Living with Scleroderma

Reflections on the Messy Complexity of Chronicity

scleroderma research

Guinea Pig

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Over the four decades I’ve had scleroderma, I have occasionally participated in research. One of the first studies I signed up for was in the mid-’90s, a trial of medications for Raynaud’s at Boston Medical Center. It was a randomized double-blind study that involved taking a daily pill, recording my experience with Raynaud’s in a journal, and coming to BMC every so often for a check-up with the lead investigator, the late Dr. Joseph Korn. Dr. Korn was responsible for BMC becoming a research center for scleroderma, and his successor, Dr. Robert Simms, became my rheumatologist until his retirement a few years ago.

Which is to say that, even though I’m pretty sure I got the placebo in the Raynaud’s study (no improvement), the long-term benefit was that I ended up being treated by one of the top scleroderma rheumatologists in the U.S. as a result of my participation. I also realized, after driving into Boston on a semi-regular basis, that I could expand my options for work to include that city. Indeed, within about a year, I landed a job as marketing director at a small college in a Boston suburb, a position I held for a dozen years.

Even before the Raynaud’s study, I contributed tissue samples from my placenta after my younger daughter was born to researchers at the University of Pittsburgh. My hands have been photographed and written up in medical journals. For several years, I participated in Grand Rounds at BMC, to help educate young medical students about scleroderma. And I’ve served in a focus group to test intake forms for patients with scleroderma.

I’ve also given blood work for various studies over the years, though I draw the line when it comes to tissue samples from my hands. Given my history with ulcers and long healing times, I don’t want to aggravate my hands more than necessary, even for science.

Most recently, last week I received a call from the cardiology fellow who helped administer my right heart catheter stress test for pulmonary hypertension, to ask if I’d be interested in participating in a study of a non-invasive version of that test. The investigators want to know if a stress test that takes measurements using an MRI would be as accurate as the invasive version that I did. I said I’d be willing to do it, but in a few months. I just need a break from all the measuring. But I do want to help, especially if it means sparing others from the heart cath version, which, as I’ve written here, is no fun.

The other study I’m participating in currently is about cognition (related to aging, as opposed to scleroderma). This one involves playing a video game on an iPad at least once a month for a year. You have to do a variety of tasks that require you to navigate an obstacle course while capturing certain shapes. Conceptually, it’s straightforward, and I do okay. No decline, at least, in my scores. But the problem with the game itself is that it requires manual dexterity that I do not have. So it’s not really measuring my cognition as much as my ability to manipulate my fingers. I’ve mentioned this to the researchers, and they’re aware of the issue. But I’ll continue, anyway.

I write this not to pat myself on the back, but to encourage all of you who are able to take the time, to consider participating in scleroderma research. We’re a relatively small cohort, and whatever information researchers can glean from our experiences will help move us closer to a cure. It’s often easy, and the personal benefits—as I found with the Raynaud’s study— can be significant. If you are not being seen at a research center, as I am, you can find more about studies looking for participants on the Scleroderma Research Foundation website.

Evelyn Herwitz blogs weekly about living fully with chronic disease, the inside of baseballs, turtles and frogs, J.S. Bach, the meaning of life and whatever else she happens to be thinking about at livingwithscleroderma.com. Please view Privacy Policy here.

Image: Bonnie Kittle

If I Had a Billion Dollars

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Al and I were sitting at the dinner table Sunday night, finishing our meal of salad plus macaroni-cheese-and-tomato-sauce casserole. “The Power Ball is worth over a billion dollars,” he said ($1.4 billion, to be exact—but who’s counting).

rainbow-1393626-639x391“Really?” I said. “What would you do with a billion dollars? I mean, whatever was left after taxes?” (Even if it was less than half, that would still be a whole lot of money.)

We agreed that our first priority would be to pay off all debts—our mortgage, the equity line, the girls’ college and grad school loans. We’d make sure their futures were financially secure. And we agreed that our second priority would be to set up a charitable foundation.

“Who would you give the money to?” Al asked.

I began enumerating—certainly I’d donate to scleroderma research, also our favorite charities and our synagogue. I’d give a lot of money to climate change research, like how to desalinate sea water, alternative methods of farming during droughts, better ways to control coastal flooding. I’d fund interfaith dialogue and Middle East peace initiatives. Grants to fledgling artists and writers. For starters.

“What else?” he asked.

“Well, I’d fix up the house, do all the projects we’ve put off. Maybe I’d want to sell it and downsize.”

“Downsize? With all that money?”

“Sure. Then we could buy vacation places around the world. Except they’d be a lot of upkeep.” (So much for downsizing.)

“It wouldn’t matter,” said Al, caught up in the game. “We’d have enough to pay for a home on Block Island.”

“Okay, then we could also have an apartment in Tel Aviv and a place on the French Riviera. And I’d want to travel. First class. Go to Antarctica.” (I could certainly afford to buy whatever gear I needed to stay warm, there or here, for that matter.)

