Sickle cell disease: Researchers and community advocates winning Senate battle for transformative health-care policy

By University of Ottawa

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From left to right: Smita Pakhale, Jude Mary Cénat, The Honourable Marie-Françoise Mégie, Senator, Biba Tinga and Ewurabena Simpson
From left to right: Smita Pakhalé, Jude Mary Cénat, The Honourable Marie-Françoise Mégie, Senator, Biba Tinga and Ewurabena Simpson
“As a Black woman with sickle cell disease, I brace myself for judgement every time I walk into the ER,” says Shelly-Ann Crosby, 41, whose countless hospital visits for pain have deepened her wariness.

“I vividly recall visiting a Toronto hospital where a young nurse eyed my scarred arms from years of IVs and blood draws and snapped, ‘Why are you accessing your own veins?’ Her words stung, but they weren’t the first.

“Being Black with sickle cell means we must always be on our best behaviour. We stick to one hospital, even if it means driving an hour on a weekday, not only to ensure our provider understands the condition but to avoid feeding an already palpable ‘drug-seeking’ stigma.”

For caregivers, it’s not much easier. One mother whose adult son has sickle cell disease says, “The hospital has become our second home. His condition limits our ability to plan our work schedule, our vacations and enjoy a certain quality of life. Many of us changed careers just to live near health-care centres familiar with the disease.”

Sickle cell disease (or SCD) is a genetic blood disorder that can reduce life expectancy by more than 30 years. It’s caused by crescent-shaped red blood cells that block blood flow, leading to strokes, lung disease and damage to organs, including the brain, kidneys, bones and more. Many SCD patients experience episodes of acute pain, known as pain crises, along with extreme fatigue, swelling in the hands and feet, frequent infections and delayed growth or puberty.

Despite its global prevalence, affecting over 500,000 babies annually — most commonly among African and Caribbean populations, and, to a slightly lesser extent, in the Middle East, Southeast Asia and parts of South America — SCD has been largely overlooked by the Canadian health-care system.

Bill S-280: A prescription for more equitable health care

The national framework on sickle cell disease, known as Bill S-280, is a groundbreaking legislative effort to transform care and support for SCD. Spearheaded by a coalition of community advocates and University of Ottawa researchers, the bill offers a comprehensive response to the challenges associated with the condition. It was introduced in the Senate on November 7, 2023, by the Honourable Marie-Françoise Mégie.

If enacted, Bill S-280 will:

  • Enhance the training and tools available to health-care professionals for more effective diagnosis and treatment
  • Establish a national research network and registry, driving advanced research and improving data collection to better understand SCD
  • Implement evidence-based national standards for diagnosis and treatment, ensuring consistent, high-quality care across Canada
  • Guarantee nationwide access to newborn screening and timely diagnosis, so that every child born with SCD gets the earliest possible intervention
  • Support public awareness campaigns to educate about the disease and reduce stigma
  • Explore financial support options, including a tax credit for affected individuals and their caregivers

Grassroots advocacy and Bill S-280

Soon after uOttawa’s Interdisciplinary Centre for Black Health (ICBH) was launched in October 2021, its director, Jude Mary Cénat, received an email from Biba Tinga, president of the Sickle Cell Disease Association of Canada (SCDAC), with an important question: “How come a research centre on Black health doesn’t mention sickle cell disease on its website?”

Her inquiry quickly turned into a collaboration with Dr. Cénat, uncovering and documenting critical gaps in research and care across Canada. By June 2022, they co-hosted the first awareness event.

Senator Mégie’s involvement soon followed, leading to the first Senate breakfast focused on SCD. This pivotal moment culminated in the introduction of Bill S-280, which passed second reading in June 2024.

On June 19, 2024, World Sickle Cell Day, Cénat and Tinga were awarded King Charles III’s Coronation Medal by Senator Mégie.

“Bill S-280 is a landmark effort in Canadian health care, addressing the decades-long neglect of one of the world’s most prevalent genetic disorders,” says Cénat. “By establishing national standards, the bill could serve as a blueprint for addressing other overlooked medical conditions.”

An artificial blood shortage

The progress of Bill S-280 has also inspired a coalition focused on overcoming barriers to blood donation in Black communities across Canada. Blood transfusions can be a matter of life and death for people with SCD.

“It takes more than matching the usual A, B and O blood types to ensure ideal compatibility in transfusions,” says Cénat. “Matching ethnicity is an important factor that helps align blood antigens, reducing the risk of complications from frequent transfusions.”

However, there’s a critical shortage of blood donations from individuals of African and Caribbean descent across Canada. Cénat says that this shortage is largely due to a national policy that permanently excludes donors who have ever contracted malaria.

According to Canadian Blood Services,

  • (…) whole blood or platelets cannot be donated. The parasites that cause malaria can lie dormant for decades. This means that no matter how much time has passed, there remains a small chance that someone who has had a malaria infection at some point in their lives may still carry malaria parasites in their blood.

“This policy is outdated, debunked by modern science and medical testing,” says Cénat. “It perpetuates unnecessary hardship and endangers patients.”

Having contracted malaria multiple times in his youth, the Haitian-born professor says he was still able to donate blood in countries like France and the U.S., where laws allow donation after specific time windows. He also cites Germany’s less restrictive approach, which only requires donors to produce a negative test.

