Hon. Marie-Françoise Mégie: Honourable senators, I have the honour to table a petition from the residents of Alberta and Ontario expressing their support of Bill S-280, An Act respecting a national framework on sickle cell disease.

Hon. Marie-Françoise Mégie moved second reading of Bill S-280, An Act respecting a national framework on sickle cell disease.

She said: Honourable senators, I rise today to speak to Bill S-280, An Act respecting a national framework on sickle cell disease.

This has already been discussed in Parliament. In 2011, in the other place, MP Kirsty Duncan tabled Bill C-221, meant to implement a comprehensive national strategy for sickle cell disease and thalassemic disorders.

Unfortunately, that bill never made it past first reading. Building on MP Duncan’s commitment, our colleague Senator Cordy introduced Bill S-211 in this chamber, designating June 19 as National Sickle Cell Awareness Day. That bill received Royal Assent in December 2017.

Thank you, Senator Cordy.

[English]

This disease has several names.

[Translation]

In French, it is known as “drépanocytose,” from the Greek word drepanon, meaning “sickle” or “crescent.” In English, the name used is “sickle cell disease” or “sickle cell anemia.” All these diverse terms are commonly used, but for the purposes of my speech, I will use the term “sickle cell disease.”

[English]

What exactly is this disease?

[Translation]

To help you understand it, allow me to make a brief foray into the world of medicine. Don’t worry, I’ll make sure that my remarks don’t wear you down too much at this late hour.

This disease has been around since time immemorial. It was described for the first time in medical literature in 1910 by American doctor James Herrick, and its genetic basis was established in 1949 by James Neel.

[English]

It is: enetic, rare, chronic and multisystemic. It affects the quality of life, and it decreases life expectancy. It’s a death sentence.

[Translation]

It is a hereditary disease. It can’t be caught like a cold. It is passed down by the parents when the child inherits genes from both parents. Roughly 5% of the world’s population carries the gene, also called a trait. In some parts of the world, that percentage rises to 25% or more.

With respect to prevalence, the disease affects roughly 6,000 Canadians. Dr. Yves Giguère, director of Quebec’s newborn screening program, says it is a rare disease, occurring in one in every 2,000 births in Quebec.

Sickle cell disease is prevalent among persons with ancestors from Africa, the Caribbean, the Middle East, Central and South America, some regions of India and the Mediterranean. According to a study published in 2023 by Jacob Pendergrast and his colleagues at the Toronto General Hospital Research Institute, “The estimated prevalence of patients with sickle cell disease in Ontario [between 2007 and] 2016/17 was 1 in 4200,” and affected patients’ need for hospital-based care is substantial.

This is a chronic and multisystemic disease: It is present at birth, it lasts a lifetime and it affects every organ in the body.

Sickle cell disease is a genetic disorder that affects hemoglobin, the protein in red blood cells that transports oxygen. Abnormal hemoglobin results in abnormally shaped red blood cells. Red blood cells are usually disc-shaped and flexible, but in people with sickle cell disease they become crescent- or sickle-shaped, thus the name of the disease. These sickle-shaped red blood cells are rigid and can block small blood vessels, a condition known as vaso-occlusion. Normal red blood cells can live up to 120 days, but sickle cells live only for about 20 days, which can cause severe anemia. Every organ in the body can be affected because they all require adequate blood flow. They are not getting the oxygen they need, which is what causes the various symptoms and complications that I am going to tell you about.

The most common clinical symptoms of sickle cell disease are vaso-occlusive crises, which can cause medium-intensity to intolerable chest, bone and joint pain that often requires frequent hospitalization. The person affected can also get infections that can lead to sepsis or death, if they are not treated immediately. That is all I will say about that.

One of the most common complications of sickle cell disease is stroke. One in ten sickle cell disease patients under the age of 20 have a stroke. They also suffer from pulmonary hypertension, which means that they need daily oxygen for the rest of their lives. Another complication is kidney failure, which means the patient will need dialysis and so on.

In terms of reducing life expectancy, the treatment of sickle cell disease has evolved over the years, and life expectancy has improved. In the 1970s, life expectancy was estimated at five to 10 years. These days, many patients who receive appropriate treatment can live into their sixties, which is still markedly shorter than the general population.

This is just an estimate because we don’t have the evidence.

Ismaël, a 35-year-old man who expects to live to about 50, said, “I have already lived half my life, if nothing changes.”

[English]

Why talk about sickle cell disease today? It’s unknown, underdiagnosed, lacks research funding and causes premature death.

[Translation]

According to the Sickle Cell Disease Association of Canada, this disease is the most common of all genetic diseases. Nonetheless, it remains relatively unknown to the public and even to health care professionals. Only the health care teams at specialized centres in Canada’s major cities have professionals who are familiar with the disease and can provide adequate care to patients. This lack of knowledge has many consequences, including the name of the disease. Some francophone families who only know the disease by the French name “drépanocytose” have had a hard time making themselves understood in English-speaking hospital environments.

