N.B. woman with rare autoimmune disease undergoes high-risk treatment in Ottawa amid pandemic

While many Canadians are wondering when they're going to get their COVID-19 vaccine, a New Brunswick woman will soon have every vaccine she has ever received wiped out of her system.

Shelley Clark-Collins, 56, of Saint John, is in Ottawa, where she will undergo a combination of intense chemotherapy and a blood stem cell transplant.

It's an innovative, aggressive and risky procedure aimed at resetting her immune system.

Tomorrow, a doctor at the Ottawa Hospital will begin the months-long process to remove stem cells from her bone marrow, use high doses of chemo to destroy her diseased immune system, then purify and reinject those stem cells.

Clark-Collins suffers from a rare autoimmune disease called dermatomyositis (dur-muh-toe-my-uh-SIGH-tis).

Her immune system, which is supposed to fight off invading organisms like bacteria and viruses, mistakenly attacks her healthy cells. The dermatomyositis causes inflammatory, painful and degenerative changes to her skin and muscles.

Best hope, but no guarantees

Fewer than 10 in a million people have the disease, according to an estimate from the U.S.-based National Organization for Rare Disorders.

Clark-Collins, who also has multiple sclerosis, says the stem cell transplant will push her "pretty much [to] the brink of death." She will be in an extremely weakened and vulnerable state, all in the midst of a pandemic.

There is no guarantee of success and she could die. But the mother of two says the treatment is also her best hope of reclaiming her life.

"I'm excited, very excited," she says, fighting back tears.

Mike Doyle, her "better half" of 16 years, agrees.

"I look at the possibilities," he says. "Even if she can sustain the way she is now, is great. If [the disease] gets worse, I know it's going to be more debilitating for her."

Doyle says he's most worried about COVID-19.

"The COVID could take her down pretty fast." 

Her son Nathan Collins, 30, and daughter Meaghan Russell, 37, are a bit apprehensive but also keen, says Clark-Collins.

"They've watched me decline. It's been hard on them to watch me like that."

Walk to car now 'a feat' for former runner

Clark-Collins used to be active. She ran in Saint John's Marathon by the Sea and helped organize the event for years.

"I kayaked, I rock climbed, I skied. I did everything outside, loved being outside. Loved going for walks."

Now, just to walk to the car is "a big feat." 

She sleeps in a chair because it's too hard to get her swollen body in and out of bed. On bad days, she depends on Doyle to help her get out of the bathtub and dressed. And they recently moved into an apartment because she couldn't handle the stairs in their house anymore.

She has difficulty swallowing and talking and has suffered irreparable damage to her heart and lung muscles.

But she continues to work as a busy hairdresser with hundreds of clients, and most people have no idea she's sick, says Doyle.

"I see her going through the pain every day. She goes to work and nobody knows that she's sick.

"And I'm thinking, why don't you tell them? … And she [says] 'Oh no, they don't need to know."

Hopes to raise awareness, help others

Although a private person, Clark-Collins says she decided to share her story to raise awareness.

As it is, every time she goes to the Saint John Regional Hospital, she has to spell out dermatomyositis and the doctors have to Google it.

And when she started to advise her clients she was going to be away for months because of the stem cell transplant, a few seemed to be under the impression it was a holiday spa treatment.

"I just thought maybe this might help other people," says Clark-Collins.

She has heard of two boys in the Saint John area who have been diagnosed with dermatomyositis. It's not a reportable disease so the Department of Health is unable to provide any provincial statistics.

Maybe someone else diagnosed with the disease can get the proper help, she says. She also hopes her experience will encourage others who are sick to continue to search for answers.

"You've got to be your own advocate. I have learned that. You really do. You have to learn to stick up and say, 'There's something wrong here. It's my body, I know there's something wrong.'"

What is dermatomyositis?

Dermatomyositis is one of a group of rare muscle diseases called inflammatory myopathies.

It typically starts with a reddish-purple rash, which can be itchy and painful. This may appear on the eyelids, cheeks, nose, chest, back, elbows, knees and knuckles.

Muscles usually become progressively weak and sore, making it difficult to perform everyday movements, such as lifting an object or rising from a chair. Over time, there can be muscle loss.

Dermatomyositis can also cause breathing problems, cardiovascular disease, connective tissue diseases, such as lupus, and may increase the risk of developing cancer.

It usually affects people in their 40s to 60s or children between the ages of five and 15. Females are affected twice as often as males.

The cause is unknown but experts believe genetic and environmental factors, such as infections, sun exposure and certain medications, may play a role.

Doctor is a pioneer

Most blood stem cell transplants are used to treat cancers of the bone marrow, such as leukemia and lymphoma.

Only a couple of thousand have been performed in the world for autoimmune diseases, says Dr. Harold Atkins, the hematologist at the Ottawa Hospital who will perform the procedure for Clark-Collins.

He declined to discuss how unique the treatment is for dermatomyositis or any details about Clark-Collins's case.

But another one of her specialists, Dr. Angela Genge, executive director of the clinical research unit at the Montreal Neurological Institute, says "it's very new."

Atkins, who is also a medical director and scientist at the Ottawa Hospital Research Institute, and an associate professor at the University of Ottawa, is a pioneer in the field.

In 2000, he and neurologist Dr. Mark Freedman conducted a trial with 24 multiple sclerosis patients who had severe symptoms and hadn't improved using drug therapy. Their 13-year study suggested the high-risk therapy may stop MS from progressing.

