I feel dismissed ... and need advice
Posted 30 July 2012 - 05:59 AM
I'm new here and need some advice from people who have been diagnosed with various forms of scleroderma. I will try to make my 'story' as short as possible.
About 15 years ago, I was diagnosed with subacute cutaneous lupus via a biopsy of a rash on my back. I also had a small rash on my chest at that time. I saw a rheumatologist; I had a positive ANA (I'm not sure how high it actually was then) . He assured me I was 'fine'. I went on my way for the next 12-13 years and didn't think much about it. I had intermittent cervical node swelling and had periods of extreme fatigue, but as long as I 'respected' that and slowed down about, I would feel better in a few days.
About two years ago, I developed terrible choking, to the point of people looking at me with horror if I was out in public when it happened. My friends and family were very concerned. I went to an ENT specialist and he immediately diagnosed reflux. I never had heartburn, so I was amazed. It ended up being called laryngopharngeal reflux (silent reflux) as both of my sphincters (both upper and lower) were dysfunctional and the acid were actually go up into my throat and lungs. I had a BRAVO study done and my gastorenterologist said it was one of the worse cases of reflux he had ever seen. I also had a gastric emptying study done, which confirmed gastroparesis. I ended up having a Nissen fundoplication performed, but my symptoms (choking) have continued and recently have gotten worse. I am also experiencing chest heaviness and feeling winded with even slight exertion (just standing up from a kneeling position can make me feel 'winded', though I do recover from it quickly.).
Around the same time, I developed severe diarrhea. I again saw my gastro doctor and we did a colonscopy. The biopsies came back as lymphocytic colitis. Since that time, it has waxed and waned. I can have severe constipation for several days and then diarrhea and then back to constipation.
Also, in the last year, my right index finger has started swelling up, especially in the morning. Both hands/fingers feel tight and constricted. I have also started developing telangiectasias, mostly on my arms and hands. Some are just tiny spots but others are as big as a pencil eraser. I also have a few on my face and earlobes.
Recently, I went to my dermatologist for an entirely different reason. I mentioned to him that the rash on my chest had gotten huge over the past few years. It didn't really bother me, except it looks funny, but it was growing. He decided to do a biopsy of it and it came back as 'probably early morphea'. I didn't even know what that meant, so I looked it up and found out it was a form of scleroderma.
As I researched the type of scleroderma, the hair on the back of my neck went up. I had so many so many of the symptoms. I wanted answers. Maybe I had an 'overlap' condition, maybe I was misdiagnosed way back when, etc.? I did have an ANA run by my primary care physician and it came back negative.
Here comes the 'dismissed' part of my story.
I do not want to mention the name, but I was referred to a very prominent scleroderma physician and saw this doctor on Friday.
He looked me over fairly briefly (he even forgot to look at my chest rash until I had gotten all dressed, so he asked me to remove my clothes again to take a look at that.) He looked at my fingernail capillaries and said they looked 'pretty good', and then said I just had 'localized scleroderma' and even that was questionable. Nothing else really to be done except maybe participate in a 'gene study' they had going on for morphea.
I asked him about all my other symptoms and conditions that had developed in the last two years, and he said well, 'gastroparesis can cause reflux', and I should increase my Reglan use. Okay. But WHAT caused the gastroparesis??
I asked him about the lymphocytic colitis, and he said 'inflammatory bowel conditions' are not really connected to scleroderma. I know the internet can be a dangerous thing but that's NOT what I see in everything I look up about this rarer form of colitis. He also added that most scleroderma patients suffer from constipation NOT diarrhea and I just wanted to yell, "I just told you I suffer from constipation at times, not having a bowel movement for 3-4 days at a time. Are you not listening??". He told me I should contact my gastroenterologist about the constipation.
He also added I shouldn't drink 'so much coffee' (I had a cup of coffee with me during the visit) because that adds to reflux (did he forget I had a Nissen done?). I was floored. He never even asked me how much I usually drink. I only had a cup with me because I had traveled a few hours to see him and was tired for the late afternoon appointment. On most days, I only have 2-3 cups the entire day.
