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I'm New Here - 15 Years and No Diagnosis!


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#1 Wilson

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Posted 16 June 2016 - 04:37 AM

Hello,

 

I am new here and excited to be able to post a message.  Yes, my subject line was not wrong - I can hardly believe it myself that it has been 15 years and still no diagnosis. 

 

It was 15 years ago I developed Raynaud's, heart arrhythmia's, esophagus spasms, and a bunch of other symptoms consistent with scleroderma or a similar disease.  I received several individual diagnoses of these things throughout the years but never a unifying diagnosis of an underlying disease.  Throughout this time my bloodwork has always been completely negative and I have no skin thickening - yet the disease is still there.  Unfortunately now after all these years I am concerned that some organ damage is showing up on my test results.  I recently had an echocardiogram that showed that my left atrial is enlarged and the filling pressure on the left side of my heart is borderline-high.  Although my doctor stopped short of saying I definitely had diastolic dysfunction, from my research it sounds like DD is certainly possible.  Also, over the years my kidney blood urea nitrogen levels have gradually and steadily risen and were now at 20 at last check - which is at the absolute top-most normal value and is up from a reading of 7 or 8 when this all started years ago.  I am very thirsty and my face feels puffy when I wake up in the morning.

 

For my first few years it was very difficult mentally for me to be living with an honest-to-goodness disease that could not be found or diagnosed medically.  Ultimately though and over time, I reluctantly accepted this fact and just tried to ignore my symptoms as much as possible.  But now with test results showing possible heart and kidney damage, it is pretty hard to just ignore it anymore.  After all - how can they find the damage the disease is doing but not find the disease itself!  I am an adult male so if I have scleroderma or a related disease I am already in a minority by a long shot!  If, on top of that, I have only the internal form of scleroderma which also happens to be completely negative on all blood tests - then good grief how unlucky would I have to be for all of that to be true!  My chances of winning the lottery are probably 1,000 times better than that!  :lol: 

 

I guess I just wanted to introduce myself and share my story.  I know there are many other people on this site who physically have had things much tougher than I because despite my ailments, overall I do not feel too bad.  My biggest challenge so far has been the mental side of things - living with a chronic disease that defies diagnosis.  Without that diagnosis, my doctors do not and cannot connect the dots with respect to my various problems (Raynauds...heart...esophagus...etc.).  And without that diagnosis I cannot definitely tell any family or friends what is wrong with me - that there actually is a name for what is happening to me!

 

Thanks for listening and thanks for this website.  If anyone can relate to my predicament, I'd love to hear from you.  Also, it is hard not to be fearful of the future when you know your heart is enlarged from this disease.  Does anyone know if you can still live a long time with an enlarged heart or diastolic dysfunction - if that is what this turns out to be?

 

Take Care...



#2 Shelley Ensz

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Posted 16 June 2016 - 11:36 AM

Hi Wilson,

 

Welcome to Sclero Forums!  I'm glad you found us for support as you continue to deal with the question of whether or not you have an underlying disease that is causing your symptoms.

 

Please keep in mind that I'm not a doctor, in fact I have no medical training at all, and verify everything I say with a reliable medical source.

 

As it happens, about 50% of people who have a symptom or two of connective tissue disease (CTD), or even some antibodies too, never go on to develop a full-blown diagnosable CTD.  Also, with age, we can all acquire a variety of symptoms as our bodies inevitably display the effects of wear and tear (whether or not we have an underlying illness.)

 

It does sound like your doctor is taking your symptoms seriously, and running appropriate tests. Scleroderma would be only a rare cause of diastolic dysfunction. Dehydration can cause thirst as well as worsen kidney levels, so please make sure you stay well hydrated (but not over-hydrated, of course).  And be sure that you have regular screenings for diabetes, which can emulate scleroderma in many ways (including the face swelling and thirst.)

 

A scleroderma expert might be able to help you sort things out, as in tell you whether you have scleroderma already or tell you what the odds are that you may ever develop it...or perhaps even see what else it may be, if it is anything beyond the scope of normal aging (which can raise all sorts of havoc, all by itself!)

 

:hug-group:


Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#3 Joelf

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Posted 16 June 2016 - 07:17 PM

Hi Wilson,

Welcome to these forums!

I'm sorry to hear that you've had so many worrying symptoms, but no diagnosis to go with them. Unfortunately, I think not knowing is one of the worse scenarios, as it's very difficult to move forward if you're not sure what you're having to deal with and unsure of the prognosis.

