Tag: Medical Zebras

The Scleroderma Chronicles: Rare Disease Day 2024

Rare Disease Day is tomorrow, but since I’m going in for a lung scan on the 29th, I thought I would post this now.

Well, here it is again. Rare Disease Day. This is my 9th year posting about rare diseases: on August 28, 2014, I was diagnosed with a form of scleroderma called limited systemic sclerosis. This condition, autoimmune in nature, is progressive as multiple organs, blood vessels, and the skin of the patient (that would be me) stiffen and harden due to scarring (fibrosis). It is also considered rare, since fewer than 200,000 people in the US are currently diagnosed with it.

So, what’s up with the zebra? Well… in the medical community doctors and other health professionals are trained to focus on the most common cause for the symptoms that they are seeing in their patient. The saying goes: when you hear hoofbeats, think of horses, not zebras. Certainly, that makes a lot of sense in terms of patient care and cost control. It works most of the time.

Unless, of course, you are a zebra.

Life is challenging if you are a zebra in a herd of horses. Doctors screen for the most likely cause of reported symptoms, and then when those tests are negative, you usually get told that you are fine, and then you are pawned off with some pablum like… do these exercises… try to reduce stress…would you like anti-depressants?… Seriously, it is pretty crushing as you start to wonder if you are just an attention-seeking hypochondriac since for the most part you look great. In my case, I didn’t even appear to be aging…

This can go on for years. And years. Autoimmune conditions like mine tend to send patients with vague complaints (I hurt all over…) to the doctor’s office looking for help. Some of the symptoms can be so subtle that you just don’t think to mention them to the doctor because you already feel pretty defensive about complaining after a few borderline disparaging interactions in the past. Why mention that you have trouble swallowing sometimes? Or that your arm is starting to look like Flipper the dolphin in appearance and texture? Some new red freckles have shown up on your face, but why mention them when you really want to get to the bottom of why you hurt all over and what is up with this fatigue????? Sure, there were those carpal tunnel surgeries 10 years ago, and the hospitalization for gastritis last year, but why would you mention them… When I was finally diagnosed, I discovered that I was absolutely classic and presented with all five of the CREST features of limited systemic sclerosis. Oh, one more thing: lack of wrinkles is a red flag for scleroderma…

You can see two of the CREST characteristics here. I’ve lost circulation in my ring finger as a result of Raynaud’s, and the thick (sausage-like) fingers that are trying to contract are examples of sclerodactyly. The other distinguishing symptoms are trouble swallowing, lumps of calcium deposits on some of my bones, and those pesky red freckles that are now appearing everywhere. It was official: I was a zebra. There are a lot of us.

Rare diseases are also known as orphan diseases. They are poorly supported and most of the time there is no treatment. After failing a chemotherapy drug, I was moved to an off-label treatment using an immunosuppressant drug developed for kidney transplant patients. It was hard to get the drug as it was declined by my insurance, then the appeal failed, my doctor filed another appeal, and I went to see the pharmacist with a pathology report showing extreme gastritis. It was a fight, but I got the drug. This drug, Myfortic (mycophenolic acid), has proven to be so effective in slowing disease progression that it is now approved for systemic sclerosis and is a drug of choice along with its close relative CellCept. It has been doing a pretty good job at slowing things down; at the time of my diagnosis the 10-year survival rate was about 50%. Now that there are some better treatment options the survival numbers have improved: 10-year survival is up to 70%.

Two years ago, I developed two of the more serious complications of systemic sclerosis (SSc): pulmonary hypertension and interstitial lung disease: two more rare diseases. Not good news at all; my pulmonologist told me it would be okay to cry as he showed me my lung scans and gave me the bad news. Remember that little word “progressive” that I used to describe SSc? This is disease progression; the inflammation and formation of scar tissue (fibrosis) had hit my lungs and heart, and my have doctors responded with big time drugs. Yes. Big time and pretty expensive drugs. Over the last few years, literally in the time since I was first diagnosed, drugs have appeared that can greatly improve treatment and life expectancy in patients like me, and there are more drugs in the pipeline.

The first drug that can be used to directly treat SSc just moved from orphan drug status to the fast track. This is serious, serious good news. I looked into entering a clinical trial for this drug, but my doctors thought that I wasn’t a good candidate because I have too many complications right now. Seriously, I have been slotted into a diagnosis called SSc-ILD with PH which means that I am a SSc patient with interstitial lung disease and pulmonary hypertension. Good grief, I’m now a walking bundle of acronyms. That’s okay. I can hang on, help is on the way!! FT011, I am waiting for you!!!

So, what is up with all the colored stripes?