I don't know ... I walked out of there with confirmation of every fear I had going in. I am NOT looking for a diagnosis of scleroderma; I just wanted answers. I worked in health care for 20 years and I needed more from him, if this doesn't fit a scleroderma diagnosis. Is this all just a coincidence? I totally respect that he is an 'expert' but I felt totally discounted and was not given an adequate answer to assure me that all these symptoms are not something autoimmune.
Is there anyone out there that has any advice, any comments? I am totally willing to listen. I just need someone to talk to me.
Thanks for getting to the end of my long, probably boring story!
Posted 30 July 2012 - 09:59 AM
Welcome to Sclero Forums. I don't know where to begin in answering your questions. But I do think we should hit the Pause Button for a moment to say 'congratulations' on your diagnosis of Morphea.
I would imagine that by now you have read about the great divide between morphea (localized) and systemic scleroderma. And then of course we have our (very rare) example of Amanda, who has both morphea and systemic. It appears from recent studies that the folks with morphea who are most at risk of developing systemic are those who have the anticentromere antibodies. Then again we have our chronic rule-breaker, Amanda, who I believe doesn't have the proper textbook antibodies, either.
A weird thing is that morphea is so seldom associated with systemic, but some people with morphea are wrongly obsessed with the idea they will develop systemic, so some doctors have a knee-jerk backlash, trying to shoot down any similarity or possibility.
The thing is, though, if you read up carefully on morphea, on our page on Conditions Associated with Morphea, you will see that about 25% of patients develop symptoms outside of just the skin involvement. I quote from that page,
"A 2003 large multinational study found that 25% of localized patients had at least one other manifestation, such as osteoarticular, neurological (epilepsy, headache, peripheral neuropathy), ocular, vascular, gastrointestinal (heartburn), respiratory, cardiac, or renal. Less than 4% of the morphea patients had more than two non-cutaneous (non-skin) manifestations, and none of the patients in the study developed systemic scleroderma during the follow-up."
So it's possible that your gastroparesis may have been caused by the morphea, however, there are many possible causes of gastroparesis and scleroderma is the rarest of the list of possibilities which is likely why the rheumatologist would dismiss the question.
The thing is, autoimmune diseases in general are notoriously difficult to diagnose, and diagnosis of systemic scleroderma takes an average of six years for women (three for men with the same symptoms), and it depends heavily on symptoms such as skin tightness and pulmonary fibrosis, and since you don't yet mention Raynaud's, you may be fortunate in averting that possible diagnosis.
That's not to say there's nothing else autoimmune going on. It's only to say that these things are much harder to sort out, and take so much longer on average, than any of us can even imagine.
Regardless, I'm sorry that you felt slighted by the visit. Obviously there was some lack of listening and compassion plus it sounds like a bit of irritation was thrown your way, as well. You deserved some more in depth explanation about the differences between morphea and systemic, some understanding as to why you were worried about it, and some guidance as to how to move forward with your health care. It sounds to me like all education about morphea, including its treatment and possible complications and associations, was overlooked entirely, which is a shame, too.
You have found us, though, which is great. I hope you can find comfort and friendship in our ranks. As for diagnosis issues, I always try to comfort myself with the slogan, "The truth will come out in the end." I am sure we all feel the same, that all we want is the truth but that can sometimes seem to be a very elusive thing in the mysterious world of autoimmunity.
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Posted 30 July 2012 - 12:24 PM
Thanks for your reply.
First ... yep, I should have mentioned this above and just forgot (tho' I did tell the doctor) ... that about 2 years ago I developed Raynaud's in my fingers. About a year later, I noticed it in my toes too. It really freaks people out ... and I just thought, "Oh well, I'm getting older". So yes, I do have that too. I also told him that in the last year or so, I have found my endurance level to be basically nil. I am so fatigued (not sleepy) and my body feels like ... ummm ... like I'm walking through water. Heavy. Weighed down. I can't explain it much more than that.
