Some Hon. Senators: Hear, hear.

Hon. Wanda Thomas Bernard: Honourable senators, I rise today in support of Bill S-280, An Act respecting a national framework on sickle cell disease. Thank you to my colleague Senator Mégie for giving us a comprehensive overview of sickle cell disease. We are privileged to have her medical expertise to inform the chamber about the complex medical details and challenges of this hereditary disease impacting descendants of Africa, the Caribbean, the Middle East, South America and certain regions of India and the Mediterranean.

I would also like to thank my colleague Senator Cordy for being a champion of this issue for many years, including her work in 2017 to have National Sickle Cell Awareness Day recognized. I want to thank and recognize the work of the honourable Tony Ince, MLA for Cole Harbour-Portland Valley, who presented and supported Bill 396, An Act to Establish a Sickle Cell Awareness Day, in November 2023 in my home province of Nova Scotia. June 19 will now be observed as Sickle Cell Awareness Day in Nova Scotia.

I support Bill S-280 and urge that it be sent to committee to be studied as soon as possible. Sickle cell disease impacts people living at a particularly vulnerable intersection — the intersection of race and disability. With daily life being so significantly impacted by the forces of racism and ableism, I believe this framework has a particularly important role in improving the lives of Black people with sickle cell disease. This intersection is the result of systemic issues and policy gaps. It requires policy solutions like this framework.

I agree with the importance of creating a national research network, improving training and diagnostic tools, setting evidence-based national standards, creating equitable neonatal screening, supporting public awareness campaigns and implementing a tax credit for families.

Members of my extended family and kinship group have been impacted by sickle cell anemia. For many years, African Nova Scotians suffered in silence because this chronic illness was considered a taboo topic — one you didn’t talk about anywhere or to anyone. I am grateful for the leadership of people like Dr. Josephine Etowa, which began when she was a graduate nursing student — she had the courage to take a stand — and Rugi Jalloh, who has led the volunteer work in Nova Scotia and across Canada on this issue. Their efforts have helped to raise awareness, reduce stigma and create policy changes. Now, colleagues, it is time to broaden the scope of this work nationally, and Bill S-280 positions us to do that.

In 2013, the Nova Scotia government announced the introduction of the Maritime Newborn Screening Program. Dr. Josephine Etowa was — as I said earlier — a graduate nursing student instrumental in bringing the sickle cell screening of newborns to Nova Scotia. The ability to screen babies as early as possible saves lives. It means that babies can access life-saving treatments early, preventing irreversible damage, reducing future hospitalizations and preventing serious symptoms from developing.

Dr. Etowa studies racism in health systems, and through her research, she identified the issue of a lack of screening for sickle cell disease. This early screening program is an excellent working example of race equity in the health system. A test that in mainstream medical systems may not seem to make a remarkable change for most children has the power to make a significant change specifically for Black families and other racialized families whose quality of life would be improved with the knowledge of an early diagnosis. Essentially, colleagues, this is an example of bringing a culturally responsive lens to health care systems.

I consulted with Ase Community Foundation for Black Canadians with Disabilities, who stated that they are in support of Bill S-280 in principle due to the capacity the bill has to improve the lives of Black people with this chronic illness. They recommend that the bill explicitly recognize the intersectionality of race and disability and how anti-Black racism impacts health outcomes and access to support and care. They also suggest that the bill explicitly recommend the framework include culturally responsive training for health care professionals.

They stated:

Bill S-280 represents a crucial step toward recognizing and addressing the unique challenges Black Canadians face with sickle cell disease.

When this bill goes to committee, I encourage you to invite Dr. Etowa and the Ase Community Foundation as witnesses. You will be enlightened.

The Sickle Cell Disease Association of Atlantic Canada recently sent out a newsletter, and in it the founder and President, Rugi Jalloh, recounted an interaction they had when they asked a person with sickle cell disease how they were doing. Their response was, “It hurts to breathe, but hey, I’m glad to be alive.”

