesn’t come up in bloodwork in any conventional ways. Now as I’m going into my 50’s age has given this thing a kick in the behind and I can’t keep it in check anymore with what tools I have.
My blood work never shows inflammation markers either so taking pictures is the only way I find possible of proving this, it's always the way you get your appointment and you are feeling good... I am sick of the times I get 'oh you're looking well today' now I just say you want to be living inside of my body 😋 It's hard finding specialist who have experience with all aspects of Behcet's and not just the ulcers and eyes, the pot of other associated problems is very often overlooked, my rheumatologist ssid a couple of months ago when asked about headaches and migraines and Behcet's she said she did not think they were associated, I had been advised by Neurology to start taking daily tablets to help what they believe is migraine, my rheumatologist seemed a little put out, at my next appointment a couple of weeks ago she questioned who had put me on the prescribed tablets... it is hard work.
Like you hitting 50 seemed to trigger a huge flare up something I had not experienced before, nobody knew what was going on and just got shuffled here and there for anoth 3 years...
Good luck with your appointment, how long do you have to wait?
The doc has a two month waiting list and I've been on it for about a month and a half. August 27th, evening. I'm really waiting to see if she has something sensible to tell me or is just a crockpot like the others have been. I am so prepared for this. Ps. I have had headaches and migranes all my life, but I asked for Lyrica 2x75/evening for a neuropathical cough and got rid of the cough mostly, but on the side my headaches went too.
I am behcets and primary hypermobility spectrum disorder (waiting for a diagnosis of EDS). Sorry to jump in but I would love to know about any links etc.
I'll keep you in mind while reading up on things. I haven't seen papers with Behcets and EDS, but some with collagen issues have passed through. When reading up on differential diagnosis between Bechets and relapsing polychondritis, collagen type II pops up: "The most strongly agreed upon hypothesis for RP disease process is that collagen type II and/or matrilin-1 act as the autoantigens triggering autoimmune inflammation ."
There is a debate going on whether BD and RP can fuse to be MAGIC syndrome or whether they are in fact two different syndromes. Here's where the collagen factor comes in. Most collagen mutations have been identified in the past years, but the hypermobile type is still to be identified.
Still, many posting here seem to have some sort of EDS going on and that intrigues me.
Ps. I find sugars/starches make you feel worse (potato starch, lactose, gluten) and leaving them out helps and makes me feel heaps better, but it doesn’t slow this thing down.
Okay, seen the rheumy. What did I get? 2hours and a whole lot of sympathy. But, I did get a promise not to be left hanging this time. We agreed on have bloodwork redone and the rheumy wanted to consult a colleague about my case and perhaps have a chat about getting me into a gene test to better understand what we’re talking about. About Behçets and relapsing polychondritis, yes, sounds like Behçets and yes it could be RP. It could be both: the jury is still out on that. Didn’t give me a whole lot to chew on that issue. I had lots of photos with! I argued that I have a whole lot of data also, I’m just not sure the people looking at the data knew what they’re looking at or for. When asked about family linage all it takes is for someone to come from somewhere else and even not so long ago for history to take a turn or leave a gaping hole in info. So I have some prescriptions and a little hope and I guess at this point that’s all I can ask for. ...although I did say, if this doesn’t get figured out I’ll google it myself and fill out “my prescriptions” at the nearest gym. 😂 Boy, they must love me! The saga continues...
Update: been on Medrol since the rheumy visit and have been better. Not good, but better. Tapering down on it now and my tongue has swollen and have teeth marks on the side (thyroid starting to go haywire next?). And lots of small bruises over my body, especially my calves. I slept really well with the higher dose, which was a lovely surprise. Woke up not groggy. It did tire me down during the day too. Now with the tapering bad quality sleep is back. I did get the rheumy to take me seriously after all and she got me forwarded to a rheumy hospital. They have a plan for me now. The working name before putting a stamp on it is MAGIC syndrome. We’ll see how this unravels. I’m quite waiting for it, because this constant feeling of fatigue, unwellness, flares and smirking from health professionals is quite consuming. It would be nice to have a name to what I’m dealing with. And then actually start to deal with it.
