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.

10 Facts About Hidradenitis Suppurativa

According to the Hidrandenitis Suppurativa (HS) Foundation, HS is a chronic, painful skin disease that causes boils to form in the folds of the skin and has a profound impact on quality of life. Read out to find out 10 facts about this chronic autoimmune condition.

1. Hidradenitis Suppurativa (HS) is a common disease

Although HS was once thought to be a rare disease, peer-reviewed medical journals have stated that HS affects approximately 1-4% of the world’s population, when taking into account all the stages of the disease. This means that there are millions of individuals living with this skin condition.

2. It affects certain areas of the skin

HS commonly occurs in the areas of the skin that rub together, such as the armpits (axillae), groin, buttocks, and underneath the breasts. These areas are rich in apocrine glands, which produce sweat, and have many hair follicles which can get obstructed. These obstructed follicles will then progress into pus-filled abscesses and boils. The boils can feel like hard lumps, or clusters of inflamed lesions and sinus tracts (called ‘tunnels’) which give off chronic seepage and can scar.

3. HS is classified into three stages

HS is classified into three stages called Hurley Staging. This classification method allows medical professionals to assign a severity level to HS. The three stages are:

  • Hurley stage I – a single lesion without a sinus tract (‘tunnel’) formation
  • Hurley stage II – multiple lesions or areas impacted, but with limited tunneling
  • Hurley stage III – multiple lesions involving an entire area of the body, with more extensive sinus tract formations and scarring.

Keep in mind that these stages don’t necessarily take into account disease activity, measure pain, or the impact on one’s quality of life.

4. There are several risk factors

The exact cause of HS is unknown. However, experts believe that the condition is connected to hormones, genetics, and autoimmune issues. HS is not caused by an infection or poor hygiene, and it isn’t contagious.

Though the exact cause isn’t known, there are a number of risk factors that can increase one’s likelihood of developing the disease, including:

  • Sex – Women are about three times more likely to develop HS than men.
  • Age – HS most commonly occurs in women between the ages of 18 and 29. It rarely occurs before puberty, though individuals who develop the condition at an early age may be at an increased risk of developing more widespread disease.
  • Family history – It’s believed that inherited genes may play a role.

5. Lifestyle factors also impact the disease

There are also lifestyle factors that can impact the disease, including:

  • Obesity – Several studies have shown a correlation between being overweight and HS. This may be due to increased friction on one’s body and being more prone to excessive perspiration.
  • Smoking – Smoking tobacco has been linked to HS as well.

As a result, it’s recommended for patients to maintain a healthy weight and to refrain from smoking.

6. HS can cause various complications

Persistent HS, especially when severe, can cause a number of complications, including skin infections and scars. The scarring can also interfere with lymph drainage, which can result in swelling in the arms, legs, or genital region. Sores and scar tissue can also restrict one’s movements, or make it too painful to move, especially when the disease impacts the armpits or groin area.

7. HS can also impact one’s mental health

HS can also impact one’s self-esteem and well being. For example, the location of the skin lesions, as well as issues like drainage, scarring, and malodorous smell can cause embarrassment, and make patients reluctant to go out in public or engage in activities that may reveal their skin, such as swimming. The resulting social isolation can lead to overwhelming sadness or even depression. In fact, many patients with HS go undiagnosed for years because they are too ashamed to speak with a health care provider about their symptoms.

8. HS occurs in tandem with several conditions

According to the HS Foundation, research has found that certain health conditions (called ‘comorbidities’) commonly occur in tandem with HS. These conditions include metabolic syndrome, polycystic ovarian syndrome (PCOS), diabetes, inflammatory bowel disease, heart disease, acne, and more. HS is sometimes referred to in other countries as ‘acne inversa’, although it isn’t a type of acne.

9. There is no cure, but treatments can help

Treatment for HS depends on what clinical stage a patient is in and the severity of their condition. Mild HS is treated with antibacterial soaps, anti-inflammatory medications, and warm compresses. It’s also recommended to wear loose-fitting clothing. More severe forms of the disease may require antibiotics, oral retinoids, anti-inflammatory drugs, corticosteroids, hormones, and TNF-alpha inhibitors. Other treatments include laser hair removal, radiation therapy, carbon dioxide laser therapy and surgery to remove the affected area.

10. There is hope

If you or a loved one has been diagnosed with Hidradenitis Suppurativa, visit the Hope for HS website, which has an extensive library of patient resources, including information about wound care and listings for nationwide support groups. The organization also lists out clinical trials that patients can participate in, as well as recent research and news items, so that you can stay on top of the latest developments about the disease.

Thank you for stopping by Autoimmune Warrior. If this article was informative to you, please like, share and comment below!