The Scleroderma Chronicles: An Autoimmune Zebra

“When you hear hoofbeats, think of horses, not zebras.”  ~medical school proverb

Zebra ~medical slang for an exotic medical diagnosis

Author as 16 year old student.
16 years old: my last year illness-free.

As a teenager I struggled with eczema and was photosensitive; I was started on steroids, told to wear long sleeves, and to stay out of the sun. Without a clear cause for my eczema/rash I told that I was high strung and unable to handle stress; if I could control my emotions I would see my symptoms disappear. Eventually I did get better, the drugs stopped, and my life went on.

In my early 20s I had my first asthma attacks. I didn’t really understand what was happening, it was always in the night, and the doctor couldn’t find anything wrong. I was told to handle stress better. Most of the time I was okay, so I just learned to deal with it.

In my early 30s my knees began to swell and become painful. There were lumps below and behind my knees. I had an ultrasound to make sure the worst lump wasn’t cancer. I was told to do special exercises and to stick to low impact. My eyes hurt and I couldn’t go outside without sunglasses. Clouds of floaters swam across my vision. You have allergies, said the doctor. My finger was too fat for my wedding ring so I resized it.

In my 40s my hands became numb and swelled. I had a lot of pain and struggled to manage routine tasks. Carpal tunnel, said the doctors: it’s a repetitive motion injury and you did this to yourself. I had the surgery on both wrists and my hands did get better, but I still struggled with swelling and numbness, even in my feet. I developed a rash on my face. Rosacea, said the doctor. My knees still hurt. I started to develop high blood pressure. Control your diet and exercise, said the doctor. My fingers became too fat to wear any of my rings. I was tested for autoimmune antibodies associated with rheumatic diseases (anti-nuclear antibodies), but the result was only mildly positive so it was dismissed as not significant.

In my 50s my knees were so bad I had to take ibuprofen every day to function at work. It hurt to breathe in the mornings, and I had several cases of bronchitis that required an inhaler and steroids to recover from. I developed pleurisy. I was also told that there was nothing wrong with my lungs, and that I needed to get better shoes. My face and jaw hurt so much I couldn’t sleep. TMJ, said the doctor. You need to handle stress better. My kidney function dropped to 35%, alarming another doctor. You damaged your kidneys taking ibuprofen, I was told, and you can’t take any more.  I changed my job so I wouldn’t have to stand so much at work. My blood pressure continued to rise in spite of changes in my diet and exercise; I was placed on a beta blocker to control it. I developed Raynaud’s phenomenon; don’t worry, I was told, it is a side effect of the beta blocker. I wondered why I wasn’t getting wrinkles like my friends. The rash on my face was getting worse.

In my early 60s I noticed that my arm was getting “thick” and that I sometimes couldn’t complete a swallow; food became “stuck” mid-gulp. I complained about dry mouth. My fingers turned blue in the cold. I was hospitalized with severe gastritis. I was stalked by fatigue and my knees hurt every single day. My fingers were too fat to make a tight fist. Unable to function at work, I retired early. I developed colitis and rarely left the house. Testing showed that I didn’t have an intestinal infection, and my doctor didn’t pursue things any further.

Struggling with life and my early retirement,  I grew roses, read books, knitted, and launched this blog.

One night the light went off for me. I had joint pain, kidney damage, intestinal woes, Raynaud’s, a rash on my face, and a positive ANA. I walked in and demanded testing for lupus.

How is it possible, asked my doctor when confronted with the list of symptoms, that you haven’t already been diagnosed? Shocked that I had slipped through the cracks for years, my doctor immediately ordered the complete diagnostic battery for rheumatic diseases. It wasn’t lupus after all, but a couple of relatives: scleroderma and Sjogren’s syndrome, two rheumatic systemic diseases that unified all of my symptoms. The decades-long string of mystery complaints was over, and I was started on aggressive treatment for these two autoimmune diseases.

