Last fall we told the story of Dan Muscat, an Ontario jeweler whose combination chemo/stem cell transplant treatment helped him recover from scleroderma, an extremely painful, life-threatening autoimmune disease that hardens the skin and attacks internal organs.…
Last fall we told the story of Dan Muscat, an Ontario jeweler whose combination chemo/stem cell transplant treatment helped him recover from scleroderma, an extremely painful, life-threatening autoimmune disease that hardens the skin and attacks internal organs.
We believed then that his transplant, which took place at The Ottawa Hospital over the spring and summer of 2016, was the first time such a therapy had been tried in Canada. It even made news: CTV’s Avis Favaro profiled Dan early this year.
It turns out that other Canadian hospitals are trying — and have been using — the innovative therapy, which involves first extracting bone marrow stem cells from a patient to purify them, then wiping out their diseased immune system with chemotherapy, and finally returning the robust stem cells to the patient. The goal is to have these fortified stem cells rebuild a disease-free immune system.
Calgary’s Dr. Jan Storek has employed the chemo/stem cell treatment on “four or five” patients since 2011 and has contributed to the international Scleroderma: Cyclophosphamide Or Transplantation (SCOT) study, the results of which have yet to be published. He began working with the treatment in the 1990s at the Fred Hutchinson Cancer Center in Seattle.
“I was part of the development of transplants for autoimmune diseases,” says Dr. Storek. “Then the University of Calgary hired me to start a research program in bone marrow transplantation including transplantation for autoimmune diseases.”
He points to the work of Dr. Sharon LeClercq, a Calgary rheumatologist and expert in systemic sclerosis, without whose involvement there would have been no Canadian participation in a randomized study. “Patients participating in studies, particularly in the three randomized studies leading to this success should also be greatly acknowledged,” says Dr. Storek.
One of his transplant recipients is Miaya Killips, pictured above shortly after her 2016 transplant and as she is today. Miaya, who lives in Spruce Grove, Alberta, was diagnosed with scleroderma three years ago. She suffered lung damage, along with hardening of the skin. “I had limited mobility because my joints were tight and I was not able to swallow well — I would choke on food.”
These days, things are much better. “Scleroderma-wise, I’m feeling great. My mobility is much better and I don’t have the pain I had before. I am not choking when I eat and my lungs have stabilized, which is good because before the transplant my doctor had me on a standby list for a lung transplant.”
An electrician by trade, she wants to go back to school as part of a career change. And she and her husband plan to start a family soon, using embryos harvested through in vitro fertilization before she underwent chemotherapy.
We also heard from Shane Knihnitski, a 28-year-old heavy equipment mechanic who underwent a bone marrow stem cell transplant at Saskatoon’s Royal University Hospital in February to treat his scleroderma, which had caused large calcium deposits to form at his joints, resulting in considerable pain and restricted mobility.
“Things are turning around,” Shane says, “and the skin is starting to loosen up. I wasn’t able to see my elbow for two years — it was a big lump like a soft ball — but I can see the bone again.”
Dr. Keltie Anderson, Shane’s rheumatologist, says that while “it’s still very early” Shane has regained “a fairly significant amount of mobility in his hands already.
“When I first started seeing him, he could sort of cup his hands but couldn’t make a fist. Now he can bring the fingers all the way to the palm — almost make a full fist. To have such change already is very impressive.”
That the stem cell transplant procedure is having good results comes as great news to rheumatologists like Dr. Anderson who, until now, had few weapons with which to fight this painful, life-stealing disease. “Basically, you would do cyclophosphamide (a chemotherapy medication to suppress the immune system) and then cross your fingers.
“In Shane’s case he not only has extensive skin involvement, he also had extensive lung involvement. His outlook was quite bleak. And he’s a young guy and (he and his wife) just had their first child.”
Dr. Mohamed Elemary, who directs the hospital’s stem cell transplant program, says Shane was originally referred to Dr. Storek for inclusion in the Calgary study but it had already been completed. “So we started to review the data and see if it was something feasible for him here in Saskatoon. The stem cell transplant unit is run by the cancer centre and by the health region with the University Hospital. We can barely accommodate our patients with malignancies.”
After receiving permission to try the treatment with Shane, making sure he was a good candidate for the procedure, and consulting with Dr. Storek, Dr. Elemary went ahead with the transplant two months ago. “Our concerns vanished because he did tremendously well and was out of the hospital almost two weeks after his transplant. I just saw him a couple of weeks ago and I was amazed at the way that he is responding.”
The treatment does not come without risks. In Shane’s case, he was told there was a 20% chance the treatment could kill him. “But he came through it with flying colours,” says Dr. Anderson. “The last time I saw him he looked great. He didn’t look like someone who’d just gone through ablative chemotherapy with a stem cell transplant. And he was more upbeat than I’d seen him in a long time.”
Dr. Elemary is hoping to get approval to treat another scleroderma patient with stem cells and “with the success of Shane’s story” is optimistic that will happen.
In May, Calgary’s Dr. Storek, with co-authors Drs. LeClercq and Andrew Daly, will publish a report in the Canadian Medical Association Journal, reviewing the challenges of integrating the treatment in Canadian hospitals, given that stem cell transplantation programs are set up to treat patients with malignant cancers. Dr, Storek also
Dan Muscat, whose recovery continues, is delighted that more scleroderma patients are getting the treatment. “I’m trying to get the word out. This should be an option for people when they are diagnosed.”
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.…
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.”
“It’s hard to put into words … to describe what it’s like to get your life given back to you in ways you never thought possible.”
Readers of this blog will be familiar with the story of Tina Ceroni, the Burlington, Ontario woman whose devastating Stiff Person Syndrome disease was successfully treated with a stem cell transplant by Dr.…
“It’s hard to put into words … to describe what it’s like to get your life given back to you in ways you never thought possible.”
Readers of this blog will be familiar with the story of Tina Ceroni, the Burlington, Ontario woman whose devastating Stiff Person Syndrome disease was successfully treated with a stem cell transplant by Dr. Harry Atkins at the Ottawa Hospital. Over the weekend CBC Ottawa brought the patient and the doctor together to talk about how the procedure gave her her life back after the rare autoimmune disorder had taken most of it away. You can see it here.