Scleroderma is a complex and unpredictable disease to deal with at the best of times and very difficult to diagnose; I believe the average time to obtain a diagnosis is six years. In your case, fifteen years is certainly a long time to have the uncertainty hanging over you.

As Shelley has advised, it is quite possible to have scleroderma with serious internal organ involvement and yet never have any positive blood tests for the disease (we have many other members in the same position) and we do recommend that our members, if possible, consult a listed scleroderma expert, as scleroderma can mimic other diseases and really does require specialist knowledge and expertise to deal with all it's little idiosyncrasies.

I've included a link to our medical page on Cardiac Involvement, which I hope you'll find helpful and informative.

Kind regards,

Jo Frowde
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#4 Wilson

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Posted 17 June 2016 - 04:25 AM

Thank you Shelley and Jo,

I appreciate the thoughts from both of you. Shelley, you kind of underscored why my case is so difficult to diagnose because without a diagnosis of an underlying disease, my symptoms and individual diagnoses can be dismissed as isolated and unrelated problems. I have had many other symptoms over the years that I did not mention (because I did not want my story to be overly long) with many of them being common to scleroderma - like chronic acid reflux, for example. In addition to my symptoms, the firm medical diagnoses I do have are: Raynaud's, atrial and ventricular arrhythmias, acid reflux, irritable bowel, the enlarged left atrium in my heart, and the borderline high filling pressure on the left side of my heart. Any one or two of my symptoms and diagnoses could easily be explained away through some other cause. But, when considering all these things together, it is a pretty tough "sell" for me to attribute them to other causes. I have been through numerous medical "work ups" over the years and have regular bloodwork done. Diabetes has been ruled out as my blood glucose is always normal. In fact, just about everything has been ruled out! I think at this point the explanation is either an amazing coincidence of all these things happening in the same person at the same time or else it is Scleroderma or a related disease. And scleroderma is known to cause all of the things I have. For example, rising blood urea nitrogen levels and enlarged left atrium are common to long-standing scleroderma from what I have read.

I do appreciate Shelley your point though about the many cases where patients never develop a recognizable named connective tissue disease - yet still do have something wrong. I sort of forget about that point. I believe either I have something like that or else I truly do have Sine Scleroderma.

Thanks Jo for those links you provided. And if there is anybody out there with Sine Scleroderma and negative bloodwork, I'd love to hear from you! And thanks to both of you Jo and Shelley for the advice about the Scleroderma Experts - I will consider that in the future.

When it comes right down to it, I cannot convince anyone that there is something wrong even though I KNOW I have an underlying disease. Like you said Jo, that is hard to live with - but "it is, what it is." Over the years I had to "make my peace" with living with a disease without a name. I made that peace partially by thinking that it was maybe not really hurting me too badly. Now I may have to make my peace all over again with a no-name disease that actually IS inflicting damage.

I wonder how many people over the years have passed away from this disease without ever having a diagnosis! (Not a very cheery thought I know...but I truly wonder if scleroderma is more common that they know).

Thanks for listening and for your advice. I appreciate it and I wish the best to both of you.

-Wilson.

#5 judyt

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Posted 17 June 2016 - 10:51 AM

Hi Wilson,

 

Your final comment above rang a bell with me.   Very early on after my diagnosis, which took 38 years, a Rheumatologist commented to me that he thought there were many more folks with Scleroderma than will ever be known about.

 

It does seem possible doesn't it, it is such an insidious and ever changing thing that somebody could spend their whole life with just one or two symptoms and never ever even have a blood test.

 

Judyt



#6 Shelley Ensz

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Posted 19 June 2016 - 09:54 AM

Hi Wilson,

 

I do know, in many ways, what you are feeling, as I've suffered extremely delayed diagnoses over the years. Several times, I've felt completely exasperated by it.

 

At one point, I read that about 40% of lupus cases were diagnosed by autopsy. I really don't know if that is true or not, as I haven't found that reference since.  What I do remember though is that I adopted as my slogan, "I refuse to be diagnosed by autopsy!"  Sometimes that rallying cry was the only thing that got me out of bed or gave me the courage to face yet another test.