How was it possible that I hadn’t been diagnosed earlier? Isn’t that a wonderful question! How could I have slipped through the cracks year after year as I struggled with pain, respiratory infections, dysfunctional hands, eye problems, TMJ, and all the other medical woes that had parked themselves at my door? Why was there no diagnosis when, as I was to learn later, I was an absolute classic case of limited systemic sclerosis, a type of scleroderma, and that my Sjogren’s was obvious and well established.

In retrospect, the answer is glaringly obvious: I am not common. I have a rare disease (systemic sclerosis), and even though my doctors were well intentioned, they dismissed my symptoms when I didn’t fit the usual diagnostic profiles. I was a zebra in a herd of horses, ill-behaved and refusing to fall into line with their medical school training. Since I couldn’t be diagnosed with any of the normal causes for my symptoms, doctor after doctor concluded that they must be due to something else, like maybe stress… or lack of exercise… or my choices in pain medication. Time after time, I was assigned the blame for my own illness because of my inability to “handle stress”, repetitive motions, bad shoes, lack of exercise, taking ibuprofen, or any other excuse reasonable explanation that came to mind when my symptoms could not be ascribed to common causes. My doctors had been trained to ignore zebras, and these other causes were more plausible to them.

The other reason this happened was because my symptoms were always presented to my doctors in isolation: chest cold, painful eyes, knees that won’t bend, and so on. Symptoms that emerged over decades, and were presented to different doctors. No one saw the big picture until I finally pieced it together myself and then my doctor was shocked by the list: grouped together my symptoms screamed autoimmune rheumatic disease.

Why am I reflecting (and writing) about all of this? This month, March, is National Autoimmune Awareness Month. My story is one that is shared by many, many other people who deal with autoimmune illnesses. One of my diseases is rare (scleroderma), but the Sjogren’s and fibromyalgia are not. In a way, to have an autoimmune disease is to be a zebra because these conditions are elusive, can present themselves with a battery of symptoms that are seemingly unconnected, and don’t respond to the usual courses of treatments like antibiotics, diet and exercise. They can take, just as mine did, many years to diagnose. For many autoimmune patients, they are, just as I was, zebras crying for help in a herd of horses. Trained to treat horses, doctors don’t always hear the cries. One way to combat the problem is to educate the zebras so that they can, just as I did, recognize and group their symptoms together in a meaningful way to present to their doctors to help them make the diagnosis. Autoimmune Awareness Month is meant to educate everyone who might deal with an autoimmune disease: patients, families, caretakers, and doctors.

In my family we know these illnesses well. My grandfather died from complications of rheumatoid arthritis and my father had disabling allergies. I have scleroderma, Sjogren’s syndrome and fibromyalgia. My son has type-1 diabetes and my daughter-in-law has multiple sclerosis.  In all of these illnesses there is an immune system that is attacking normal tissue in our bodies; for some of us the attack is moderated by drugs that are designed to disable parts of our immune systems, but it continues nevertheless. Unless there is a cure the damage will continue to accumulate in our organs and tissues. These are the words that are often used to describe autoimmune illnesses such as ours: disabling, progressive, incurable, potentially fatal.

We aren’t alone. There are around 50 million Americans who also have autoimmune diseases. There are over 100 different autoimmune diseases and the need for research, support and treatment is endless.

You can learn more about autoimmune disease at these resources: American Autoimmune Related Diseases AssociationNational Institute of Allergy and Infectious Disease  ,   and Autoimmunity.

Author: Midnight Knitter

I weave, knit and read in Aurora, Colorado where my garden lives. I have 2 sons, a knitting daughter-in-law, a grandson and two exceptionally spoiled cats.

18 thoughts on “The Scleroderma Chronicles: An Autoimmune Zebra”

  1. Thank you for sharing your experience and the interesting information.
    It’s hard to find a doctor that would “listen” to your request for help, in my experience.

    1. Oh, I totally agree. I’ve had doctors tell me what my symptoms are, rather than the other way around. Then they get grumpy when I disagree with them… 🙂 It is so hard for people as who are battling an invisible autoimmune condition. I decided to write about it in case it helps someone else.

