Tag: Anti-centromere antibodies

The Scleroderma Chronicles: World Scleroderma Day

Today is World Scleroderma Day. Tonight the Niagara Falls will be illuminated blue and white in recognition of the day. All this month (June) there have been walks and outreach to raise awareness of this disease and to raise money for scleroderma research, and scleroderma patients all over the world have been urged to post pictures of their faces (and smiles) to made this disease more real and relatable.

Rather than flash my smile I have chosen to show this picture of me and MacKenzie, wrapped in handknits, fighting my way through a flare one frozen January. Good times! See the light in the background? It reminds me that every flare comes to an end.

The purpose of this day is to try to raise awareness of an illness that is mostly invisible and relatively unknown.

So what is scleroderma? It is a rare autoimmune disease that is a member of the rheumatic diseases family. The name “scleroderma” means hard (sclero) skin (derma), which is the most visible symptom. Scleroderma is the general name that is applied to a group of connective tissue diseases that may target only the skin, or the skin plus internal organs, or just the internal organs themselves. The words that are used to describe my type of scleroderma (limited systemic sclerosis) are rare, chronic, progressive, disabling, and possibly life threatening. This is a lot to wrap one’s head around, so I’ve decided to break it down.

Rare: Here in the United States the CDC has defined a disease with fewer than 200,000 patients as “rare”. Systemic sclerosis, with about 1-2 diagnosed people for every 100,000 citizens fits the bill. To be rare means your illness struggles for research and treatment funding as the patient population is small and almost no one is personally impacted by the disease in the general population. Hence, Scleroderma Awareness Month and World Scleroderma Day. Thank you, Niagara Falls!!

Auto-Immune Disease: The immune system, designed to protect us from foreign invaders like pathogens,  is attacking some of the components of normal cells in scleroderma patients. The exact components can be identified using the antibodies of scleroderma patients and they are essential proteins found in the nucleus of the cell. My antibodies are attacking a protein found at the kinetochore of dividing chromosomes. I can’t help but wonder what the heck has happened here that I ended up with antibodies like these? I also eventually wondered if my cancer risk is increased since there is something off with this critical structure used in cell division (it is).

Connective Tissue: I used to try to explain this type of tissue to my AP Biology students. Connective tissue… well… it connects. It is what holds your bones together to form the skeleton. It gives support and stretchiness to your skin. It is involved in all the organs of your body, and holds the organs in systems together. It is essential to organize your muscles. In systemic sclerosis, all of this tissue can be involved in an inflammatory attack of the immune system and scarring occurs. Skin gets thick; hands curl, joints won’t bend, smiles  twist and faces harden. Muscles and joints hurt. The smooth muscle in the digestive tract can be so damaged that organs don’t work right. Blood vessels are damaged and spasm, cutting off circulation to extremities and organs. The heart can get scarred. Scarred lungs prevent oxygen passage. Scleroderma, invisible to the outside viewer, can be devastating to the patient.

Vascular tissue damage causes circulation loss to my fingers and toes (Raynaud’s Phenomenon) which I fight by wearing fingerless mitts and wool socks. Works great and the Zen of knitting brings its own benefits.

Chronic: There is no cure, and it never ends. There are, however, treatments for individual impacted organs that are really helpful.

Progessive: Damage accumulates over time and conditions worsen. My doctors are monitoring my kidneys, heart, lungs and GI system. So far I am doing pretty well, but my GI tract is taking the most damage.

Disabling: Yep. It is getting really hard to walk, and I just don’t fit all that well into the world anymore since my diet is very restrictive, air conditioning isn’t my friend, and sunshine makes me go into a flare. Right now I don’t need supplemental oxygen, but if that comes back it will further restrict my independence.

Life-threatening: It took me months to think this one through, but eventually I did google “life expectancy of systemic sclerosis” and discovered that for me, with my treatment plan and risk factors, survival rate is about 75% for 10 years after diagnosis. Overall the death rate of scleroderma is 50%. Oh. Now I know. Who wants to live forever?

This week I wrote a letter to my congressman asking him to sponsor a bill that would fund research into fibrotic diseases like scleroderma and cystic fibrosis. I haven’t heard back, but maybe if he has heard of one of these diseases or knows someone impacted by scleroderma he will do it.

That’s why we do World Scleroderma Day.

