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.

The Scleroderma Chronicles: July Report

If there is one true thing about scleroderma, it is that it never stays the same. I think of it like the weather or road conditions; as soon as you think you’ve figured out what to wear or the best route to drive to work, things change.  If you are dealing with scleroderma in your life, you just learn to roll with the punches. One day you feel fine, and the next one you have brain fog, your knees won’t bend, and gastritis has come to call. One night my hair just started falling out and strands began snowing down onto my shoulders and arms. I didn’t know if I should laugh or cry…

Ugh. This is scleroderma. Bad days come and go, plans shift, and life goes on.

FitBit
Look at what I bought!

Here’s the deal: I’m doing much better! I’m having a lot of good days!! After months of struggling my doctors and I realized that I needed to go off some of my meds because I was getting much better! My lung volume has increased, my heart is looking normal, and my blood pressure is down. Bam! Time to start getting some exercise, don’t you think? I bought a Fitbit and slowly began to increase my daily steps until I could do 5,000 steps every day. Then I began to increase my active minutes and now, at the end of July, I am logging 3 days of exercise a week. This is huge, huge, huge!! Yay, Fitbit!!

Banana smoothie
I’m drinking a banana/yoghurt smoothie every day now.

If you slogged through any of my June posts (Science and the Scleroderma Girl) you know that I maintain a log of my symptoms, diet, and other data that occurs to me. (Yep. Weather fronts do make it harder for me to breathe. Who would have suspected that! Thank you log book!) This month I added bananas to my diet to see if they would help reduce muscle pain. I think they’re helping, and getting exercise probably helps too. Yay, bananas!

Castor oil.
I bought this to use in my eyes after my ophthalmologist suggested that I try it to help with my Sjogren’s symptoms. Kind of freaked me out as I was taught as a child that caster beans were poisonous…

When I bought this oil on Amazon I noticed in the comments by other customers that they used it on their scalps to help hair grow. Who knew? Maybe that is a thing, I thought. I checked in the scleroderma online forums and decided to oil my scalp once a week. Now, at the end of July, I am happy to report that my hair seems to be growing back. Yay, castor oil!!

Today was the last day of July. It was a pretty good month for me and my scleroderma. There were some definite bumps during the month, but over all the patient scientist approach to managing my trio of autoimmune diseases is paying off for me. Exercise, bananas, and castor oil were big positives for the month. The negatives were discovering that I can’t have any sunshine on my skin, and I absolutely can’t cut down on the stomach acid reducer med. Oh, well, even negative results are good to know.

Wild bunny.
This bunny has taken to sleeping in my front flower bed, but isn’t eating any of my flowers. How positive can you get?

Yesterday I bought a new data notebook. I have some ideas about some new stuff to experiment with…

Science and the Scleroderma Girl rides again.

Bring it on, August!

Goodbye “Science and the Scleroderma Girl”… I’m Heading Back to the Garden

Today is World Scleroderma Day. Gosh, there should be a huge post today that pulls together my whole monthly effort… nope. That sounds just exhausting, doesn’t it. How about we just head out to my garden to see what’s up. After that I can show you the big picture on what I’ve been doing all month in “Science and the Scleroderma Girl”.

Getting into the garden has been difficult for me since the sun and I are not friends. Last week I went out for a couple of hours to weed in the morning in the shade, and yep… I developed a rash on my arms and then the flare arrived. I was holed up for days getting over that little misadventure. After I  recovered I tried out weeding after dark. Gosh, I’ve had more fun moping floors. It just isn’t the same if you can’t actual see what you are doing. I wonder why that is?

Arm
But look at what I scored today while I was out shopping!! Do you see that the pattern is teal colored butterfly wings? How more appropriate for World Scleroderma Day can you get?
Sun protection!
Do you see what is written on this arm? This is a outfit designed to provide full sun protection for people playing in the surf. It is cool, wicks moisture, and will protect me from the sun. This is exactly what I need!
Jacket
Check out the whole top. This plus a hat should set me up for morning gardening, don’t you think?

There are leggings too to provide complete sunblock for the surf enthusiast, but that probably is more than I need to tend to the roses. I usually get wet while I’m watering in the evenings, and once again this baby should handle it fine. I am so set up for the rest of the summer!

