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.

Baby with Rare Autoimmune Disease Seeks Stem Cell Donor

Boston De Castro smiles while in care of the Children's Hosptial
Boston De Castro has a rare autoimmune blood disease called HLH, and he desperately needs a matching stem cell donor to save his life.

A three-month old baby boy named Boston De Castro from Winnipeg, Manitoba, Canada is seeking a stem cell donor.

Boston suffers from a rare autoimmune disease called hemophagocytic lymphohistiocytosis, known as HLH for short. According to Cincinnati Children’s Hospital, HLH is a life-threatening autoimmune condition in which the immune system’s T and NK cells become overactive, causing damaging inflammation to the body’s tissues and internal organs. The condition is especially damaging to the liver, brain and bone marrow, where blood is made.

Symptoms of HLH include persistent fevers, rash, enlarged liver and spleen, anemia, low platelets and white blood cells, jaundice, hepatitis, liver failure, respiratory issues, seizures, and altered mental functions. Patients need to undergo blood transfusions, stem cell therapy and a bone marrow transplant, in addition to taking various medications to calm the immune system, including steroids and chemotherapy.

Boston first started experiencing symptoms only a few weeks ago, when he developed a fever, and then his liver and spleen became enlarged. Shortly after, his blood counts started dropping rapidly. This is when he received a bone marrow biopsy, and was diagnosed with HLH. The three-month-old is currently undergoing his first round of chemotherapy while his parents desperately seek a stem cell donor that can save his life. The added challenge, however, is finding a matching stem cell donor that is of mixed ethnicity like him – half-Caucasian and half-Filipino.

His mother, Simone Janetta, spoke to the Canadian Broadcasting Corporation (CBC), saying, “We are just begging the community. Anybody who is half-Filipino [and] half-Caucasian, even if you’re any other ethnic minority, just get on the stem cell registry. You could safe a life, just like our son’s.”

Simone Janetta with her son Boston De Castro
Boston’s mother, Simon Janettta, holds her son while her undergoes chemotherapy. Their family is living in hospital to ensure Boston receives round-the-clock medical care.

Her plea was heard not only by the CBC, but by the Prime Minister of Canada himself, Justin Trudeau, who took to social media to share Boston’s story. “Can you save Boston’s life? There are two ways you can help: If you’re half-Caucasian and half-Filipino, please reach out to Canadian Blood Services and see how you can become a stem cell donor. If you aren’t you can still share this story and spread the word.” The post has received over 23,000 likes and 11,000 shares on Facebook already.

Donors must be between 17-35 years of age, with a preference for males, to reduce post-transplant complications. According to the Canadian Blood Services, only 3.5% of stem cell donors in the database are of mixed ethnic background. Because HLH is believed to be genetic, the donor must be unrelated to Boston as well.

Boston’s father, Rex De Castro, added, “I’m kindly begging anyone with a mixed-race ethnicity to donate their stem cells to help my son survive. The chemotherapy and the steroids [are] a temporary fix, and he needs the stem cell transplant really bad.”

Rex De Castro holds his two children
Rex De Castro, Boston’s dad, cuddles his 2-year-old daughter, Beatrix and newborn son, Boston. Both Beatrix and Boston suffer from rare health conditions.

A GoFundMe page has been setup for Boston, which has garnered over $25,000 in donations thus far. The donated funds will be used to relieve some of the monetary stress associated with the De Castro family having to live in hospital, and also, towards the bone marrow match. Many people have posted encouraging words on Boston’s GoFundMe page, urging him and his family to stay strong.

To learn more about HLH, check out this YouTube video by the Cincinnati Children’s Hospital. To read more about Boston De Castro’s story, check out his story on the CBC news website. And, if you know anyone who could potentially be a stem cell match for Boston or other mixed ethnicity patients, please consider sharing this story with them; you could save a life.