Have you only just started Medrol, just wondering why you are tapering down on the drug?
I get a swollen tongue and mouth frequently although the Azathioprine has helped but not fully so I'm left with soluble prednisolone to use as a mouthwash as and when required. I suffer from teeth clenching and the classic signs are scalloped tongue around the edges, I have no idea I do this as it just happens in my sleep, I now have to wear a mouth splint every night which has helped especially the pain in the sides of my face and head.
My coming off Azathioprine very briefly for 5 days triggered a big flare up but this was after a decision to take me off it immediately due to blood tests being out of range, once my blood tests were normal again I went back on it, the glitch was in my opinion put down to the contrast used in my brain MRI it was the only change in my life at that time...
Really hopeful your new referral will help you greatly.
I think it was a test for relapsing polychondritis. I think they wanted to see what happens when they put me on it and what happens when it's tapered down. There's a whole lot of "I thinks" left in the equation, but to continue with that, I think they have something planned drug-wise and I think I have gene testing ahead. I got a paper from the rheumy ward, which was I think (again) the first paper on my condition that consisted of any thought and planning. It consisted also of a whole lot of abbreviations I had never seen, which is good, because it's usually me going ahead to the docs with the new stuff and ideas. I checked them out and I agree on the direction we're going. So this is actually a refreshing change.
I see Methylprednisolone is given as a treatment for Behcet's too, maybe it would help you more if the specialist gave you all the details why they are doing this which would help you rather than you keep having to guess what she is doing etc. I know at lot of people go along with what is planned for them but I am the kind of person who needs to know everything otherwise I really worry myself silly.
Have you any idea when you are likely to be seen by the rheumatologist. And what about the reaction you are having now you are tapering off the Medrol are they helping you with this or offering something else.
Really hope you can start to feel better soon.
I got a paper from the hospital. It doesn’t say when, but it does have a name on who to see next and some plans and labs on what’s to come. It seems the working name MAGIC and ultra rare in the same sentence makes them very wary on saying anything. What I did understand was HA20, which would be haploinsuffiency, which does make some sense, because then we’re looking at interleukin-6 disruption, which would in part explain my recurring flu’s. There’s a whole lot of abbreviations I have to study up on. I agree with you about understanding things. At this point I understand we have an agreement on direction, but right now I don’t think I know what to ask before next meeting. I just hope it comes relatively soon. But, if nothing else, this might be a new learning curve for me and a chance to share some new knowledge with you.
So the MAGIC stands for ‘making good decisions in collaboration’ and looked at how to embed best practice in shared decision making. The rare I can only guess the specialist you saw possibly feels the rheumatologist is likely to help provide you with answers regards HA20
Having found a very good article about this I thought you might like to see this too, if you have not already seen this from the British Medical Journal and an even larger report from BMC:
1. 'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease’
2. Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease
My advice to you is to write down any questions you need to have answers to and do not be afraid to produce this at your appointments it's really important you get a full understanding of what your journey, as soon as you can afterwards write down any points raised from your appointments and the answers to the questions you raised.
Keep a diary of everything that is happening in your life right now an importantly catalogue everything that has happened previously, any tests, imaging, photographs, anything that might help who you are going to see. HA20 as you will already know I expect from research is very rare and very new, it's hard enough getting to see someone with Behcet's experience so you seeing someone who has referred you to a rheumatologist regarding this is positive and I truly hope the specialist you have seen is aware the rheumatologist will be aware of HA20.
I hope you can get your appointment quickly and some help soon.
Thank you Gillian! I’ll be sure to check these out! I think the trouble is that the rheumy I saw didn’t want to say anything before consulting a college. And I have a new specialist assigned for my next meeting, so I’m sort of in between doctors right now. But at least it’s progressing and they don’t think I’m looney anymore. The new abbreviations on the table might make more sense to you: HA20/TNFAIP3 and NFKB1. Then later on in differentials SAD, again NFKB1, CVID, LyDiff-T, Tdif-Fc, smB-Fc, IgGAME and TVK. And targeted inflammasomes. I’ll certainly study up on your links, study up on these abbreviations, document changes and just get ready for the next visit. I call it my Black Book that I can build upon, gather documentation. But the really good part is that my son will also be enrolled and get attention now and not later when he’s already shot to pieces with this. I always felt there was something wrong but had no idea that the odd pieces actually fit together.