Let’s see what is still alive in the garden after a week of amazing, blistering heat. Yesterday it was 105°F; these plants are no longer happy.

Purple flowers
The flowers in the tub on the back porch made it…
Veronica flowers
So did this Veronica. I’ve been transplanting this into several flower beds since it does so well.
Strawberries
Even the strawberry plants are producing well. Look at the berries that I had Tuesday afternoon. I decided to wait until Wed morning to pick them…
Bare strawberry plant
Unfortunately a squirrel beat me to them. This is all that was left, and I’m sure that he left this half eaten berry just to taunt me!

This weekend will be cooler, and I gave all the plants a good watering this evening so that they will recover over the next few days. Poor plants. Life has been tough for the last couple of weeks: heavy rain for a week followed by triple digit temperatures and blazing sunlight.

Now that we are leaving the garden here is my Scleroderma Month of June:

What I didn’t put into this was a lot of actual information about what scleroderma is. Oops. This post that I wrote for Rare Disease Day should cover that glaring omission.

So, this is World Scleroderma Day. All over the world people have posted the pictures of their smiles in an effort to make an invisible, but pretty darn serious, disease have a face. My smiling face is above: a little crooked these days, my lips have gotten too thick to smile right, and my hair is falling out, but I am doing well. Every day brings a new challenge, but still, with good luck, humor and a touch of science, I rise.

Have a good weekend everyone!

Science and the Scleroderma Girl: The Only Point in Common

Two years ago I was getting bounced around between several doctors as they tried to figure out why I was struggling to breath. The rheumatologist felt I should see a cardiologist. The pulmonologist felt that I needed to be treated by the rheumatologist. The internist insisted that the pulmonologist needed to intervene. The rheumatologist was very reluctant to give me an inhaler even though he had ordered the PFT that indicated that I needed one.

I was getting close to pulling out my hair! Literally, there were too many cooks in the kitchen and no one could manage to get the meal assembled. I was the cake in the oven, and I had just collapsed into an ugly, doughy mess…

“Look”, said the rheumatologist in the middle of this, “you are the only point in common between all of your doctors. Each one of us sees just one slice of your health, but you are the one getting all the info…” In effect, she was telling me to take charge of my health. Uh…

Spock: He is intelligent, but not experienced. His pattern indicates two-dimensional thinking… (Star Trek II: The Wrath of Kahn)

Seriously? I’m expected to organize this circus? I have skills, but to suggest that I should run this show is ludicrous…

Except, from a certain viewpoint, I am running the show; I AM the show. I have a serious illness, and I have a team of doctors to address my symptoms and halt my disease’s progression. I need to be proactive and ensure that I get the treatment that I need. Clearly, I needed help to sort through the conflicting advice and to assign priorities to the elements of my treatment plan.

There needed to be one doctor who knew me well, understood the big picture, who could also cut through the red tape and facilitate immediate medical response from the most appropriate provider if needed.

I made an appointment with my internist, who was also my primary care physician, and laid out the problem. I told her that I needed someone to review all the notes and test results from the other doctors on a regular basis to understand the big picture. I shared with her my concerns about differing information from the other physicians: I needed an expert to work with me to coordinate my treatment plan. There needed to be a doctor who saw me on a regular basis, who knew me and my situation, who could take a “snapshot” of my health situation, and who could see me almost immediately if I got into trouble. One of the problems that I struggle with is knowing which doctor to call when I develop problems; with this arrangement I have a designated first contact who will decide which specialist needs to be contacted next.

We agreed that I should come in every three months for the medical review and snapshot of my current status.

Everything changed for me. My internist reads everything from the other doctors at these appointments, and she answers questions that I have in a cross-disciplinary way that the other specialists can’t. It’s more like a consultation than the usual medical appointment. She looks to see what has been missed by the other doctors, and facilitates communication between the doctors. She has sent me for immediate testing, cut through the red tape so I could get oxygen when I needed it, and makes sure I get the complete text of all testing reports.