Al smiled. He began to clear the dishes.

I imagined buying custom-made shoes for my hard-to-please feet and any clothes I wanted.

“You could get a personal trainer,” he said, picking up my empty dinner plate.

“Yeah,” I said, “and I’d want to put aside enough money so we’d be able to afford in-home care, 24/7, for when we get older, so we’d never have to live in a nursing home.” (Might as well be a little practical about the future with all that imaginary money. Certainly no more worries about medical expenses!)

What about work? We agreed we’d have our hands full managing our foundation, even if we hired staff to run it for us. We’d also be busy traveling. The rest of the time, I’d want to write my novel.

“Better buy some tickets,” I told him. (I can dream, can’t I?)

Evelyn Herwitz blogs weekly about living fully with chronic disease, the inside of baseballs, turtles and frogs, J.S. Bach, the meaning of life and whatever else she happens to be thinking about at livingwithscleroderma.com.

Image Credit: Yarik Mishin

Imagine

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Passover this past weekend was extra special. A few hours before we were scheduled to begin our seder on Friday night, we learned that one of our cousins received the all-clear on her lymphoma, following six months of chemotherapy. There were big hugs all around when she and her family arrived for dinner.

A central theme of the seder is retelling the story of the Israelites’ Exodus from Egypt, as if you, personally, were escaping from slavery to freedom. The word in Hebrew for Egypt is Mitzrayim, which means “a narrow place.” So the metaphor had exceptional resonance at our table that evening, and again Saturday night, when we repeated the seder at our cousins’.

Then, on Sunday, I learned that the beloved husband of a childhood friend had died the day before of ALS. They were married only a few short years. The words of comfort I shared with her seemed so shallow compared to her loss.

Our bodies can betray us in so many ways.

There are never any guarantees that a treatment will work for a particular disease for any given individual. I am profoundly grateful that our cousin has responded so well to chemo and is on the path to full recovery from cancer.

My friend’s husband, however, had no such options. ALS has no cure, although research is progressing to identify the genetic underpinnings of the disease and treatments that may slow the deterioration of nerve cells.

According to the ALS Association, about 30,000 Americans may have the disease at any point in time. By contrast, figures from the American Cancer Society project more than 1.6 million Americans will be diagnosed with one of the four major forms of cancer this year—colon/rectal, lung, breast and prostate. And that’s not counting the myriad of other ways cancer can attack our bodies. No wonder a preponderance of research dollars go to finding a cure for “the emperor of all maladies.”

Scleroderma research for a cure faces similar hurdles as ALS research. With Congress deadlocked over basic federal spending issues, let alone medical research for rare diseases, the need to find other resources to support this important work has never been greater.

Where could it come from?

Here are some mind-blowing figures:

It’s not that we as a nation don’t have enough money to support medical research for rare diseases. It’s just a matter of priorities and the need to make a commitment, as a society, to be responsible for each other’s well being and not only for ourselves.

Imagine, for a moment, what it would be like to live in a country where we spent more on finding a cure for scleroderma or ALS or any number of horrible, painful, debilitating diseases than we do on all those half-eaten snacks that get tossed in the garbage.

Imagine.

Then please consider donating to the Scleroderma Research Foundation or the Scleroderma Foundation—or to the ALS Association.

Thanks for listening.

Photo Credit: a.s.ya via Compfight cc

Evelyn Herwitz blogs weekly about living fully with chronic disease, the inside of baseballs, turtles and frogs, J.S. Bach, the meaning of life and whatever else she happens to be thinking about at livingwithscleroderma.com

Ray of Hope

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Nothing like starting the new year with some good news about scleroderma research. In my email box last week, I found this item in the Scleroderma Research Foundation’s monthly eNewsletter (12-30-13):

Researchers Prevent and Reverse Mice Fibrosis in a Mouse Model of Stiff Skin Syndrome; Study Shows Promise for Scleroderma

I read on, heart quickening:

Dr. Hal Dietz and his team at The Johns Hopkins University have made a key discovery that may have broad implications for future scleroderma therapy. In a report in the November 7, 2013, print issue of the premier scientific journal, Nature, the researchers demonstrated that integrin-modulating agents (integrins are molecular receptors that mediate the attachment between a cell and its surroundings) can stop fibrosis in a genetic mouse model of scleroderma-like skin and, more strikingly, that established fibrosis can actually be reversed by the same agents. The Scleroderma Research Foundation has supported the work for the past six years.

In other words, it may be possible, some day in the future, to reverse skin stiffening that is the cursed hallmark of scleroderma.

Here’s a bit more explanation from the same piece:

In the SSS mouse model and, seemingly, in scleroderma, there is a fundamental process that goes awry: cells in the skin lose the ability to attach to the extracellular matrix and to sense their surroundings. Those cells then become activated and stimulate an immune response that causes the surrounding cells to produce excessive amounts of collagen, resulting in fibrotic skin. What’s most exciting is that the Dietz lab discovered a strategy to suppress the abnormal activation of the immune cells. In doing so, they also found that they could not only prevent, but also reverse established skin fibrosis.