New Chinese Curse: May You Have An Interesting Disease

It has been two months since I started the drug methotrexate for my systemic sclerosis (scleroderma). I put off starting the drug for a few months as I was concerned about potential side effects (well, for one thing, it increases the chance that I will develop cancer. Since I’m now at high risk for lymphoma that kind of gave me some pause…), but struggling with fatigue and other annoying symptoms I finally made the call to my rheumatologist and started on the drug.

The first month was a little hard; nausea, headache, more fatigue, and what I called the dizzy-wobblies. My hair started falling out. By the second month, however, I began to notice that my muscles had stopped hurting. I had more energy. The edema in extremities was definitely much better. I was out of the house and doing much more. Hey, this is improvement. Go methotrexate! I was ready to make the pom-poms and sign up for the cheer squad.

Then more downsides began to emerge in the second month. I started to notice that my knees really hurt the day after I took the methotrexate pills. As always, I checked the Internet to see if anyone else had noticed this. Yep. It’s a thing.  I decided to baby my knees a couple days a week and to keep on with the drug. Then my back started to hurt, I noticed a rash on my arms the same day that my knees hurt, and itching became a thing. My ribs started up with shooting pains. The pain spread to the entire right side of my lower ribs, I struggled to breathe and it was hard to raise my arm. Yikes!! The pain was so widespread it didn’t seem reasonable that it was just a cracked rib…

IV in arm.
Here I am with the IV tapped off so I could make the trip to the CAT Scan machine.

That’s how I ended up at the acute diagnostic center run by Kaiser for we after-hours folk that don’t want to go to the ER. (The ER has sick people. When you are on immuno-suppressants you avoid sick people like the plague!) The nurse was nice. The doctor was great. The words “possible blood clot in your lung” and “we want a CAT scan right away” were said. I would have been more upset if they hadn’t also just said “we’re giving you morphine to get this pain under control”. I would have hugged that nurse if I could lift my arm.

Then she blew it. As she stuck me with the needle to start the IV she said, “I once worked with someone who had scleroderma so I’ve heard of it before. Such an interesting disease. She did develop heart problems though, which was sad since she was so young.” Great. This is sort of like a Chinese curse: May you have an interesting disease. I grumped about her comment to my son who was there with me. “Well, you have to admit, it is kind of interesting,” he said.

Aside: It is an interesting disease. One of the great ironies of my life is that I have a degree in molecular biology and once worked in a rheumatology research lab on a scleroderma project. My boss Dr. Angeline Douvas and I at that time used the auto-antibodies from scleroderma patients to capture and identify the protein SCL-70 (topoisomerase). We spent a lot of time speculating about what was going on in these patient’s genes and why that was manifesting itself the way it was in their clinical symptoms. We were suspicious that it might be triggered by a virus. Here’s the paper: I’m the second author. Angie would find my diagnosis to be so interesting but she passed away in 2000 before I became sick. Yep, it is all so interesting. Anti-centromere antibodies! What the heck is going on here?! This is an important disease that should be researched not just for a cure to help people who have it, but to also gain essential understandings about cells and genes that can be used in the treatment of many other diseases. As it turns out there is a bill in congress right now concerning scleroderma and fibrosis research and you can contact your congressperson using this link.

Still, I found the nurse’s interested detachment from my personal situation to be somewhat appalling. Still in pain I was wheeled off for the CAT scan, and then waited for my chat with the doctor. NOT a blood clot. NOT my liver. They could see old breaks in my ribs (thank you osteopenia) but NOT a current one. It turned out that it was inflammation of the cartilage in my ribcage, a condition called costochondritis. It’s a scleroderma thing, just another bump in the road when you are dealing with a complex medical condition. Fabulous. The Internet tells me that it usually resolves within a year. OMG! A year??!!! That’s a lot of pain killers! Oh wait; that’s a lot of knitting! Best to look on the bright side.

The next morning my rheumatologist’s office called to let me know I should stop taking the methotrexate. Farewell, methotrexate. It was nice getting to know you but you didn’t play nice with my cartilage. I now have an appointment with my rheumatologist on the 20th and he will discuss my new drug options with me then. I’m sad to let methotrexate go, but so glad that there are other drugs out there waiting for me to try them out.

Just another day in the life of an interesting disease.