What it's Like to Live with Scleroderma

Debbie Magnuson received a diagnosis of scleroderma in 2002. Debbie’s once simple life, filled with love for her 5 children and a passion for her job, friends and activities in the community, transformed to accommodate her complicated medical journey. Caught in an onslaught of symptom after symptom, with no real cure for the root cause of scleroderma, Debbie fights an uphill battle.

Debbie Magnuson

Debbie began to notice changes in her body over a year prior to her scleroderma diagnosis. 

While riding the ski lift at the end of a long day on the slopes, her hands hurt tremendously and had turned deathly white, from a day spent in the cold. Concerned by this, her primary care physician sent her to a rheumatologist, who diagnosed her with Raynaud’s Syndrome. Raynaud’s Syndrome is quite common in scleroderma patients but not everyone diagnosed with Raynaud’s has scleroderma as well. For the next year, she received a plethora of misdiagnoses before a doctor finally concluded that she had scleroderma.

For those who are unfamiliar with scleroderma, simply put it is a chronic and often progressive autoimmune disease in which the body attacks its own immune system. It is known to cause thickening and tightening of the skin, can cause damage to internal organs, and occasionally results in the formation of calcium deposits inside the tissues (calcinosis). Symptoms vary from mild to severe, and it can become life threatening. Presently, there is no cure, however medications can sometimes offer relief to patients.

What made Debbie’s scleroderma so challenging to diagnose? 

Like most autoimmune patients, Debbie’s journey to a diagnosis was a struggle, thanks to the ambiguous symptoms leading to a barrage of questions hitting off the mark like, “have you seen a psychiatrist?”. Since diagnosis, Debbie’s case has become particularly unique. Unlike most scleroderma patients who develop calcinosis inside their fingers,  she developed these bumps on the back of her neck, her right shoulder, and her left elbow -- greatly disrupting her daily quality of life.

Debbie could no longer bend her fingers, get out of bed without help, rearrange her bed sheets at night, or even brush her hair. She had become too weak -- dropping from 125 pounds to a mere 100 pounds. As her skin tightened and hardened, she needed more and more help with simple tasks that most of us take for granted. 

Since her diagnosis, Debbie has tried a whole host of treatments wrought with complications -- to no avail. 

She enrolled in a Boston based clinical trial, testing the effectiveness of alpha beta interferons on scleroderma patients. Throughout this treatment, her skin softened up, creating small victories each day. She was able to sit down on her own, walk more comfortably, and operate with renewed independence.

Unfortunately the FDA did not approve this treatment for scleroderma patients in the end. While many patients, like Debbie, experienced improvements in their conditions, there were many patients who did not.

After the conclusion of the trial, Debbie’s condition worsened -- she began to experience a crippling pain on the left side of her neck. Doctors ran tests but no one could put their finger on the problem until a stroke of luck occurred. A radiologist technician remembered reading something about a scleroderma patient who had developed calcinosis. With that clue in mind, Debbie and her husband headed to Pittsburgh, where she was officially diagnosed with calcinosis.

She enrolled in a Boston based clinical trial, testing the effectiveness of alpha beta interferons on scleroderma patients. Throughout this treatment, her skin softened up, creating small victories each day. She was able to sit down on her own, walk more comfortably, and operate with renewed independence.

The calcinosis had already advanced substantially, intertwining in her spine at the base of her neck. Her doctor felt the best available option was pain management, and prescribed a drug called Coltrizine, designed to manage painful swelling caused by calcinosis. Unfortunately it didn’t help Debbie much.

To top it all off, she developed acid reflux and constant shortness of breath -- indicative of calcification of the lungs.

Again, Debbie’s scleroderma was a unique case, as calcification of the lungs typically manifests shortly after a patient's initial diagnosis, Debbie saw symptoms with her lungs several years after her diagnosis. The calcification left her with the lung capacity of a lifelong smoker -- despite the fact that she never smoked a day in her life. Debbie’s options at the time included accepting twelve weeks of Cytoxin, a drug used to treat cancer, or be placed on oxygen. She chose to fight through the crippling side-effects of Cytoxin to avoid a lifetime stuck on oxygen.

From that point forward, Debbie’s scleroderma has offered her no relief.

When the top bone in her pinky finger resorbed to the point that it was detached, the tip had to be amputated. The crippling pain in her neck returned. The calcinosis spread into her elbow. Her pinky caused her agonizing pain. Her left elbow froze in a permanent right angle; she can’t straighten it or bend it.

Debbie received a neck surgery that decreased her pain, but even this came with a sacrifice: she can no longer turn her head.

Left Elbow

Debbie’s frustrations grow with each day spent in pain.

“I don’t like it.” She said of her daily life. “I love sleeping on my side but I can’t. The arm won’t go flat. I don’t sleep very much at all. I can’t cook anymore...well I try. But I suffer. I’m afraid to go walking by myself because I get so out of breath.”

Scleroderma has changed her features too, “My jaw has receded. I can talk but sometimes my teeth get in the way and I can’t talk with the way they’re growing. I have no lips anymore.”

At one point, she opted to have elbow surgery, and even asked the surgeon to cut off her pinky finger -- she was in so much pain that she wanted to amputate a part of her own body.

At one point, she opted to have elbow surgery, and even asked the surgeon to cut off her pinky finger -- she was in so much pain that she wanted to amputate a part of her own body.

This urge to amputate has since grown to include her arm, as her pain spreads. Doctors struggle to help with some wounding her spirit with statements such as, “I don’t know why you’re in pain, I don’t even know what this is, I’ve never seen anything like it,” and, “I don’t blame those other doctors because I’ve never seen anything like this either.”  

Most recently, her doctors found another growth of calcinosis on her spine pushing up against her esophagus and making it difficult for her to swallow food, but for Debbie, there is nothing they can do to help at this time. Doctors are still unsure whether performing surgery would even help -- far more research is needed to help people with complicated diagnoses’ like Debbie’s.

“I can feel [my health] deteriorating. I can do less and less. I want to play with my grandchildren but I can’t.” Debbie’s health sits at a dead end until research improves.

Currently, there are no clinical trials available for Debbie. She is more than willing to travel near and far, but she is also ready to volunteer her body for any trial that could potentially bring her some relief.

“Help.” She says, “If you want to take a look at me, if there’s anything I can do for you, I’m here.”


Her husband describes the urgency for research of unique cases like Debbie’s, “You don’t know where things are going to lead, there’ve been many cases in the history of science where serendipity causes breakthroughs. Just because Calcinosis in the elbow may be a very small percentage of the population, if you find what causes it, that could have ramifications over something much, much broader. You don’t know where that research is going to lead.”

Lexey and Debbie
lexey
Lexey Lutz is a mental health patient advocate who spent her summer working as an intern for Clara Health.