We talked about the 'sine' version of scleroderma ... and he said that's not possible for me because of the morphea, I.e., I have 'skin' involvement. Then he said, "Plus people with morphea don't develop systemic but people with systemic CAN develop morphea". I wanted to ask ... does one always know which came first, the chicken (morphea) or the egg (limited or diffuse)? I only ask because some of these things (like the gastroparesis and reflux) could have been brewing for years before it became symptomatic in me with the choking.
I just feel frustrated .... and alone.
Thanks again for your reply. It made me smile.
I don't know. Again, I'm not begging for a diagnosis .... just for answers (that make reasonable sense).
Posted 30 July 2012 - 01:40 PM
Welcome to these forums!
I'm sorry to hear that your appointment with the Scleroderma specialist was a disappointment and that you're feeling very worried and in need of some help and information.
As Shelley has said, unfortunately the correct diagnosis of Scleroderma is notoriously difficult, not less because it presents itself in so many different ways. I have fairly classic lung involvement signs, Raynaud's, swollen joints, but thankfully no major gut involvement and was very fortunate that I was referred to knowledgable consultants who were very familiar with Scleroderma and were able to confirm the diagnosis quickly, for which I'm eternally grateful!
I believe that Amanda (whom Shelley has mentioned in her post) developed Morphea first before going on to develop Diffuse Scleroderma (you can read her Scleroderma story here and also her fantastic blogs here which I'm sure you'll find very interesting.) Unfortunately fatigue, such as you describe, is a feature of autoimmune diseases; many of our members (including myself, until I started on my medication) do suffer from this very debillitating condition.
I'm very pleased that you've found our forums and joined our community where you will find a wealth of help and advice and I do hope that you will keep posting and will no longer feel so isolated and alone.
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Posted 30 July 2012 - 04:24 PM
Welcome to the forums!
I am the weirdo who started out with morphea, then developed diffuse systemic scleroderma, then developed bullous morphea and all the while my blood work is negative for anything, even my rheumatoid factor is normal! I got diagnosed with systemic scleroderma first because by the time I was diagnosed I had 60-70% skin involvement.
As Shelley said a small percentage of people with morphea can also have symptoms outside of skin involvement but this doesn't mean they will go on to develop the systemic form of the disease.
I also agree that the doctor you saw handled things poorly and had they been different you would be here to share your story rather than seek answers that should have been answered during your consultation.
I also agree that you're ahead of the game in that you do have a diagnosis to work with, many people get bounced around from doctor to doctor for years before they get any sort of diagnosis so I'd go with what you've got for now. I understand that you would like a diagnosis that includes all your symptoms, it's just easier to deal
Take care and keep posting.
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Posted 30 July 2012 - 04:41 PM
Your story and range of symptoms will sound familiar to lots of us, and Shelley's post is a pretty fair assessment of what can or can't, will or won't develop.
I personally started with Raynaud's 46 years ago and in fact have only been diagnosed for just under 10 years. After the Raynaud's it was at least 20 years before I started having bowel irregularities, and then a few years later trouble swallowing and was told that I had reflux although I had never noticed it.
I think that think important thing is to find a doctor who is sympathetic and understanding, not easy I know. My personal response to the man who told me that it wasn't worth doing anything because I had Pulmonary Hypertension which was untreatable, was to find somebody else pretty quick!! As a result, my PH has been treated (it was caused by Rheumatic Fever NOT Scleroderma) my bowel incontinence is a work in progress, and in general I am feeling a whole lot better about everything.
Don't be put down by a man who was possibly having a bad day, take control and stick up for yourself. In some ways it doesn't really matter what ails you exactly, it is what it is and all we can do is seek out the best help we can find.
As an aside, what I was told about bowel irregularities is that alternating bouts of "constipation" and "diarrhoea" are two parts of the same thing - namely Constipation.