The Ottawa Hospital has performed "a small number of these transplants in patients with severe autoimmune diseases who have not responded to conventional treatments," according to its website. In addition to MS, these have included myasthenia gravis, stiff person syndrome and scleroderma.

How the transplant is done

Autoimmune diseases cause damage to the body through the immune system, so strong chemotherapy is used to destroy the diseased immune system, says Atkins. The chemo, however, also kills the bone marrow, the spongy tissue inside large bones, which produces blood stem cells.

Without stem cells, the body can't make the blood cells needed for the immune system to function.

So a patient's stem cells must be harvested first, which takes about two weeks.

The patient is given chemotherapy followed by a medication that drives their blood stem cells from their bone marrow into their blood so they can be collected and frozen.

After subsequent heavy rounds of chemo eliminate circulating immune cells, the collected stem cells are thawed and returned to the body.

"The new immune system grows back and does not cause further autoimmune disease in most patients," says Atkins.

The patient is usually in hospital for at least six weeks.

There are many risks because of the chemotherapy, Atkins says.

"Fever and infections are common. There is a need for blood and platelet transfusions. There is a small chance of organ damage and failure, sepsis, and the risk of dying from one of these complications."

Running out of options

Clark-Collins admits she's "very scared of the unknown."

"There's the odd time I'll start to think about it and I'll go, 'Oof, do I really want to do this?' I had that panic attack the other day."

She worries about the procedure not working, that she'll end up with a fatal complication. 

"And with COVID [restrictions], I will be alone," she says, breaking down. "That is my biggest fear."

Clark-Collins believes the potential benefits outweigh the risks though.

She's also running out of options.

She has developed a resistance to several drugs, can't continue taking large doses of steroids for much longer and is nervous about the addictiveness of her opioid painkiller.

Right now, she goes to the hospital once a week for plasmapheresis, where the liquid part of the blood, or plasma, is separated from the blood cells, removed and replaced with new plasma. "Just to keep me comfortable," she says.

But that treatment can't work forever, "because all of a sudden something could happen and you could get sick again and you go downhill again and there's nothing here to help you."

Sent to psychiatrist

Clark-Collins says a long road has led her to this opportunity.

She started having problems around 2005. She struggled at work to hold up a blow dryer or to stand for long periods. 

When she ran, she would fall down and she lost the feeling in her legs. She also developed a rash on her face.

Around 2007-08, a neurologist found a lesion on her brain and diagnosed her with MS. "But what he was treating me with just wasn't working." 

Doctors started to diagnose her "with everything but the kitchen sink," including cancer, a rare inflammatory arthritis, and Grave's disease, an immune system disorder.

At some points I thought, 'Geez, maybe I am crazy. Maybe I'm not sick and it's all in my head.' I really did start to think that.- Shelley Clark-Collins

Meanwhile, she was falling "all the time," couldn't get out of the bathtub, couldn't roll over in bed or lift the sheets.

In 2009, she went to a dermatologist who told her, "'You may have this rare disease called dermatomyositis, but nobody really knows much about it.'"

Then he told her, "'I really think you should go see a psychiatrist, because I really feel you have empty nest syndrome,'" because her children had moved out. 

Clark-Collins laughs about it now, but says thinking about it makes her want to cry.

"At some points I thought, 'Geez, maybe I am crazy. Maybe I'm not sick and it's all in my head.'"

But then a psychiatrist told her, 'No, there's something more.'"

In 2011 she went to Fredericton rheumatologist Dr. Jamie Henderson, who researched and ordered tests for other diseases.

Eventually, one medication "seemed to settle everything down," Clark-Collins says.

But by 2013, she could barely walk and "was shaking really bad."

Henderson told her about Dr. Angela Genge after he attended a conference in Chicago.

Through blood work and muscle biopsies, "she diagnosed it within 20 minutes," Clark-Collins says.

Blood clots, stroke and sepsis

Genge says for her, it was "very straightforward." The condition has clear features, and Clark-Collins had them.

"However, it is a rare disease … so it really requires someone having some experience in rare disease, particularly rare neuromuscular disease, to make the diagnosis," Genge says.

Clark-Collins recalls the drive back to Saint John. "I was the happiest I had been because I thought, 'OK, this is finally over. I can finally start to get on with my life.'" 

She started an intense new treatment regime and within about two months, she walked a 5K race in Fredericton. "I thought, 'Oh my gosh, this is amazing.'"

Two days later, she had a blot clot, and Saint John doctors stopped her treatment.

"They just stopped everything and let me sort of cold turkey and everything ramped up again."

Genge got her back on the treatments. About five months later, Clark-Collins "had this really bad pain" in her chest and drove herself to the emergency department. It was another blot clot in her lung.

"I think I've had nine so far." 

In 2015, she had a stroke. A couple of years ago, she had a sepsis infection. 

Genge referred her to a rheumatologist in Montreal, who has a research interest in blood stem cell transplants. She referred Clark-Collins to the program at the Ottawa Hospital.

Could put her in remission

"I started to read about it and I was like, 'OK, I'm up for it. I'll be a guinea pig,'" Clark-Collins says with a laugh.

Genge thinks it's "brilliant" she's getting the stem cell transplant. 

"If all goes well, my hope is that it puts her in remission."

If the procedure is successful, Clark-Collins should know within months, she says.

Clark-Collins is "hopeful." She dreams of being able to hug her children without excruciating pain, regaining her independence and even running again.

"Just maybe get a little bit of my life back."