      1. It dies help, indeed, so thank you for sharing. I suspect I may be having minor symptoms possibly related to auto immune reaction but some doctors just don’t/can’t listen… I plan to find a private specialist to hopefully have meaningful tests done, so that we can use facts to establish the scenario I’m dealing with. I just need to figure out what type of specialist and what tests, then go and find a good one.
        Your posts helped a lot 🙂 I’ll check the link you shared. Thanks again

      2. You go, girl!! I also suggest that you get copies of all your testing. It took me a couple of years to learn to do this, but it is helpful when you try to have a data driven conversation with your doctor.

      3. Yes, thanks for the sound advice! Doctors don’t seem to be pleased when you ask copies, which is really weird because it’s your own health after all?

      4. I bypassed the doctors, went to the hospital where testing was done and requested copies. I also got copies from my health provider. After learning I was going to have reasonable discussions (Instead of panic about one little detail) my doctors began sending me full reports via email. You are right: this is your health and you are entitled to the information!

    1. I wish I could make every single medical student read it!! There is cost effectiveness in medical testing and then just complete dismissal of what the patient is telling you. I think lots of autoimmune patients experience the latter.

  2. It’s a shame you lived so many years without the pieces of the jigsaw being put together by the medical professionals. What courage you had to insist they test you, this blaming the patient for lifestyle, self medication, stress management seems like such a cop out to them really finding the underlying cause. Makes me wonder how many other people don’t have the courage to speak up and have decades ahead of not being diagnosed. It’s great you are raising awareness.

    1. I have this awful feeling that a lot of people struggle along for years without a diagnosis getting blamed for their own disease. Remember when people with ulcers were told they were “Type A” and causing their ulcer by being too stressed? It’s like that. I was lucky to have the background knowledge to finally figure things out and the surge of self assurance to request testing.

  3. It’s too bad that zebras aren’t recognized sooner. I wasn’t diagnosed with Hashimoto’s Thyroiditis until after I was diagnosed with Thyroid cancer though I’d complained about symptoms for at least 10 years. I no longer have a thyroid but still live with the symptoms even though I complain to every doctor I see. They all point to the blood test results and say I’m fine.
    I’m glad you are working in partnership with your doctors. It makes for better care.

    1. It is a shame, isn’t it. I have great doctors, but I still hesitate to complain because it will set them off on a wild goose hunt for a “common” medical condition that would explain symptoms; something they can treat. Or they tell me nothing is wrong. Ugh!! I literally had a doctor point to an xray and insist that my lungs were fine as I struggled with shortness of breath. Autoimmune awareness is so important, huh.

  4. Thank You for sharing your story MK and for highlighting the importance of Autoimmune Disease Awareness Month – it will take us “zebras” herding together to raise awareness among healthcare professionals and patients to receive earlier diagnosis and better treatments/outcomes! Do you mind if I share the link to your post with my Twitter and Facebook followers? Your courage and tenacity are an inspiration!

  5. Awesome blog you have here but I was curious about if you knew of any community forums
    that cover the same topics talked about in this article?

    I’d really like to be a part of group where
    I can get advice from other knowledgeable people that share the same interest.
    If you have any recommendations, please let me know. Thank
    you!

    1. I suspect that there are lots of communities out there, but the one that I know of best is Inspire.com. The list of all the conditions hosted there ishttps://www.inspire.com/conditions/.

      I have also found some great support in three communities on Facebook. Do a facebook search for groups; the ones that I belong to are closed and you have to apply for membership, but I have had no problem getting in. These groups have rules and administrators which makes them great forums for discussion/rants/help. To be frank, I have found the facebook platform to be better than the online inspire.com one, but it probably depends on the condition and the members using that community.

  6. Can I simply just say what a relief to find a person that actually
    understands what they’re talking about on the web.
    You definitely realize how to bring an issue to light and
    make it important. More people must read this and understand this
    side of the story. I was surprised that you are not more popular because you surely have the gift.

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