Warm hugs and best wishes,
Posted 31 July 2012 - 03:57 PM
WELCOME!!!!! I am SO sorry for your feeling of dismissal, I too as you know have had a similar visit with a "sclero specialist" and left feeling much of the same way. I do know what I have but was told I would start getting better.. Well I'm still waiting for that part!! This is a wonderful group of people here and there is always someone who can relate to what you are going through! I don't know much about Morphea, I don't know much about Limited Systemic Sclero.. and what I did think I knew this "specialist" totally blew out of the water. Just know that we are here, to answer your questions when we can, give you support and listen to any "rants" you need to scream out!! I am really glad that you found us here and especially ME!!!
Take care of yourself
Posted 01 August 2012 - 11:32 AM
I hope you find answers soon, sweet one. Enough is enough and too much is nasty. See my thread about my trip to the sclero clinic. I truly want the input of those who are not doctors but are there fighting in the trenches.
Posted 03 August 2012 - 10:57 AM
I'm sure you felt your balloon pop, when you had expectations leveled, by the time your appointment was done. However, please rest assured that the doctor you saw, may just have taken IN more than he verbalized...to you; I really think it would be scarey to see the "cogs turning" in the heads of our doctors as they examine us ! As was mentioned, he may have been having a bad day; I'm not making concessions for him, yet I also know that I've made judgements on doctors I saw the first time, who turned out to be my best doctors; however, I know it doesn't always turn out that way, but we can always hope?
At any rate, I know how anxious you are to have an official diagnosis, or at the very least, get the answers to your concerns/symptoms that are presenting. Judyt has said that diagnoses can be very elusive, particulary when it comes to honing in on that particular diagnoses; there are folks on these forums who have gone undiagnosed....for YEARS!; to Judy's point, she stressed that, more importantly is to receive treatment for our symptoms, if the diagnosis doesn't come about easily.
Of course, we all are experiencing, or have experienced the frustration you are; just know that if/when the time comes, you will know, when the doctor(s) knows .
In the meantime, I am so glad you are getting to know some of the folks on here; there are so many wonderful people who offer such great support, as well as share their experiences.
Posted 03 August 2012 - 09:09 PM
I'm fairly new to all of this and don't have much of anything substantive to add to the good responses you've already received. I don't know if I missed this but are you in the US or UK (or another country)?
I'm in the US and I know exactly what you mean about feeling dismissed. I was lucky to have a good rheumatologist where I used to live but since I've moved to a different city, it's been ridiculously difficult to get good care. In the beginning, my rheumatologist diagnosed me with Lupus and left open the possibility of mixed connective tissue disease because the sclero. test SCL-70 was repeatedly positive. I had no real sclero symptoms except Raynaud's.
Since I moved away, though, I've developed worsening GERD and esophageal problems plus swollen hands and tightening skin. I'm blessed with a good internist who says she thinks I have MCTD over Lupus and my gastroenterologist has told me my GI problems are autoimmune and point to sclero.
I'm waiting to see a new rheumatologist who just moved into town but I have that new doctor dread and fear being dismissed. It's happened time and time again. The last joker said he just wasn't seeing anything and decided I needed to go off all of the meds my first rheumatologist. put me on so he could "see what happens." Needless to say, I got extremely ill and wound up in the ER. I absolutely hate having to start over with new doctors and I wish the majority of them were competent and compassionate. Unfortunately, I've come to believe that isn't the case.
I hope you get answers and good care!
Posted 04 August 2012 - 02:39 AM
I have just read this post after answering yours on the other thread. My wish that you will get good advice is doubled after reading this!! We will keep our fingers crossed that this new person is easier to get on with.
Double good luck wishes
Posted 04 August 2012 - 08:07 PM
Sorry to go on. I just know exactly what proudtabby means and what she's going through.
Posted 08 August 2012 - 01:36 PM
Let me join in and welcome you to the Sclero Forums. There is nothing more frustrating to me, then feeling like I'm dismissed by a doctor. Shelley gave you a wealth of information, and perhaps reading through her links, you can formulate more questions for when you return to see your rheumatologist.