Rare Autoimmune Disease Claims Australian Woman’s Life

Chris Ferguson (left) pictured with his wife Marcia Ferguson-Roa of Australia, were avid travelers prior to her devastating autoimmune diagnosis. Photo courtesy of the Sydney Morning Herald.

Australian couple Marcia Ferguson-Roa and her husband, Kris Ferguson, enjoyed spending their time sailing in their dream yacht. But in October of 2020, Marcia began to experience a myriad of strange symptoms that wouldn’t go away, and that kept her from her beloved pastime of sailing.

She experienced more fatigue than usual, and had a persistent dry cough. She also had ulcerating marks appear on her forehead and other parts of her body. Doctors weren’t able to determine what was wrong, until Marcia ended up in the hospital a month later.

That’s when she was diagnosed with a rare autoimmune disease called dermatomyositis (DM). Dermatomyositis is rare, affecting just nine in 1 million people worldwide. The specific type of dermatomyositis that Marcia had, however, was even less common; named MDA5 antibody positive dermatomyositis, it is more life-threatening than other forms of DM, since it affects the lungs. Only 5% of those with DM have this particular variation, making it extremely challenging to diagnose.

Myositis is a group of autoimmune disorders that cause muscle inflammation, and dermatomyositis also affects the skin. The Myositis Association Australia states that 1 in 200,000 people have some form of myositis. Unfortunately, some of the symptoms, such as muscle weakness and fatigue, are often overlooked as just the normal signs of aging, Christine Lowe, the Association’s President said.

Unfortunately, though Marcia fought hard against her disease, her condition worsened and doctors were forced to put her in a medically-induced coma. She never woke up, and one week later, she was pronounced dead. Her husband Kris was devastated to learn of her passing after almost 40 years of marriage.

“I told her I loved her and that we would talk tomorrow,” he said. “There was no tomorrow.”

Dr. Girgis, the head of rheumatology at St. Vincent’s hospital where Marcia was hospitalized, said more research dedicated to autoimmune diseases is necessary to find the root cause of why the body attacks its own tissues.

Interestingly enough, another man named Abu Jalil was treated for the same rare variation of dermatomyositis that Marcia had at the same hospital in Australia. When the local paper published a story about Abu’s plight, the community raised over $180,000 for his expensive treatment and medications, which aren’t covered by the country’s National Benefits Scheme. Thankfully, Abu’s condition is improving.

To learn more about Marcia’s battle with dermatomyositis, read the full article in the Sydney Morning Herald.

Thanks for stopping by Autoimmune Warrior! If you enjoyed this article, check out our other articles below:

Woman with Rare Autoimmune Disease Undergoes High-Risk Treatment

Shelley Clark-Collins and her partner Mark Doyle have travelled to Ottawa, Ontario so that she can receive an innovative treatment for her rare autoimmune disease (Photo: CBC News)

Shelley Clark-Collins, a 56-year-old woman from Saint John, New Brunswick, Canada, is looking to undergo a high-risk procedure to treat her rare autoimmune disease.

Clark-Collins lives with dermatomyositis, an autoimmune condition in which her body’s own immune system mistakenly attacks her healthy cells, causing inflammatory, painful and degenerative changes to her skin and muscles. According to Johns Hopkins Medicine, symptoms of the disease include rashes and spotting on the skin, swelling, stiff joints, muscle weakness and aches, difficulty swallowing, voice changes, fatigue, fever, and weight loss. Dermatomyositis can also cause other autoimmune and connective disease conditions, like lupus, and increase the risk of developing cancer.

Dermatomyositis is extremely rare, affecting fewer than 10 in 1 million people, according to an estimate from the National Organization for Rare Disorders (NORD). The disease most often occurs in adults ages 40-60, and juvenile dermatomyositis occurs most commonly in children and youth between the ages of 5 and 15.

Because of its rarity, Clark-Collins had a difficult time getting diagnosed. As a hairdresser, she suddenly found that she was so weak, she could no longer hold up a blow dryer or stand for long periods of time. She was falling down frequently, couldn’t get out of the bathtub, or lift her bed sheets. She was later diagnosed with multiple sclerosis (MS) after a neurologist found a lesion in her brain.

“But what he was treating me with [for MS] wasn’t working,” explained Clark-Collins. After seeing numerous specialists, she was diagnosed with “everything but the kitchen sink,” she recalls, including cancer, arthritis, and Grave’s disease. A dermatologist even told her that she should see a psychiatrist for Empty Nest Syndrome as a result of her kids moving out.