Even when families use the correct terms, care providers do not always give them the attention they need, blaming everything on parental anxiety. Ignorance of the disease’s manifestations also leads to limited access to appropriate care.

As soon as their children develop a fever, parents are instructed to take them to hospital immediately, as they are at risk of developing life-threatening sepsis. However, it’s not easy to make this clear to the professionals who receive them in the emergency room. Excruciating chest, bone and joint pain cannot always be alleviated by regular painkillers, so the use of narcotics may be required. These adolescents are often labelled as “drug addicts” in the emergency room, and pain treatment is then delayed, with the risk of serious complications. For many of our suffering young patients, inadequate care and stigma is their lot in life.

Along with the physical symptoms, their mental wellness is considerably compromised. 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 emotional challenges lead patients like Mamadou to wonder why they are not normal and why they are always in bed, why their legs and arms hurt so much, why they spend 18 hours a day crying on and off, why they wake up every morning feeling like there is a cloud hanging over their heads and not knowing what is going to happen to them today or tomorrow.

Ismaël says, “It’s hard to plan long term because my life has an all-but-definite expiration date.”

Then, a parent speaking from his own experience testified about the devastating effects this disease can have on daily life and family well-being. He said the following:

The hospital has become our second home, which hinders our ability to plan our work schedule, our vacations, in short, to enjoy a certain quality of life.

Some families have to choose a different career path in order to live near centres where health care professionals know the disease.

I will now talk about the lack of research funding.

The Interdisciplinary Centre for Black Health in Ottawa is studying the mental health of patients and their families. Applications for research grants from hemato-oncologists and other specialists in the field keep being turned down by funding agencies. Although sickle cell disease was the first genetic disorder to be identified, advances in treatment have been slow to follow. This is largely due to a lack of research funding.

Many specialists compare sickle cell disease and its associated challenges to other genetic disorders, particularly cystic fibrosis. These two disease have some similarities. They are both rare, chronic, multisystemic disorders that reduce life expectancy. However, there are major differences between the two when it comes to the funding allocated for research, a registry and therapeutic advances.

The Cystic Fibrosis Canada website shows that scientists receive many research grants, some valued at up to $100,000 a year. However, the Sickle Cell Disease Association of Canada website shows that only two small grants are available: two individual grants in the amount of $20,000 per year for up to two years, and two additional grants in the amount of up to $5,000 each, also for two years.

When will a research chair be created for sickle cell disease in Canada?

This lack of knowledge about the disease also delayed the development of a diagnosis. The key to diagnosis is universal newborn screening involving a simple heel prick. The test is one of several screens administered to identify other metabolic and genetic diseases already part of the screening program.

Lillie Johnson, a nurse and founder of the Sickle Cell Association of Ontario, had to fight for universal newborn screening before it was introduced in her province in 2006. In November 2009, British Columbia followed suit, along with Nova Scotia in 2014. In November 2013, the screen was partially implemented in Quebec and later extended to include the entire province in 2016. The sheer determination of Wilson Sanon, president of Quebec’s sickle cell disease association, deserves credit for this accomplishment.

Later, several other provinces signed on. Yet, the disease easily meets the eligibility criteria for this diagnostic test. The test can detect the disease within 24 to 48 hours after birth. It is specific and sensitive to the medical condition targeted. Early screening allows care providers to intervene and create an effective treatment plan with the family. When this kind of response starts in the first few months of life, it helps reduce the frequency of hospitalization, prevents complications and improves the quality of life for these children and their families.

After this test was introduced, hematologist Dr. Yves Pastore and his team observed that the cohort of babies diagnosed with sickle cell disease had almost doubled, from 250 cases to 475, at Montreal’s Centre hospitalier universitaire Sainte-Justine between 2013 and June 2023. Despite the fact that over 100 years have passed since sickle cell disease was first identified, we’re still very far behind when it comes to treatments. We now know that healthy living and certain preventive measures, such as avoiding exposure to extreme temperatures and staying hydrated, can help stave off complications.

In terms of medications, hydroxyurea, a drug first used in the treatment of cancer, has been administered for over 15 years to treat sickle cell disease. It has proven helpful by reducing the frequency and severity of acute pain episodes. Unfortunately, the drug isn’t suitable for every patient.

There are other treatment options, such as blood transfusions, apheresis, a complex technique, and bone marrow transplants, which have been available in Quebec since 1980 and are the only cure we know of. According to Dr. Yvette Bonny, a national pioneer in this particular medical intervention, this treatment can’t be offered to everyone because of the risk of complications. All of these interventions, combined with monitoring by a multidisciplinary team, help improve patients’ quality of life.

Three new drugs have been approved by the Food and Drug Administration, or FDA. I will spare you their complicated names. The research that went into these drugs showed that two of them reduce the number of vaso-occlusive crises and therefore reduce pain. The third improves hemoglobin levels, which clears the anemia. These drugs have proven to be effective if used alone or in combination with hydroxyurea. That’s why it’s necessary to explore new paths of innovation for developing drugs adapted to a wider range of affected patients. This really rings true when we hear a grieving mother say, “we bury our children at a very young age. It is unfair and unjustifiable in 2023 in a country like ours.”