I make an appointment with her before I see the specialists to plan for those appointments, and then I see her afterwards to debrief on what happened and to see if anything was missed. When I go to my appointments with the specialists I can talk about test results, my prescriptions, and the symptoms that are concerning me; I have become an informed patient. Because of this I am a better conduit of information between the doctors, and the coordination of care and smooth communication has greatly increased. My doctors and I are now collaborative partners working to manage my disease.

From a collection of 6 doctors I now have a smoothly coordinated team to jointly treat my illness. For me, this is a huge difference! I’m now in much better shape, and I feel more in control of what is happening. I AM the only point in common, so I had to activate my hidden superpower of facilitation and coordination to make it work.

And knit. I had to knit a lot.

Have a good weekend everyone.

Science and the Scleroderma Girl: The Nature of Science

Logic clearly dictates…

Spock, Star Trek II: The Wrath of Kahn

Science. Everyone knows what science is, right? I mean, we have all been exposed to courses in science that involved learning lots of stuff about rocks, atoms, moving objects, plants, furry animals and stars. There are all of those books and all those facts, equations, and laws to learn. The vocabulary is ridiculous!

Science is also a way of thinking that allows us to learn new information about the world around us. It is a system of reason and logic that helps us understand what we know, and why we know it. Every year I started the biology course with a little unit called “The Nature of Science”, and this is what it covered:

  • Science is used to explore the natural, physical world around us. The magical and supernatural spheres are definitely off limits. The reason why is…
  • Science requires that we be able to collect data about a phenomenon we are studying: it must be observable with our senses or instruments. Something may be real, but if we can’t observe it we can’t study it using the rules of science.
  •  In science you cannot whip out a miracle to make your model work…
  • The data that is collected should be consistent over time. Think about ghost research; instruments that show the presence of ghosts work on some occasions and not on others. That data isn’t reliable because it isn’t consistent. If I drop a glass it will fall to the floor every time, and it will accelerate towards the floor at the same rate every time I drop it. That data is reliable.
  • It should be possible to make predictions based on observations and prior understandings. We generally call these predictions hypothesis, and they get tested all the time in…
  • Experiments! The way we expand our understanding of the natural world is through experimentation that tests these predictive hypotheses. Observable data is collected during the experiment that allows us to draw some conclusions about whether the hypothesis was correct or false. Either way is fine. The point here is, we should be able to test the hypothesis to see if the prediction was accurate.
  • Here is the best part of science: based on what new understandings are generated our predictive models should be able to be adjusted. NOTHING is forever in science when you are dealing with the big predictive models that we call theories. For example, when I was a child I was told that mountains were formed as the earth cooled and wrinkles formed on the planet “like a raisin”. Ugh! Can you believe I was taught that?! Our current understanding of mountain formation involves the movement of large plates in the earth’s crust (plate tectonics), which actually makes more sense as it also explains earthquakes and volcanoes. Is my heart set on plate tectonics? Nope. If some new information emerges that supports an expanded or new model of mountain formation, I have to follow the data. That’s why theories are said to be “supported” by evidence, but never proven.

Science is about using logic and reason to learn new things about the world. Logical safeguards are in place to help make sure conclusions are valid (you know about some of these… I’m talking about controlled experiments, reproducible results, and peer review of published experimental results). Science is actually a form of applied philosophy; early scientists were called “natural philosophers” and today the degree is still called a Doctor of Philosophy. Yep. That’s what Ph.D. stands for.

Why is this stuff important to me and anyone else with an autoimmune disease? Unhappily, we are out there on the edge of the envelope, falling off the map, and beyond solid scientific understandings. We have diseases that developed via unknown pathways and causes, and they are not completely understood. There is no definitive treatment that will “cure” the disease. We are part of a continuing effort to expand scientific and medical knowledge as we progress through our illnesses using drugs and interventions that are the best predictions for good outcomes. We are all walking hypotheses, and what happens to us helps build the body of evidence on how effective our treatments were. As knowledge expands in labs about the biological pathways and the disease mechanisms, new treatments will be developed, they will also be subjected to this scientific process, and the total body of scientific understandings will grow. Someday it will all be “old stuff” and written in a dusty book.

But today, I’m rocking the edge of the envelope as a walking experiment of one.

I even keep a science notebook on myself.

