In the summer of 2014, Dan Muscat’s fingertips started to tingle. It felt like tiny shards of glass were piercing the skin underneath his fingernails. Over the next weeks and months the pain crept into his hands.
His family doctor thought it might be arthritis and prescribed a steroid to get things under control. “Within days, the disease sped up,” says Muscat. “It went from the top of my head to my toes. My ankles and my feet were so inflamed I couldn’t walk 20 feet.”
Muscat, who owns a jewelry business in St. Thomas, Ontario, was referred to a rheumatologist who immediately recognized what was happening to him: “Dan had rapidly progressive early onset diffuse scleroderma,” says Dr. Janet Pope of St. Joseph’s Health Care in London.
Scleroderma — from the Greek words for “hard” (sclera) and “skin” (derma) — is the term used for a group of rare autoimmune diseases that, according to the Mayo Clinic, involve hardening of the skin and connective tissues due to an overproduction of collagen. Diffuse scleroderma is a systemic type of the disease, meaning it affects not only the skin and muscle but also the digestive tract and internal organs, ultimately leading to death.
The future did not look good for Muscat: “He had not responded to usual immune suppressive treatment,” says Dr. Pope.
By late 2015, Muscat was growing desperate. He had heard that Dr. Richard Burt at Northwestern University in Chicago was offering a treatment using a patient’s own bone marrow stem cells to rebuild their immune system and shut down scleroderma. Muscat reached out to the Canadian Stem Cell Foundation for guidance.
“I investigated costs of Northwestern University treatment,” says Muscat, “and it was somewhere between $300,000 and $350,000. I thought about selling my business or my home. If I had to, I would have done that. Financially, it would have been a huge burden.”
Because the American treatment is similar to the combination chemotherapy/ bone marrow stem cell transplant treatment that The Ottawa Hospital’s Dr. Harry Atkins has used successfully against extreme forms of multiple sclerosis (MS, which is also an autoimmune disorder), the Foundation suggested Muscat reach out to him. Earlier this year Dr. Atkins agreed to take Muscat on as his first scleroderma patient.
“He fit the profile of the kind of patient best treated with these kinds of stem cell transplants” says Dr. Atkins, who is also an associate professor at the University of Ottawa. “There was a randomized trial carried out in Europe that was very well done and had very good results. I know the doctors involved and we’d talked a little bit about it, but their methods had also been published and are available for everybody. That’s why we publish — to spread the knowledge.”
By the time Muscat arrived in Ottawa in May, the disease had taken its toll. Once an imposing figure who worked out regularly and thought nothing of going for five- or six- miles runs, Muscat had watched 45 pounds fade from his six-foot frame. His brisk walk had turned into a painful shuffle. His boundless energy (he built a log home by himself, is an avid fisherman and collects classic sports cars) disappeared, making it difficult to get through a day. His fingers became like stone claws, curving in at the knuckles. His skin was so impenetrable he worried the Ottawa medical team might not be able to run an intravenous line. And the pain was excruciating.
“On a scale of 1 to 10, about 15,” Muscat says.
Muscat began the therapy in June and spent much of last summer undergoing the treatment designed to destroy the diseased immune system and rebuild it with his own purified stem cells, ideally to produce a new, scleroderma-free one. Though not as harsh as the chemotherapy MS patients undergo, it is not a treatment to be taken lightly. The risk did not dissuade Muscat: “If the treatment didn’t kill me, the disease would.”
He made it through chemo with few noticeable side-effects beyond losing his hair and tolerating a couple of infections. Released from hospital in August, he embraced physiotherapy, doing three to five hours daily to get his flexibility back and rid his body of the collagen buildup.
He is now back in St. Thomas, occasionally working at the store — he has to limit his time in public places because the chemo has left him vulnerable to infections. “My pain is one or two percent compared to what it was before.” His range of motion with his arms and legs is much improved and he can get around on foot again.
He realizes it could take a year before the chemo drugs fade from his system and the full benefits of the treatment kick in. Muscat, grateful for the excellent care provided by The Ottawa Hospital’s bone marrow transplant team, is unswerving in his belief that he can beat this disease. “I feel physically and mentally better. I just don’t feel that I’m being attacked.”
In an email message, rheumatologist Dr. Pope said that while Muscat “has a long road ahead, we expect more recovery with softening of his skin and improved function. His pain is less and he feels that shortly after the transplant a ‘switch’ was turned back to how it should be and he developed a better sense of well-being. I will follow him carefully and I hope for more improvement over the next year or two. He is in physiotherapy and is getting ongoing intravenous drugs for safety as his immune system continues to reconstitute. I am very hopeful that Dan will be even better over time. This is not a cure, but has given Dan a better chance of recovery.”
In Ottawa, Dr. Atkins also urges caution. “It’s going to take months and months to know if this is a real improvement. The changes with scleroderma don’t happen overnight. This is not a curative treatment; it doesn’t make scleroderma go away and never come back. It’s something that helps a population of scleroderma patients: some patients improve, some not. There are patients that progress or relapse again.”
Muscat is positive about the future: “I still have the remnants of the disease, but I can jump in and out of my truck again and I can walk a couple of kilometres with no problems. I feel very optimistic, like I’ve been given a second chance.”