Staying Sane while Seeking Diagnosis?

7 posts in this topic

Hello all! I'm in the process of being evaluated for autoimmune/collagen tissue disorder issues and I'm looking for any guidance or words of wisdom from those who may have experienced a long and trying journey to diagnosis. 


I'm seeing a rheumatologist that specializes in scleroderma, and I'm awaiting some blood work that may point us in that direction. They are also testing for lupus and checking my liver and kidney values. 


My medical history in a nutshell: I've spent the last 10 years bouncing around to different specialists. I have symptoms and diagnosis that run the gamut of bodily systems, but the big ones for me are:

  • Autonomic Dysfunction (neurocardiogenic syncope, inappropriate sinus tachycardia, postural orthostatic tachycardia syndrome, low/high BP, low/high HR, 
  • Neurological issues (migraine aura without headache; vision and hearing loss)
  • Cardiac issues (mitral valve prolapse)
  • Gastrointestinal issues (esophageal dysmotility, hiatal hernia, chronic inflammation of esophagus, stomach, and intestines)
  • Musculoskeletal issues (joint pain that wakes me up, stiff/frozen/painful joints  - esp. hands, muscle scarring)
  • Skin issues (rashes, hives, cystic acne, easy bruising, red splotches, reaction to heat)

I feel super lucky that I'm still able to function relatively normally, but not knowing what is causing all of this has been incredibly frustrating. Now that scleroderma is on the table as a potential lead, my normal mechanisms for coping are failing me. It's a pretty scary thing to think about, and I'm trying to prepare myself for the long and frustrating reality that I may not ever have a final diagnosis. 


For those of you who endured a long journey to diagnosis, how did you handle the waiting and find the patience  to accept the possiblity that you may not get an answer? How did you prepare yourself for the possibility of hearing that scleroderma was responsible for your medical issues? 


I'll continue to read more on the forums, thank you all for sharing your journey!

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Hi Brianala,


Welcome to these forums!


I'm sorry to hear that you've been experiencing so many worrying health problems and it must be very frustrating to have been going backwards and forwards between rheumatologists without any resolution for the last ten years. Unfortunately, autoimmune diseases like Scleroderma and Lupus are very frustrating and difficult to diagnose, not least because the symptoms vary so much between sufferers. I'm pleased to hear that you are consulting a rheumatologist that specialises in Scleroderma; we do recommend that our members, if possible, consult a Scleroderma expert, for as you have observed, it's hard enough to obtain a diagnosis for this complex disease, without consulting a specialist. I was very fortunate (or unfortunate, depending on your point of view ;) ) in that I developed classic lung involvement which enabled my consultants to arrive at a speedy diagnosis, but I realise that I was very lucky and in the minority, as the average time it can take to obtain a diagnosis is, I believe, six years. I was also very relieved when I found out that I had a reason to explain why I had been feeling so poorly, albeit that it was Scleroderma, as I had foolishly googled my lung symptoms and had convinced myself that I had idiopathic pulmonary fibrosis. :rolleyes:


I do hope that you will be able to obtain a diagnosis from your rheumatologist, once all the details of your blood tests and other test results are obtained and he has a more complete picture.


Kind regards,

Jo Frowde

ISN Assistant Webmaster

SD World Webmaster

ISN Sclero Forums Manager

ISN News Manager

ISN Hotline Support Specialist

International Scleroderma Network (ISN)

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Hi Brianala,


Welcome to the forums. I'm really glad you found us. It's a great place to find accurate information, people who truly get what you're going through, and just have friends to vent to.


I'm sorry you've had such a long road. Mine was actually quite short, as I found a doctor that went for it when it came to testing, and when you do that type of shotgun lab work something is bound to come up. Unluckily for me it was Scleroderma. I do know many that have gone on for years without pin-pointing an exact diagnosis, and I know it can drive a person batty, so I'm really sorry that is where you find yourself. However, now that you are seeing a sclero specialist, you may find that is about to change. 


Jo gave you a couple of very good links, I hope you find them helpful.


Please do keep us posted won't you? 

Warm and gentle hugs,



ISN Support Specialist

International Scleroderma Network (ISN)

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Thank you so much for the welcome, and thanks for the links to more information! I'm trying to be very pragmatic, as I understand there's so much variability in symptoms and diagnosis is more a matter of exclusion. 


This is the first time I'm actually seeing a rheumatologist, as opposed to my general practitioner, cardiologist, neurologist, or gastroenterologist so it's very tempting to want to feel like this is the opportunity to find the "grand unified theory" of my medical issues! 


I find myself in the strange position of hoping that they find something that would explain it all, rather than another set of inconclusive results, even though the best case scenario should have me finding nothing wrong. Does that even make sense? I suppose it's a desire for validation that I'm not going crazy, and that it's not all in my head  :unsure:


The more I read here, the more comfort I am finding that a diagnosis of scleroderma is not necessarily as scary as I initially thought. It's helpful to see the realistic picture of the experience of patients here. Thank you for providing that perspective!

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Hi Brianala,


I think it is about time I joined in here to give you an idea of the other side of the diagnosis story :wacko:.  I have Limited Systemic Sclerosis with no skin involvement.


I am 70  and have been diagnosed since May 2003, 11 years now but my disease history goes back a long way before that.  I know for sure that I started with Raynaud's attacks when I was 22 and I also started experiencing Migraine headaches.   However, now that I know a lot more about Scleroderma and have talked to lots of doctors, it probably started with a severe attack of colic when I was about 11.


The disease moved slowly for all those years in between, in spite of the fact that I asked every medical person I came across if they knew just what was going on.   I got a lot of shrugged shoulders and funny looks and like you I began to think it was all in my head.  I never ever saw a rheumatologist, nobody ever suggested it, computers were a very new thing which we used to play games and create greeting cards :emoticon-dont-know: .   So there was no way for me to do any research for myself, and anyway I was too busy being a Mum and trying my best to cope from day to day.


In 2003 I was advised to visit a Vascular Clinic at the hospital because of recurring ulcers around my ankles, and it was the doctor I saw that day who put all my symptoms together and suggested what it could be. In the next breath he suggested that he was likely to be wrong but I knew from what he had described that he was right.  


Rather than being a shock to be told, it was a hallelujah moment. :yes: :yes: :yes:   I can't say I don't wish I didn't have this thing to put up with, but the relief to know what it is was huge.


I hope your journey from now on is not too long and arduous but you will be so relieved when you get a 'label' to tie on to this beast you have with you.


Lots of hugs and good wishes and Kia Kaha (be strong) from the upside down side of the world.



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Thanks, Judy! I am kind of hoping for that hallelujah moment of my own!


I go back in a few weeks for a follow up, and hopefully the bloodwork results will show something that will give us a lead. This is feeling like such a very long wait already!

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Hello Brianala


As awful a diagnosis as scleroderma is you already know that the diagnosis of no is even worse so should you get a scleroderma diagnosis it won't seem as bad as it actually is...until later! Seriously whatever you are dealing with you want the correct dignosis not a quick but ultimately wrong diagnosis.


Should you actually get a connective tissue disease you already know where we are so you're ahead again already and now that you've started you must keep us informed.


Take care and keep posting.

Amanda Thorpe

ISN Sclero Forums Senior Support Specialist

ISN Video Presentations Manager

ISN Blogger

(Retired) ISN Sclero Forums Assistant Manager

(Retired) ISN Email Support Specialist

International Scleroderma Network (ISN)

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