That’s tomorrow’s post.

It’s June! Introducing Science and the Scleroderma Girl.

Okay, this is it. I’ve been fussing for over a year about writing a series about science, biology, medical decisions, and navigating safely through a world of alternative medicine and treatments. I’ve come close to launching into a block of mini-rants before, but never went there because it would just take too much energy…

June is Scleroderma Awareness Month. As luck would have it, June has also arrived as I sail back into calm waters following a 6 week storm set off by worsening symptoms, medical testing, and finally a collaborative consensus between my doctors and myself based on data that informs a new course of treatment. In other words, science, biology, and data-driven medical decisions have saved the day. I have lived a life of science in my educational and professional life and this training and way of thinking continues to save the day for me. I do have other skills, of course, but the foundation is always based in science.

I guess I think that it is time for me to share in case it helps anyone else.

Hot Cocoa Rose.
June has brought me the first rose of summer, too. Look at this cutie!

This month I am better. This month my energy is coming back, ideas for topics are swirling in my head, and I think that the time has come. I’ve started a planning grid with all of my topics and resources, and things are starting to come together. Since June is Scleroderma Awareness Month, this is the month that I should do this. If I can put this all together, there will be a post each day this month. With Star Trek quotes, of course!

I did tell you I was a science geek, didn’t I?

The Scleroderma Chronicles: I’ll take a side of fibromyalgia with that…

My poor physician team. I come to see them with a whole host of complaints at every appointment. I can see then mentally sorting the symptoms into piles as I talk :

  • important, needs to be investigated immediately.
  • sad, but part of the life of a patient with this chronic condition.
  • these are issues that should be passed on to another member of the treatment team.
  • irrelevant to the current diagnosis.

For three years I’ve been mentioning my muscle problems. My muscles are sore to the touch, and they just burn sometimes. The burning can go on for days, and I do get a little cranky; okay, maybe some wailing has occurred. Poor cats! It is really painful at connection points around joints. Stamina is  poor, and I’m exhausted all the time.

Yellow cat.
I dragged a cat pillar into the bedroom for the cats to sleep on as it too hard to have them in bed with me. There are days when a cat paw on my leg is more than I can handle.

Some of these symptoms can be explained as being part of the whole scleroderma thing. Muscle issues are rampant with scleroderma as some of the necessary enzymes for muscle movement are too low for reasons that aren’t clear to me. My rheumatologist has checked for polymyositis and other serious muscle problems, but my muscle strength is good and my test results have been normal. I’m in pain, but my muscles aren’t being damaged. I have been just managing with heat pads and knitting as there seemed to be nothing that could be done. To make things worse I can’t have anti-inflammatory drugs or painkillers because my kidney function is low. Bad muscles, bad!

Best advice ever for the scleroderma girl. Really, what else can I do?

At my last visit with my rheumatologist I was really sore to the touch, and she suddenly asked if I was experiencing brain fog…

Oh my lord, yes! It is so bad I’m afraid to drive sometimes. I struggle with anxiety and some depression when things are bad. The fatigue is off the charts when this is going on, and I can’t get good sleep. Lately I have developed headaches too…

“Oh. This is fibromyalgia“, she said. Just like that the light had gone off for her; my symptoms were suddenly sorted into another pile that screamed “fibromyalgia”. She did a quick assessment, and the diagnosis was added to my chart lickity split…

I also have Sjogren’s Syndrome, and the symptoms of fibromyalgia and Sjogren’s do overlap, but it would appear that I have both. No wonder my fatigue has been so extreme.

So, nothing has changed, but at the same time everything has changed. I have concrete reasons for feeling so bad. My blood pressure issues have improved, and I am able to walk and exercise more. I’m using my inhaler every day and my blood oxygen levels are coming up. The more I move, the better I feel. Little by little, I am getting a handle on things again. I am sleeping like a rock and I wake up feeling pretty good.

My terrible twosome of autoimmune diseases just became a triad, and I am actually feeling more hopeful about my ability to manage things. Take that, you three! I am coming after you all with a pitchfork!

Err… make that knitting needles. I’m coming for you all the same. Be warned, I am taking you down!

Knowledge is power.