Now is the time to address the unmet needs of Canada’s sickle cell disease community

Fuelled by decades of discrimination and stigma, patients like Storma McDonald have banded together to call for significant improvements to the existing standard of care. Thanks in part to the support of clinicians like Dr. Smita Pakhale, tangible change is within reach.

Storma McDonald, photographed in her Vancouver home.

The Lower Mainland of Vancouver, which comprises Metro Vancouver and the Fraser Valley, was a different place in the 1970s. While now among the most ethnically diverse regions in Canada, in the ’70s, the Lower Mainland had just begun the slow cultural and demographic shift that would eventually transform the quaint region into the vibrant metropolitan area it is today.

Diagnosed with sickle cell disease (SCD) at seven years old, Storma McDonald came face to face with many of the challenges associated with these kinds of cultural shifts at an incredibly young age. “There weren’t many Black people in the area at that time, so the disease was fairly unknown,” she says. “There was so much discrimination because of that. It was hell.”

A struggle to be heard

In North America, SCD is most common in people of African descent. Due to Vancouver’s lack of diversity at the time, awareness of SCD was scant, if present at all.

Thus, due to insufficient understanding of the disease among the public and health-care professionals alike, young McDonald and her mother faced terrible stigma and a gruelling diagnostic journey. Following numerous visits to the ER, multiple misdiagnoses, and accusations of parental mistreatment, a medical intern finally suggested that McDonald be tested for SCD.

“The biggest problem was that most doctors didn’t understand what SCD was,” says McDonald. “Some would try to peg me as a drug-seeker — even as a young child. Many would say, ‘It’s all in your head, there’s nothing wrong with you.’ My mom was a single parent, struggling to raise me, and we didn’t have a lot of support. She couldn’t keep a job because she’d have to take so much time off work to care for me. It really was a disaster.”

Like Storma, many patients experience isolation and loneliness.

Coming of age with an invisible illness

McDonald’s challenges didn’t end with her diagnosis.

Unfortunately, her childhood was marked with heart-rending moments. “In elementary school, I was always sick and in and out of the hospital, mostly for pain,” she recalls. “I missed a lot of class and had mountains of homework to catch up on. And it’s really hard to make friends when you miss so much school.”

Given that SCD often presents as episodes of fatigue and pain followed by periods of remission, middle school and high school were more of the same. McDonald finally experienced a brief reprieve during her late high school years. “It was nice,” she says with an audible calm. “I almost had a normal life for a few years there.”

Remission continued until college, and even though McDonald was still dealing with a set of other health challenges, she was finally able to focus on building a life in the absence of much of the pain that her disease brings with it. She studied psychology via distance education and at-home learning and had planned to become a trauma and suicide prevention counsellor.

“Then when I hit my late 20s, my health started giving me problems again,” she adds.

A devastating, multi-system disease

“SCD is an inherited blood disorder that affects the shape of red blood cells,” says Dr. Smita Pakhale, staff respirologist in the Division of Respiratory Medicine at the University of Ottawa. “Usually, these cells are roundish, but for people like Storma, they have a sickle shape and cannot flow smoothly. They stick together, blocking vessels and causing serious problems in all systems of the body, including the lungs, shoulders, and hips.”

SCD is often insidious, which is especially dangerous given the lack of understanding of the disease that still exists in many areas to this day. “Some symptoms happen chronically,” explains Pakhale. “A lot of patients have organ damage because blood flow is hampered slowly over time. They won’t look sick but, if you ask them, they’ll say that they feel very tired all the time.”

Alternatively, many living with SCD endure crises that land them in the emergency room. “When someone is having a crisis, circulation to certain organs is being blocked,” says Pakhale. “It’s a multi-system disease. Patients will come in with severe pain in one or more regions of their body and, if not taken seriously and treated swiftly, these crises can be fatal.”

