The Scleroderma Chronicles: Rare Disease Day 2018

It seems like I just wrote a “rare disease day” post just yesterday, but it has been a whole year already. Actually, I think that I was really lazy last year and just re-posted the previous year’s blog post. Anyway, tomorrow (February 28th) is World Rare Disease Day. This year the motto is “Show Your Rare”, which is a little scary as it sounds vaguely like how I might order my steak, but I’m game. I’m rare, and here is my story.

First things first. Let’s talk about rare diseases. Here in the United States, a rare disease (also known as an orphan disease) is one that affects fewer than 200,000 people in the US. The bad news is that there are a lot of rare diseases; over 6,000 different diseases that impact about 25 million people just here in the US. Many of these are genetic in nature, and they tend to be chronic (more about that later).

I joined the rare disease club the day that my systemic sclerosis (a form of scleroderma) was diagnosed. With only about 100,000 cases in the US, we are definitely rare. Here’s the scoop on my disease: it is progressive, disabling, chronic, and possibly fatal. It shares some characteristics with cancer cells. It is also mostly invisible to other people, and people have no frame of reference to understand an illness that they have never heard of before, so they tend to be dismissive.

Scleroderma hand
One of the most obvious features of my condition is my thick skin. My legs and lower arms are literally hard, and here on my hand you can see that the skin folds kind of strangely. My skin is thick with scar tissue that has built up in response to inflammation set off by my immune system’s attack on normally healthy tissue.
You can really see it on this finger. My finger looks pale since the scaring is so bad it cuts off circulation when I hold it out straight. There is a silver lining to this: I will never have “old lady” hands.

My hands look strange, but I am doing really well all things considered. I have good circulation and flexibility which my doctors think is due to knitting. “Knit as much as you can!” was the recommendation. See, every setback in life has a silver lining.

What can’t be seen is my astonishing fatigue, muscle/joint pain, and brain fog. So much brain fog. I’m also accumulating organ damage as the months pass by. Digestive system damage, kidney damage, lung damage, and blood vessel damage that is slowly increasing the pressure in my heart.

Scleroderma face
All that redness on my face is due to blood vessel damage, and you can see the thick skin around my eye. Collagen build-up has given me chipmunk cheeks. Special. Thank heavens for red-cancelling make-up.

It’s like a scene from the movie, The Terminator. You know… if you substitute this line about the Terminator from the movie with the word scleroderma it would be… [Scleroderma] can’t be bargained with. It can’t be reasoned with. It doesn’t feel pity, or remorse, or fear! And it absolutely will not stop, ever, until you are dead!

Mortality rates are down for my form of the disease due to new drug interventions. The other good news is that it is moving really slowly in my case. I think that I have had this disease for decades, and only now, in my 60s, is it catching up with me. I’m on the best drugs available, I love my doctors, and they have slowed the disease progression down tremendously over the last couple of years.

But I’m still dealing with a serious chronic illness, as are many other people with rare diseases. For me, when trying to explain my illness to others, it is the concept of “chronic” that causes the most trouble. People tell me to get more sunshine, more exercise, better food, use essential oils, whatever, so that I can get better. That’s the way it is for many health conditions, but not for a chronic illness.

There is no better, I tell them. Only this. Nope. They will insist that I can get better if I just try, and take it as defeatism when I calmly explain that some of this damage can’t be reversed. It is possible to get better without getting well, they will say. You look so great! It’s like it’s a personal affront that I can’t just be cured. If they haven’t seen me for a few months they will express surprise that “this is still going on”.

It is the concept of “chronic” that is the problem. To accept that you are sick is not weakness or “giving up”. It is coming to terms with the nature of your enemy.

So here is my Rare Disease Day request for anyone who has managed to read all of this. Accept chronic. Ask the person you are talking to about how they are doing. Ask what their doctors are telling them. Accept that they are in a situation that they can’t escape from. Don’t shy away from the fight if you care about that person.

If you know the movie “The Terminator“, you know that the heroine of the tale, Sarah Connor, was a hell of a fighter. She never, ever gave up, and in the end she got the best of the monster trying to do her in.

I’m channeling Sarah Connor.