Yes I understand why the specialist didn't want to say but this still leaves people in a dilemma, its always good to ssk them can these please just give a recap before leave which allows you to take on board what they are going to do but also it reminds them as well and it sounds like you had a mega appointment with lots of discussions.
The TNFAIP3 essentially appears to
be the gene associated with A20 (HA20) about tumor necrosis factor
signaling protein (cytokine) involved in systemic inflammation and is one of the cytokines that make up the acute phase reaction according to the following:
NFKB1 is genes not fully sure but mention suppressor of inflammatory conditions. The following states the reasons linked with Behcet's:
Only know SAD as Seasonal Affective Disorder (SAD)
Common Variable Immunodeficiency Disorder (CVID) is an immune disorder.
Not sure about: LyDiff-T, Tdif-Fc, smB-Fc, IgGAME and TVK.
The specialist is obviously looking for gene testing, not sure where you are in the world but here in the UK this can take quite a while to get appointment with genetics.
Oh, on the tongue issue, it started so suddenly I'm wondering whether the cartilage damage in my throat has advanced towards my thyroid cartilage. The Medrol might have calmed that, but now that it's being tapered down the flare has shown up in my thyroid cartilage and in addition to an electrifying throat sore my serrated tongue is a symptom also. That's my theory at this point, but I wouldn't be astonished to hear all this pain stress has made me start clenching teeth.
Note: neutrophils low, lymphocytes high. Again.
I have low neutrophils every now and then and no explanation.
I note from your profile which I took a look at thst you have Ehlers Danlos I do too.
I note very many on this forum have Ehlers-Danlos with many different forms. Mine is the hypermobile type. There might actually be a point to this HA20, because it seems to manifest earlier and be familial. Last time I met with the rheumy I had a 45min session booked. After a bit over 2 hours the rheumy said a colleague consultation is in order here and before they agree with me on anything they want to take more tests to know what they’re looking at. That sort of makes sense to me, because I don’t think docs have understood what they’re looking at so they leave me untreated. Read the links last night!
Yes a few of the people on this forum have EDS mine also involves hypermobile, sphincters the main issue I am aware of has been oesophagus, also have mitral valve issues, slight prolapse and regurgitation which is monitored every other year.
After reading about the HA20 it certainly reads as though the manifestation of ulcers etc is at a much younger age whereas mine and many people on here and other Behcet's forums it starts in mid teens or later, I wonder if it could be as simple as that in determining the two conditions...
I have trachea issues. It’s like having chronic, recurring bronchitis. I lose my voice for weeks and I fear one day it will never come back. This is something associated with relapsing polychondritis and the collapse of the collagen in the throat. My back is shot and I have all sorts of migratory joint pains and osteoarthritis (failing collagen? -> EDS). The mouth ulcers were fairly rare when I was a child, but then suddenly flared out later with a vengeance. My son has issues that are very close to HA20, but also complains of throat issues, nausea and eye pain. Conjunctivitis and bright light sometimes hurts. They’re calling HA20 familial BD. May ED/EDS actually be more of a symptom in BD/HA20? Mutation-> collagen failure -> varied symptoms? I’m arguing that fibromyalgia might often also be more of a symptom than a diagnosis of something else. So depending on which cell/gene fails you either get a symptom or diagnosis. In that point of view, gene testing makes good sense.
Have you noticed if Hashimoto’s thyroiditis has popped up in this forum's posts? I noticed it in many HA20 articles. I found a good article on Pubmed
No I have not noticed, doing a search of the Behcet's forum provides just 3 historical references:
I do think there's a lot of cross over with me with Behcet's and EDS. You sound like you are having such a bad time with both conditions.