 

It's taken literally a lifetime for me to be mostly diagnosed, as I have multiple autoimmune syndrome (MAS) with all sorts of overlaps, which has been endlessly confusing both for me and my doctors.  So, on that hand, I know how extremely difficult some autoimmune diseases can be to get properly diagnosed.

 

On the other hand, my late husband had a variety of things that emulated scleroderma, yet beyond the shadow of a doubt he did not have scleroderma or any autoimmune disease. He had alpha-1-antitrypsin deficiency (A1A) which caused him to have severe lung problems at a young age. Eventually he had a lung transplant. 

 

So he was on oxygen for many years. But other than that, he also had severe esophageal ulcers and strictures, and had to have his throat stretched regularly. His heartburn was so severe that he had to have Nissen Fundoplication surgery. He had severe sleep apnea; costochondritis; atrial fibrillation; short-term insulin dependent diabetes from prednisone; osteoporosis; recurrent cellulitis; collapsed lung; ruptured Achilles tendon; and even Dupuytren's contractures in both hands.

 

Everything other than the lung involvement was due to either the usual effects of aging or the side effects of medications. There was absolutely nothing (other than A1A) systemically wrong with him, and I can assure you that every test known to man was run prior to his transplant.

 

So it's kind of funny. People can have only a few little things wrong with them but clearly have an autoimmune disease but a rosy prognosis, yet others can have dozens, of things wrong with them at once and not have any underlying disease process that is driving it -- other than aging, which is a mighty adversary all by itself, never to be underestimated.

 

Please keep in mind that it is NO LESS SICK (and certainly, no less important) to have symptoms without a cohesive underlying illness, than it is to have the same symptoms without such an illness. Maybe the prognosis is sometimes better for people without an underlying illness. But all of us, healthy or not, have one thing in common which is that we suffer from a condition called Life, which is always, and inevitably, and unpredictably, fatal, whether by disease or accident or foul play.

 

I suppose in the end, all of us actually get our final diagnosis by autopsy. But oh, so little, and so absurdly late!  It is today that we wish to know exactly what ails us, so that we can thus try to thwart our final diagnosis by a few days or weeks or months or years with proper care.

 

Hopefully through our Sclero Forums, we will all find the strength to face another day with courage, with grace, with laughter...whether with or without any particular diagnosis at the moment, knowing that we all share the prognosis of Life together, along with all of its joys and blessings, and uncertainties.

 

:hug-group:

 

 

 


Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#7 Wilson

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Posted 21 June 2016 - 09:34 AM

Thanks Judyt and Shelley for your added posts,

I assume Judyt, that you must not have had any skin involvement if it took 38 years to get a diagnosis? (I hope I am still around and looking for answers at the 38-year mark!)

Shelley, yeah I like your saying "refuse to be diagnosed by autopsy" although I must admit we seem to have only so much "say" on that matter sometimes. I am sorry to hear of you and your late husband's ailments and I agree that everyone's situation is different. 

 

There will be some people that do unfortunately just have a variety of individual ailments with not necessarily a common connection. I just know in my case that is not so - but, of course, I cannot prove it. Rather I just know it from living inside my body and seeing all the things that have happened and the context and timing in which they have occurred. For example, my problems really started immediately during a bad viral infection years ago (which is regarded as one of the likely triggers for scleroderma and other connective tissue diseases).

 

I think you said it pretty well though that we all suffer from the same terminal illness called "life."

Thanks...Wilson.



#8 judyt

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Posted 21 June 2016 - 12:56 PM

Hi Wilson,

 

Yes you are right, I had no obvious skin involvement to raise the alarm.

 

Just abnormal nailfold capilliaries, which were treated as a fungal infection by the Doctors I asked, swollen fingers from time to time, Telangiectasia but not very many, and now I know the tightish skin on my fingers from middle joint to tip is regarded as Sclerodactyly.

 

Sewing and handcrafts have always been my favourite recreation so I am forever thankful that I have nothing going on with my hands which  interferes with my dexterity.   My friends would scoff at me for taking my sewing projects on holiday when they would prefer to be out tramping, boating and the like.   Now they are more likely to understand that was what I was capable of once a little bit of  outdoor activity had exhausted me.

 

You do what you can and let go of the things you would like to do but can't.

 

Best wishes in your quest for answers

Judyt



#9 Wilson

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Posted 22 June 2016 - 09:44 AM

Thanks Judyt for your response! I hope you have at least another 38 years of sewing ahead of you! :)