Despite these setbacks, Clark-Collins was eventually correctly diagnosed with dermatomyositis through blood work and muscle biopsies. Since then, the disease has affected her health and wellbeing substantially. Prior to developing the disease, she was an avid marathon runner and outdoor enthusiast, enjoying kayaking, rock climbing, and skiing. Now, she says that walking to her car is a feat. She sleeps in a chair because getting in and out of bed is too difficult with her muscle weakness. She has difficulty swallowing and talking, and has suffered irreparable damage to her heart and lungs. She’s had a stroke, blood clots, and a life-threatening sepsis infection.

Dr. Harold Atkins is pioneering a new treatment designed to help patients with dermatomyositis, a rare autoimmune disease.

However, Clark-Collins has found hope in a new procedure being pioneered by Ottawa, Ontario-based Dr. Harold Atkins. The innovative procedure is a combination of intense chemotherapy and a blood stem cell transplant. The chemotherapy will destroy her diseased immune system, and the stem cells from her bone marrow will be removed, purified and re-injected into her body. It’s a risky and aggressive procedure that aims to reset her immune system – but there are no guarantees that it will work. With the COVID-19 pandemic still raging, re-setting her immune system also leaves her extremely vulnerable to contagious diseases, meaning she could easily die should she catch the virus.

Despite the risks, Clark-Collins says she’s “very excited,” and is looking forward to the possibility of reclaiming her life. As a mother of two adult children, she says “it’s been hard on [my kids] to watch me decline like that.”

Plus, she’s running out of options. She has developed a resistance to several of her medications already, she can’t take large doses of steroids for much longer, and her opioid painkiller can cause an addiction. She also goes to the hospital once a week for plasmapheresis, a procedure in which her plasma (the liquid part of the blood) is separated from her blood cells, and is replaced with new plasma. But this treatment isn’t guaranteed to work forever.

With this new treatment, the hope is that her dermatomyositis will go into remission. Clark-Collins says she dreams of being able to regain her independence, start running again, and just to be able to hug her children without excruciating pain.

“Just maybe [I’ll] get a little big of my life back,” she said hopefully.

To learn more about Clark-Collins’ battle with dermatomyositis, read the full story on CBC News.

Queen Latifah Raises Awareness about Scleroderma

Queen Latifah with her mother, Rita Owens, who passed away in 2018 after a five-year battle with Scleroderma. Photo credit: Johnny Nunez.

Queen Latifah, an actress, producer and singer, has become an advocate for those living with scleroderma after losing her mother, Rita Owens, to the disease in 2018.

Scleroderma, or systemic sclerosis, is an autoimmune disease that translates from Greek to ‘hard skin’, since hardening of the skin is one of the most visible manifestations of the disease, according to the Scleroderma Foundation. Symptoms of scleroderma can vary widely from person to person, and its effects can range from mild to life threatening. One of the most life threatening effects of scleroderma is that it can cause tissues on major organs to harden. In approximately 25% of patients, scleroderma results in interstitial lung disease, which causes scarring of the lungs and makes it difficult to breathe, which may also be fatal for the patient.

Unfortunately, this is what happened to Rita Owens. A lifelong educator, she passed out when teaching in her classroom. Though she had experienced shortness of breath and dry cough for a while, her family had thought it was just a result of her getting older. It wasn’t until she fainted in front of her students that various tests were done and specialists consulted, when she was finally diagnosed with systemic sclerosis-associated interstitial lung disease (SSc-ILD).

Before her passing, Rita Owens was one of approximately 300,000 Americans who suffer from Scleroderma.

In an interview with Good Housekeeping, Latifah said that the diagnosis came as a total shock to her family, saying, “That was terrifying because now we had to figure out, ‘what does it mean to have this autoimmune disease?’ I had never heard of scleroderma before.”

According to the Scleroderma Foundation, scleroderma affects an estimated 300,000 Americans. It’s onset is most frequent between the ages of 25 and 55, and women are four times more likely to have the disease than men. Localized scleroderma is more common in children, whereas adults are more likely to suffer from the systemic version of the disease that is more widespread in the body. Though the exact cause of the disease is unknown, it’s believed that genetic factors can make one more susceptible to the disease, and that it involves an overproduction of collagen.

Since little is known about the disease, Latifah is partnering with Boehringer Ingelheim Pharmaceuticals to raise awareness as part of the More Than Scleroderma campaign. “The right information and resources are out there and you can start by visiting SclerodermaILD.com. My hope is that I can help make others’ journey with SSc-ILD a little less challenging.”

Though Latifah was devastated to lose her mother after a five-year battle with the disease, she hopes to make a difference in her memory. “I found that knowledge is power when it came to managing my mom’s health, and I want to share what I’ve learned to help others. Anything my mon could do to help someone else have an easier journey, she wanted to be a part of – so it’s important for me to carry on my mom’s mission,” she explained.

To learn more about Scleroderma, visit the Scleroderma Foundation website.