Right, so I had a consultation today with a new doctor who turns out to be and internist, who has researched HA20 and genetic/biological medication. So ok, fits the bill. We had a long talk about diagnosis diffentials and started from the bottom with him telling me that there's these syndromes/diseases called Bechets and Relapsing polychondritis... I tried my best to be diplomatical, but still hurry up the conversation between first there was an egg and then there was a chicken... We always run out of time. To make a long story short, a) some of the tests they took two weeks ago are off: I saw them today and the Medrol I've been taking to breath skews them. Luckily, some of the same tests had been taken a couple of weeks earlier. b) the same diagnosis are still on the table (B., RP, magic and other?), but to be able to make a targeted care plan and for the new meds (undecided) to work they want to know exactly what we're looking at. He says HA20 is "fairly common"? HLA-B5 comes out negative, but he says it mainly pops up near the silk road c) differentials consist of ruling Crohns out also, clarifying inoculation response (autoimmune), differentiating via inflamed tissue biopsis and genetic testing due to the fact that my son also likely has it and nobody really knows how Bechets and RP react genetically. Treatments would most likely include Medrol(dosage?)/Azathioprine/biological medication. Okay, sounds like a plan.
What kinda gets me, though, is the fact that my windpipe is on fire, my voice is gone and I have chest pains, but they are very reluctant to do anything about it and the it'll go way past new years until we have this wrapped up. I get the fact that they're scared to prescribe pain killers, but if someone had a headache for months on end there would be some sort of reaction. When pressed, I did get them to cut down process time from 6 months to 2-3 months. I guess what I'm getting at here is that if something is a rare thing it's okay to leave the patient hanging? I had a talk with the doc also about borderline diagnosis: if a diagnosis isn't as clear, it's still a diagnosis and to be dealt with, but that's what leaves docs edgy. I'm thinking this is a global issue. But for something to be rare someone's gotta have it and for that someone it's a very subjective thing: my throat and windpipe hurt like crazy whether he likes it or not. So any of you who are out there at seminars and symposiums, ask the question of equal care: we don't get to choose what diseases/syndromes we get.
Today is full of all sorts of tests. I fear they are astma tests again masked as something else, because they know I’ve had it with astma tests. Anyhow, I’ll jump their hoops as long as it keeps the ball rolling. Went off Medrol and I could feel every pain in my body coming back. Got bronchitis and have been treating that and an ongoing costochondritis with a pulse of Ibuprofen so I don’t mess up the oncoming tests. I miss Medrol. Today labs again, spirometry test and vaccination resistance tests. Next week metacholin exposure test and chest CT-scan. Doc appointment on New Year’s Eve. The receptionist sounded surprised when she offered me that date, asked me if I can make it and I said hell yeah!
Oukki-doukki, so, last September I had high hopes this will go somewhere, forward somehow. Nope! I was run through a whole lot of tests I knew to start of with would yield nothing. And that's excatly what they did. I March I had a new meeting with the doc we started off with and he just said that, well, they can see all the signs, but they have no idea what it is so they'll do what I asked if they would do to start of with was to get the symptoms in control with steroids (Medrol) and ease azathioprine into the equation. Here's the prescriptions, now go away and we'll see in the fall how you're doing, goodbye. Okay, hold on, I agree with the prescriptions right now, but I'm not ready to give up on this. Mexican standoff. Fine, they'll let me go to genetic testing, but you have to go away now. So, now I have been chalked up for genetic testing, but for what I don't know. If I'm guessing right, the doc doesn't know either yet. Which means I still have time to give them a couple of ideas. This spring I fainted once at work while standing (never done that before), had lupus like rashes (a flaming red one at the back of my head, note: lavender oil works, noted by accident), an upset intestine (the azathioprine helped) and a never-ending headache. I left out the steroids once and got my throat sore back and a really raspy voice and you can fathom in your heads how clients respond to a hoarse voice nowadays...
So yeah, I got nothing. Nada. What I got is time to work on this more by myself which bugs the hell out of me: what the hell are doctors for??? Someone remind me, 'cause I'm not sure anymore.