“Indefinitely excluding healthy, potentially life-saving donors for a condition that has long left the body reflects outdated medical thinking at best and systemic bias at worst,” says Cénat.

Tinga adds that blood donation centres are often located far from Black communities, hard to reach by public transportation and open limited hours, rarely extending to weekends. “It’s clear that inclusivity is not a priority in our blood donation system,” she says.

Current state of care and the promise of a national network

Over 6,500 Canadians with sickle cell disease (SCD) contend with inconsistent care and limited treatment options — though for many experts, this figure is an underestimation.

Dr. Ewurabena Simpson, a hematologist at CHEO and professor at uOttawa, says, “While the U.S. and parts of Europe have made strides in SCD care, Canada lags behind. New therapies are often stalled by lengthy approval processes and a shortage of specialists.”

Despite successful trials, new drugs are still out of reach in Canada due to cumbersome approval hurdles and companies’ reluctance to invest in a so-called “smaller market”. Even evidence-based treatments have not been approved for SCD in Canada.

“Take hydroxyurea, for example. This is an older drug originally used to treat leukemia, but it has since shown benefits for SCD as well. To this day, it is still used off-label in Canada because of the administrative burden and the lack of financial incentive for pharmaceutical companies to pursue approval of generic medications,” Dr. Simpson says.

“We need to address what’s stalling innovation,” she continues, adding that incentives for pharmaceutical initiatives must also be tied to a commitment from the pharmaceutical industry to follow through on the process. “I find it unethical to involve vulnerable populations in clinical trials within Canada and then not bring these medications to the Canadian market.”

A key component of Bill S-280 is a national registry aimed at centralizing data and linking researchers across Canada.

The Canadian SCD Registry was launched in partnership with the Sickle Cell Disease Association of Canada. Dr. Smita Pakhalé, who co-leads the initiative from the Ottawa Hospital and her lab at uOttawa, explains, “The registry will provide a substantial amount of data to develop better treatment protocols and ensure that patients’ needs are identified more efficiently, especially in the emergency room.”

Currently, SCD data collection is fragmented and incomplete. By bringing researchers from all over the country together, the registry will help them recognize trends and address underreporting, ultimately refining treatment approaches and standardizing care.

“It will also offer insights into effective models, such as transitioning from pediatric to adult care, where patients often fall through the cracks,” says Pakhalé. “The goal is to reach consistent quality of care throughout the patient’s life.”

A strain on lives and livelihoods

Sickle cell disease takes a heavy toll on quality of life, disrupting education and work opportunities and often leading to career stagnation and financial struggle. It limits physical tasks, hindering job performance.

With little awareness and no recognition in the Canadian Labour Code, employers often make arbitrary decisions about what it means to work with SCD and what rights workers should have.

Furthermore, the financial burden on families is significant, not just in direct costs but also from lost earning potential. Caregivers often give up career growth to support loved ones.

“A friend of mine estimated her income loss at $45,000 a year, just from missed hours caring for her sick child,” says Tinga, who stresses the need to recognize SCD as a disability, as proposed in Bill S-280. “Acknowledging this would ease the financial burden and lead to better support systems for people with SCD and their families.”

Silent struggles of the heart and mind

Amidst financial and physical hardships, the emotional weight of SCD often goes overlooked. As a mother of a man with SCD, Tinga sees a “troubling pattern of singlehood” among affected men. “The physical limitations and societal stigma erode their self-esteem and ability to initiate or maintain romantic pursuits,” she says.

The resulting mental health challenges, including anxiety and depression, are commonly neglected. As Tinga’s son, now 36, told her: “When I go to the doctor, he examines my bloodwork, writes me prescriptions, but never asks how I’m doing mentally, whether I’m happy at my job, in a relationship, or if I want kids.”

Crosby echoes this sentiment: “I believe every person with SCD needs therapy! Growing up, my siblings would call me lazy. The truth was, I just didn’t have their energy, so I always felt like I couldn’t measure up. The physical pain of sickle cell is tough, but the mental one is no joke.”

Senator Mégie stressed the need for such support in her speech before the Senate: “Repeated hospitalizations and difficulty holding down steady employment take a heavy toll on patients’ self-esteem. Parents are forced to stand by, powerless, as their child experiences angry outbursts and sadness that can morph into depression.”

The right to life and the right to give life

Hydroxyurea, the drug widely used without official approval in Canada, has been linked to potential infertility issues, particularly in men. People with SCD already face reproductive challenges with lower sperm counts, and hydroxyurea is believed to exacerbate the problem.

Fertility preservation is a common practice for cancer patients undergoing chemotherapy. However, for SCD, hydroxyurea is often prescribed to patients as young as nine months old. Since fertility preservation measures are not feasible before puberty, this puts them at significant risk of sterility.

Tinga recalls asking a leading doctor about reproductive health considerations in SCD treatment. The response was that the focus was solely on immediate health and pain management.

Her son, who was prescribed hydroxyurea at the age of 18, has now paused his treatment to initiate fertility preservation, a process that he had to arrange independently using private insurance. “A patient-centred approach would have proactively addressed such a critical need, so that individuals don’t have to navigate these challenges on their own,” she says.