Dr. Smita Pakhale

Facing near-endless limitations

Decades have passed since her diagnosis, but SCD continues to shape McDonald’s life. “Employment is one of the biggest issues,” she says. In 2012, McDonald co-founded the Sickle Cell Association of British Columbia (SCBC), and has been able to create a rewarding career for herself while working from the comfort of her own home.

Others aren’t always so fortunate. The disease places limitations on all areas of life, from work to travel to social lives and relationships. “Isolation is a major issue,” says McDonald. “Maintaining romantic relationships and friendships is a challenge. Those of us with SCD often have to change plans and build every aspect of our lives around treating or fending off our disease.”

In the absence of curative options, the most effective forms of treatment for most patients include hydroxyurea, red blood cell exchange, bone marrow transplant (less than 10 per cent of patients are eligible), and regular chelation therapy to ward off iron overload from frequent blood transfusions.

As for McDonald — who rarely receives transfusions herself — she’s extremely careful to avoid pain attack triggers like dehydration and sudden changes of temperature or high altitudes. A passionate traveller, she looks back fondly to a trip to Sicily’s beautiful, low-lying coastal towns. Unfortunately, she concedes that there are many parts of the world (like Peru’s Machu Picchu) that she’d love to visit one day, but likely won’t be able to.

Storma is grateful for the ability to work from home.

The incredible power of compassion

Although her disease has impacted her life deeply, McDonald refuses to let it define the person, advocate, and community leader that she has become. “Finding communities where we can share our stories is vital to our growth and our sense of hope,” says McDonald. This is especially the case when it comes to a disease as misunderstood and racially segmented as hers.

We also must do better as a society to support patients like McDonald. It can start with something as simple as regular blood donation and increased awareness. “When you’re in pain, all you want is some compassion and understanding,” says McDonald. “If you have cancer, people are compassionate and understanding. But for us, there’s less love, compassion, and understanding, and so much disdain. This kind of bias and neglect can be lethal.”

"If we were doing right for these patients, we would have a well-supported National Registry for Sickle Cell Disease and well-funded research programs,” says Pakhale. “We’d have more tools, clinical guidelines, and medications so that we could effectively treat patients, prevent complications, and improve their well-being and longevity.”

For Storma, home is a sanctuary and place of calm.

“Please listen to us”

McDonald echoes Pakhale’s frustration, her voice animated despite her peaceful and introspective demeanour. “There are so many things that can be done,” she says.

Besides the recommendations provided by Pakhale, McDonald points to the dire need to create emergency room protocols that speed up the patient intake process, to make sure that SCD patients are treated immediately. “The faster we can be treated in the ER, the shorter our hospital stay will be,” she adds. “This would put so much less pressure on our health-care system.” Also vital are an increase in education for health-care practitioners, and, above all, the generation of a tectonic shift in the public's understanding of how severe and disabling this invisible illness is.

Despite improvements since the ’70s in the way the medical community understands SCD, we as the Canadian public have a significant way to go. While patients like McDonald continue to advocate for themselves and for each other, we all have a role to play in advancing the way that all patients are cared for.

For the past decade, we at the Sickle Cell Disease Association of Canada (SCDAC) have been advocating to raise awareness about sickle cell disease (SCD) in Canada and to enhance diagnosis and treatment options.

Globally, most people living with SCD are from systematically disadvantaged populations, in rich and poor countries alike. Join us as we raise our voices to bring attention to the challenges and needs of this equity-deserving group. We urgently need more research, better treatment options, and comprehensive clinical care.

The first-of-its-kind Canadian Sickle Cell Disease Registry (CSCDR) received full institutional ethics approval on April 7, 2022, at The Ottawa Hospital with Dr. Smita Pakhale as the nominated principal investigator. This registry will be useful to both clinicians and researchers in better understanding SCD and improving the care of individuals living with SCD.

We invite the SCD community and public and private partners to join us and support this important project.

To connect, learn more, and support our mission, click here.

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A community-based initiative supported by Chiesi Global Rare Diseases.