You can read the full news release here.

There is so much we still do not know about the causes of scleroderma and potential cures. But the Johns Hopkins study gives real hope that somehow, someday, this disease will have a cure. Maybe not in my lifetime, but, then, who knows?

Both the Scleroderma Research Foundation in San Francisco and the Scleroderma Foundation in Danvers, Massachusetts, raise and distribute millions to find a cure. But they need help. There is just not enough funding through the National Institutes of Health for the research that remains to be done. Scleroderma is simply not up there on the top ten list of diseases-that-affect-enough-people-to-get-more-funding.

So, it’s up to all of us who are affected by this mysterious and disabling disease, friends and loved ones, to help out. Please, even though it’s past December 31, consider making a contribution.

Thank you, and profound thanks to everyone at both Foundations for all you do to help those of us who continue to fight our daily battles, living with scleroderma.

Photo Credit: Kuzeytac (Hopefully Back) via Compfight cc

Evelyn Herwitz blogs weekly about living fully with chronic disease, the inside of baseballs, turtles and frogs, J.S. Bach, the meaning of life and whatever else she happens to be thinking about at livingwithscleroderma.com.

Miracle Quest

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Twenty-six years ago this fall, I got on an airplane and flew to Pittsburgh to see Dr. Virginia Steen, one of the pioneering rheumatologists in the field of scleroderma research. She was kind, thoughtful and clear: I had systemic sclerosis, I was on a risky path, and I needed to start taking d-penicillamine (not to be confused with penicillin), an immunosuppressive medication that was, at the time, one of the main treatment modalities.

The drug was not without its risks and critics, and it has since been discredited in some of the medical literature as ineffective in treating scleroderma.

But you will never convince me of that. Six months after I started taking it, the wrinkles in my forehead began to reappear. Within a couple of years, the darkened, tight skin on my forearms had receded and my veins once again contoured the backs of my hands.

Most notably, I felt better—as if someone had switched on the light inside my brain that had been dimmed since my symptoms first emerged five years earlier. So much better, in fact, that I travelled back to the University of Pittsburgh and got Dr. Steen’s clearance to taper off the penicillamine, and, if I did okay without it, to try to get pregnant. I did, and I did, and our younger daughter is now 21.

Everyone’s course with this complex, debilitating disease is different. Better treatments have emerged. But I consider myself very lucky. When I saw Dr. Steen the second time, she told me she had believed when we first met that I was headed for a very difficult course. Had I not responded so well to the medication, I imagine I would be living, if still living, with severe disfigurement and many more complications.

I was recently thinking of Dr. Steen (now at Georgetown University Hospital in D.C.) after skimming through an online scleroderma forum. Someone had posted a question about her. I added my two cents’ worth. Many had shared similar, glowing anecdotes. A couple told angry, critical stories of their visits.

So much of dealing with this or any other complicated, chronic illness, depends on finding medical specialists you can trust. I’m fortunate to have had the resources to see Dr. Steen years ago and to live an hour’s drive from Boston Medical Center, with access to some of the best scleroderma specialists in the world. I’ve learned volumes from them and from my local rheumatologist, a man who has been treating me since 1985 and who understands the disease very well, but who also knows and admits the limitations of his own expertise.

In the scleroderma forum discussions, there is a lot of anguish, fear, pain. There are some very knowledgeable people who share good advice about managing the disease and all the information you need to track in order to manage your care. There are also many seeking miracles, people who distrust their physicians and look to fellow travelers for tried-and-true solutions.

Unfortunately, for some, that distrust is well-founded. Scleroderma is rare enough that there are still far too many internists and rheumatologists who aren’t well versed in its many symptoms and ramifications. Some patients get really bad advice and struggle to get an accurate diagnosis and appropriate treatment. Who else to trust but those who are also going through the same thing?

While some homegrown advice is useful, however, some of it is misguided. When you’re scared, without a solid understanding of the disease, it’s difficult to sort it all out.

As one who has benefited profoundly from expert medical care, I believe it’s essential to get help from knowledgable medical professionals who specialize in scleroderma. This is a select group, but they are worth the time, travel and expense to see. Both the Scleroderma Foundation and the Scleroderma Research Foundation in the U.S. provide resources to find local and regional scleroderma specialists.

There is no miracle cure for scleroderma—not yet. Both foundations are working hard to support research that will eventually lead to that cure. In the meantime, the real miracles, for me, are that I found a team of physicians who have helped me stay as well as I am able, that I have the loving support of my family and friends, and, above all, that my body, for all its malfunctioning, still works as well as it does.

That, and a good night’s sleep, are a lot to be grateful for.

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Evelyn Herwitz blogs weekly about living fully with chronic disease, the inside of baseballs, turtles and frogs, J.S. Bach, the meaning of life and whatever else she happens to be thinking about at livingwithscleroderma.com.