The View from Here: One Year of Scleroderma

It’s been a year since I was first diagnosed with scleroderma. Actually, it has been decided that I have the form of scleroderma called limited systemic sclerosis (the disease formerly known as CREST). Sounds kind of fraught, huh. That’s because it is; no matter what I think I know about my condition this week, by next week things will probably change. It has been quite a journey this year and now that all the dust has settled from the latest rounds of medical tests I wanted to share my thoughts.

There is no question that the first months after my diagnosis were filled with waves of horror and grief. At first I was just stunned to discover that I might lose the use of my hands. Then it dawned on me that my ability to live independently might become problematic; I needed to make plans to activate a support system for myself at some time in the future. Eventually I found out about the fatal complications and the high mortality rate. Well, shoot. During this time I became a driven knitter: endless pairs of fingerless mitts rolled off my needles.

My sister, who has a somewhat warped sense of humor, sent me this card about the time that I learned about my risk for pulmonary hypertension, an often fatal complication of limited systemic sclerosis.

Yet, it has been a year and I am still here. I sailed through the medical tests and none of the frightening medical complications have manifested themselves. My lungs and heart are fine (huge woohoo!!). My GI tract hasn’t gotten worse. My hands are very swollen and the skin is getting hard (one of the hallmarks of scleroderma is hard skin that forms due to lots of collagen deposition and scarring; my arms and legs are getting hard too), but they work just fine and are actually much better than they should be. My rheumatologist has advised me to knit as much as possible; what a hardship!  Other symptoms have improved and I have transitioned onto a battery of drugs that have good track records for improving the quality of life and increasing survival rates in patients with my condition.

So, what have I learned this year? Here is my reflective collection of observations as I look back from the one-year viewpoint:

  • People are more important then things. Period.
  • ..but they just don’t get chronic conditions and they tend to underestimate the seriousness of conditions that they can’t directly observe. In general people on crutches or using oxygen activate concern, but if you have flaming gastritis, the dizzy wobblies, and your muscles are on strike it’s easy for them to adopt a dismissive attitude. <sigh>
  • Medical personnel can be appallingly insensitive. Last week the technician doing my lung scan mentioned that I had a lot of doctors because my disease was really rare; it was important that the doctors get to learn as much from me as possible. Good lord, I wondered. Maybe she was raised by wolves…
  • As a corollary of the above observation, I have also discovered that I can’t assume that the medical personnel that I come in contact with actually know about my condition. One nurse thought that “systemic sclerosis” was “multiple sclerosis”. A doctor gave me a pep talk about how other conditions were worse because some of those patients actually can die from their disease. (“Did you want to hit him?” asked my rheumatologist…) One thing I can count on, however, is that they will put me into some scary machine to look for a possible blood clot. What is up with all the blood clot hunts?
  • MedAlert ID
    I do have some wonderful doctors! Because of crazy interactions with random medical people I have decided that it is best to be proactive: last month I put this tag onto my keys and the little card in my wallet has the business cards of my internist and rheumatologist stapled to it. 
  • There are few things as empowering as discovering that you won’t live forever. Why sweat the small stuff when you are facing down the long odds? My drugs have a small chance of a fatal brain infection? Whatever. Hand them over, Sparky, I am on board! I never worry about money (bad when I’m in a yarn store) or running out of gas, and I am taking more risks than I was comfortable with before. I mean, what is the worst thing that can happen? This week I figured out how to identify all of the electrical circuits of the house and rewired and installed a new doorbell. I didn’t worry (more than once) about getting knocked on my butt by an electrical mishap. Ha! In my younger days I hated to even change light bulbs…
  • Stay Calm and Carry Yarn
    Elizabeth Zimmerman was right. “Knit on with confidence and hope, through all crises.” is a motto that I can live with.
  • No, I won’t be skydiving! I’m not that risk-seeking. 🙂
  • It is so much easier to be happy than sad. Plant flowers. Read books. Knit like the wind! Chase bees. Go to lunch with friends (and get dessert!). Watch meteor showers and be sure to catch the Super Blood Moon. Talk to strangers in bookstores and coffee shops. Be kind whenever you can. Never miss an opportunity to take a picture of a great sunset (or a cat). It is really, really easy to be happy, even when you’re in a crazy machine that is looking for blood clots. 🙂

I finally went to my first scleroderma support group meeting a couple of months ago. I’d never met another person with scleroderma; it was a little extreme but good. Like me, they all suffer from cold hands. Unlike me, most of them also talked about the struggle to manage pain in their hands, and I could see that several of them had limited use of their hands because the skin was so tight. Remember all of those fingerless mitts I knitted during the sad times? I think that I have found a home for them.