[English]

Here is why you should care about this framework. It will benefit health care professional awareness; the implementation of a research network; the creation of a national registry; full access to newborn screening; public awareness and needed financial support.

[Translation]

In 1971, President Richard Nixon promised research credits and patient care. The following year, in 1972, he signed a new act into law, the National Sickle Cell Anemia Control Act. In later years, a direct correlation was established between funds allocated by the National Institutes of Health and improvements in the quality and lifespan of patients living with sickle cell disease.

Canada must take action too.

Under this national framework, Bill S-280 will provide a six-point plan.

First, it will help mobilize medical regulatory bodies, nurses and other health care professions to encourage their members to learn more about sickle cell disease. It will also help enlist their participation in launching concrete initiatives that meet the training needs of health care providers to strengthen their skills. The development of clear guidelines will also help align practices to ensure a holistic, consistent and effective approach. In the words of one person we interviewed, this framework would fill “the gap in knowledge about the disease among some doctors, who often choose to simply treat symptoms rather than tackle the underlying causes.”

Second, the framework will provide for the creation of a national research network dedicated to advancing the understanding of sickle cell disease. This is a fundamental part of the framework. For example, the Sickle Cell Association of Canada is actively collaborating with the Canadian Hemoglobinopathy Association to promote research and facilitate data collection. This exemplary partnership demonstrates the importance of close collaboration between organizations, researchers and funders.

COVID-19 was a wonderful example of international collaboration that led to the creation of vaccines that are indispensable today. Some will say it was an emergency. However, it can happen again. There is a recent publication concerning gene therapy. It discusses molecular scissors known as CRISPR-Cas9, which will hopefully lead to a curative treatment. It partially restores normal blood formation and reduces, but does not completely eliminate, complications associated with the disease. It has been approved in the UK and is in the process of being approved by the FDA. Canada could also carve out an enviable place for itself in this rapidly developing field, while contributing to the well-being of its people.

Third, implementing this framework will help establish a national registry aimed at reducing existing disparities in the knowledge, diagnosis and management of sickle cell disease.

Dr. Smita Pakhalé, Chair in Equity and Patient Engagement in Vulnerable Populations, couldn’t agree more. In addition, Dr. Giguère says that one of the many advantages of a registry is that it would make it easier to contact people suffering from the disease, in the event of a cure being discovered.

Fourth, implementing this national framework will guarantee equal access to universal newborn screening and sickle cell disease diagnosis across Canada. This would ensure that appropriate care can be administered to all newborns immediately after birth and throughout their life.

Fifth, the framework will serve as a lever supporting national campaigns to increase awareness and understanding of sickle cell disease among the general public, and to better support the well-being of families and caregivers of people living with the disease. These public education efforts by community organizations will reduce the stigmatization of those suffering from the disease and create a supportive, inclusive environment for them and their loved ones.

Sixth, beyond exploring the feasibility of offering a tax credit to the families of people suffering from sickle cell disease, this framework will also look into the possibility of including these individuals in programs for people with disabilities.

This consideration is especially relevant, since many young adults stricken with the disease have a hard time keeping a job due to repeated hospitalizations and the debilitating chronic fatigue caused by the disease.

By integrating all of these aspects, we are seeking to develop a comprehensive framework that takes into account not only medical needs, but also the socio-economic challenges faced by individuals and their families.

Honourable senators, establishing a national framework for sickle cell disease responds to a UNESCO resolution adopted in 2007 and a resolution adopted by the UN General Assembly in 2008. These resolutions were adopted unanimously and recognized sickle cell disease as a public health issue.

In light of everything I’ve just said, it’s imperative to support the passage of this bill to fill the gaps that exist in terms of awareness, research and the national registry. In response to these challenges, we need to move Bill S-280 quickly through committee. I encourage you to head to YouTube and watch a 15-minute clip from an upcoming documentary called Silent Suffering — Sickle cell disease by Mamoudou Camara, which tells the story of a young man suffering from this disease. My office can send you the link, if you wish. Just as we did with cystic fibrosis, Canada can also show global leadership on all aspects of sickle cell disease.

I would like to thank a few people. I want to thank the specialists, Dr. Auray, Dr. Bonny, Dr. Pakhalé, Dr. Cénat, Dr. Giguère, Dr. Pastore and Dr. Soulières for their insightful comments. I also want to thank the presidents of the Canadian and Quebec sickle cell disease associations, Ms. Tinga and Mr. Sanon, for the work they do in that capacity and as parents, as well as for their enthusiasm and contagious perseverance in supporting my initiative when I decided to introduce Bill S-280. I want to thank Ms. Mouscardy, Mamoudou and Ismaël, who gave me a glimpse into their home life to help me understand what it is like to be a parent and a young person living with this disease.

It is your turn, honourable senators, to lend your support to Bill S-280 and send it to committee as quickly as possible. Thank you.