Serious medical conditions usually have an awareness ribbon color. It is a little cheesy, but if you are dealing with scary stuff, why not have some fun? Be a zebra, color your stripes in your awareness colors, and get yourself some fun t-shirts while you are at it. Eat Zebra Food (that would be black and white striped caramel popcorn to you non-zebras), get colored medical bracelets, and collect the stuffed animals. Zebras, of course!! My zebra has teal stripes (scleroderma), periwinkle stripes (PH) and purple for the ILD. Lung disease in general is green and blue. I also get purple for my Sjogren’s and fibromyalgia, and don’t forget the red for my heart failure. I’m a rainbow zebra!! Yay!

Okay, time to get serious. What is Rare Disease Day about? Raising awareness in the public about the challenges of living with a rare disease. There are a lot of people who have rare diseases, so by sharing our faces and voices the hope is that it will help make us more visible. We hope that a more educated public will aid in the diagnosis of others with rare conditions. (See above; diagnosis can take years. It would be wonderful if that could be sped up a little…) We hope it will help with funding for drugs, treatments, and maybe even cures. We hope that for those with invisible conditions, they will become more visible and supported. We hope.

MacKenzie and me from 2018.

To learn more about my rare conditions and others you can go to:

To everyone who battles on against scleroderma or any other serious medical condition, rare or not, I see you. Hugs! Shine on, my friends, shine on!

The Scleroderma Chronicles: Rare Disease Day 2020

I’m an orphan. I’m a zebra. I am rare. This is a club that is hard to get into because it has really specific criteria, but it also has lots and lots of members.

What, you say? Whatever is she talking about?

I’m talking about rare diseases! A rare disease is classified as one that impacts a small percentage of the total population. Here in the United States that means fewer than 200,000 people diagnosed with the condition/disease. Perversely, there are a lot of people with rare diseases as there are almost 7,000 different rare diseases!  Some of these diseases are common enough that you may be familiar with them: albinism, achondroplasia (a type of dwarfism), and autoimmune hepatitis are examples. Others are very rare. Most are genetic in origin, and half of them impact children. More than 90% of rare conditions have no drug treatment. You can learn more  about rare diseases in general and search for specific conditions/diseases in the links at the end of this post.

So, what is Rare Disease Day? The purpose of this day is to raise awareness of the many, many diseases that are classified as “rare” around the world. The hope is that by shining a light on these diseases, and to put a face on the people who struggle with the many rare conditions that are out there, there will be improvements in how these people are handled in the health care system, drug companies, funding agencies, and by the public.

I joined the rare disease club 5 years ago when I was diagnosed with systemic sclerosis, a serious form of scleroderma that has no cure, can be disabling, progressive, and often fatal. These last 5 years have certainly been eye-opening for me, and I believe that my experiences are shared by many others who struggle with rare diseases. Let me list some of my epiphanies during this journey:

    • People in general are dismissive of illnesses that they have never heard of before. If you are a person with a rare disease, it is almost a certainty that no one has heard of your disease. Oops. You just got written off as an attention-seeking hypochondriac by a person who hardly knows you because they never heard of your disease…
    • The health care industry is designed to treat people with common diseases, and often ignores, dismisses, or denigrates patients who don’t fit the normal profile: the zebras. It is really, really hard to get a diagnosis for some rare conditions (autoimmune diseases like mine are famous for this). If you have a rare disease, you are trying to make your way through a system that wasn’t designed to identify and treat you.
    • There is little incentive for drug companies to develop treatments that can only be used for a small patient population. That’s why there rarely is an effective treatment or cure. That’s also why drugs for rare diseases are called orphan drugs; another name for a rare disease is an orphan disease. Yep, I’m an orphan, but there are several drugs with orphan status in the development pipeline right now. I’m lucky that way; most orphan diseases have no drugs for treatment under development.
    • To be rare means you may be too risky to treat. Once you are diagnosed with an unusual health condition it actually interferes with your medical care; because you are complicated physicians are likely to dismiss or “just monitor” symptoms that would receive immediate attention in another patient. Without more experience they can’t be sure what is “normal” for you and/or if the treatment usually used for other patients might make things worse for you. There’s another whole blog post about this on the way!
    • It is really, really hard for people to wrap their heads around “chronic.” We almost all universally believe that people can get better if they just try. Attitude is everything, right? If you just took this supplement, started eating keto, got more exercise and sunshine, tried essential oils…
    • Closely associated to this belief in the general public is one that assigns blame to the ill for their disease. If you are sick it must be because you ate too much red meat, or are obese, or failed to exercise enough. You should have eaten organic!! I know that people do this because they want to believe that they are safe from a similar diagnosis, but it still adds to the burden of those dealing with a life off the mainstream, caused, not by their choices, but by an inherited flaw in their genes.
    • If all of this wasn’t enough, or maybe because of all of this, rare diseases are expensive and isolating. Resources are few. Support is hard to find. You feel alone. An orphan.

So, this is Rare Disease Day. Some people with rare diseases must share experiences like mine; many are far, far worse than my own. If you would like to learn more about rare diseases here are some resources:

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 Association , National Institute of Allergy and Infectious Disease  ,   and Autoimmunity.