Life is Uncertain, Knit Fast!!

Yesterday was Thanksgiving. A time to be thankful for the good things in life. I have always thankful for good health in the past. This year, for the first time, that wasn’t true.

There can be no doubt about it. Things hadn’t been quite right for a long time. My joints hurt. I had a rash on my face. I sometimes had trouble swallowing, and acid reflux was occurring on a regular basis. My hands were swollen and I had trouble moving my fingers. Fatigue was my constant companion. If my hands got cold my fingers turned white or purple, a condition called Reynaud’s. Sometimes it hurt to breathe. I kept thinking that if things got worse I would go to the doctor, but I never became so sick that I could justifying taking off work. As many people with chronic conditions do, I just made adjustments and kept going.

Then, without any warning, my digestive system rebelled in a big way over the course of one weekend in early May. Colitis? You have got to be kidding me! Feeling pretty uncomfortable I kept close to home and worked on landscaping projects outside, read books, and worried. After two weeks I contacted my doctor.

Tests were ordered. Everything was negative: there was no obvious infection. Relieved, I decided to just give things a little more time. There was one test result that did nag at me, however. My renal function was a little low.

Two weeks later, lying on the couch with aching legs and abdominal discomfort, it finally hit me. I have a rash on my face. My knees hurt. I have Reynaud’s disease. I have a low renal function test result. When tested in the past I had a positive ANA (anti-nuclear antibody) test. This sounded like one of those cases presented at the weekly seminars when I worked in a rheumatology research lab…

Alarms went off in my head. Lupus! I called the doctor’s office and scheduled an appointment for an exam to be evaluated for lupus.

Lab Tests
Good grief! This is how much blood was drawn to do my rheumatology testing!

“How is it possible that you haven’t already been diagnosed?” my doctor asked me.  How indeed? Oh yeah. That adjusting and just keep going thing. She ordered a huge battery of tests for a comprehensive rheumatology screening, and told me no more gluten in case it was celiac disease. I was horrified. Celiac disease! I wasn’t prepared for that! “Celiac disease would be good,” she said. “We can treat that.” Believe it or not, at that moment celiac disease seemed like the end of the world. I left her office in a sad condition and counted the number of tests ordered while heading down the stairs to the lab. Twenty-two lab tests. Yikes!

Over the next week the test results slowly trickled into the patient portal where I could see them.  Everything was coming back negative. Because of the rheumatology research lab job, I had some idea about which antibody test results were linked to lupus. The big lupus markers were all coming back negative. I began to convince myself that I was a big over-reacting baby. Then suddenly a note came from my doctor telling me that she was sending me to rheumatology for a consultation and three tests I hadn’t seen before appeared in my inbox on the patient portal. Positive results for auto-antibodies associated with scleroderma and Sjogren’s Syndrome.

Pills in case
Look at the great pill case that my sister sent me to help me keep track of all these meds!

At the end of August, 2014 I was diagnosed with both of these disorders and my new rheumatologist started me on medications meant to slow down the progress of the disease and to treat the symptoms that I already have. Eight prescriptions and three over the counter medications!! I have the type of scleroderma that is referred to as limited systemic sclerosis (CREST). This is not good news.  I already have significant skin tightening on my neck, face and hands, and my digestive system has been impacted, but my heart and lungs are doing OK. In a strange way,  however, I feel lucky. Very, very lucky and thankful.  This Thanksgiving I continue to be thankful for what I have. I have been diagnosed, I’m on medication, I am retired and have time to knit…

This is just part of the yarn stash...
This is just part of the yarn stash…

Well, isn’t that a bitch! Here I am in possession of a world-class yarn stash, and I have a rare medical condition that may leave me unable to knit. The skin is getting especially tight across my right hand…

Luckily I am a master of adaptation. That whole adjust and keep going thing has prepared me for an event just like this.

Time to knit fast. Knit very fast! Just cast on and don’t look back.

Enjoy your gluten. 🙂