They shared that this person was unable to attend the entire semester at university due to multiple hospitalizations, even with the usual educational accommodations that were offered. I share this person’s story to highlight how sickle cell disease can prevent people from accessing education and, subsequently, meaningful employment.

Honourable colleagues, for a person with sickle cell disease, the impact touches every area of their life, and a framework addressing this disease has the capacity to change lives for Black Canadians who live with sickle cell anemia.

I believe their lives are worth it. I urge you to see the importance of supporting Bill S-280, and I look forward to the committee work our colleagues will do to examine the whole impact of this proposed framework.

Asante. Thank you.

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

The Hon. the Speaker: Technically, you should be asking a question, but you can make your comment.

The Hon. the Speaker: Senator Mégie, do you have another question?

Hon. Marie-Françoise Mégie: I sincerely thank Senator Burey for agreeing to be the critic for this bill. I am truly happy about that.

Before I answer your question, I would like to ask you one myself.

When health care professionals are taught about the different hemoglobinopathies, including sickle cell disease, is sickle cell disease the only one that’s covered, or are all the other ones included as well?

[English]

Hon. Sharon Burey: Thank you so much, Senator Clement. This is a very important point. I want to return to something that Senator Cordy mentioned in her speech when it was the Honourable Dr. Jean Augustine who spoke about sickle cell disease and everyone said, “What is that?” not knowing that it affected so many Canadians.

The lack of awareness is one of the reasons why there is so much stigma associated with it. We spoke of the vaso-occlusive crisis, which are painful events when you come in and you are thought of as a drug-seeking person so you are stigmatized and not given appropriate pain medication. We already know from many research studies that when racialized people go to the hospital asking for pain medication, their pain score is thought to be not as relevant as someone from another ethnic group.

We know there is a lot of work to be done. I think that having this bill to raise awareness will help to decrease that stigma. It will also allow people to talk about it — I’m talking about people who are suffering from sickle cell disease — so that it will be able to enter the conversation. We all know about mental health and how, for a long time, we know that it came out of the Senate in Out of the Shadows at Last, the mental health report that was so important. Talking about it brings things out of the shadows. That is what is really important.

[Translation]

Hon. Bernadette Clement: Senator Burey, will you take a question?

Hon. Senators: Hear, hear.

Hon. Sharon Burey: Colleagues, I rise today to speak to Bill S-280, An Act respecting a national framework on sickle cell disease.

This national framework must include measures to increase awareness, address training needs, create a national research network and a national registry, ensure equitable access to neonatal screening and consider an analysis of the financial impact on patients and families.

[English]

I will be speaking as the critic of this bill and, colleagues, this is my first attempt at being a critic.

Hon. Jane Cordy: Honourable senators, I am pleased to speak today at second reading of Bill S-280, An Act respecting a national framework on sickle cell disease.

I must begin by thanking the sponsor, Senator Mégie, for introducing this bill and working so hard on behalf of Canadians living with sickle cell disease and their families.

I would also like to thank the Senate’s Black Caucus members, who hosted a wonderful event last June here, on Parliament Hill, to celebrate Sickle Cell Awareness Day.

I have been fortunate enough to meet many Canadians living with sickle cell, their families and their caregivers. Many of these families and caregivers have been advocating for what is laid out in Bill S-280.

Many parents have shared with me stories of their experiences raising children with sickle cell disease — the desperation and fears pre-diagnosis, not knowing why their infant children were under such distress and the feeling of helplessness trying to alleviate their children’s pain.

Many families felt it was only luck that their children with sickle cell disease were properly diagnosed by a family doctor familiar with the disease and its symptoms, and that they were told how best to treat it. Early diagnosis and treatment plans give the best chance at providing a positive quality of life for many living with sickle cell.

I have heard other stories from families about the difficulties they have faced in getting a proper diagnosis: children in and out of the ER on a regular basis while experiencing severe pain that had not been diagnosed. Doctors and health care professionals who were less knowledgeable about sickle cell disease would be at a loss as to the causes of this pain. In some cases, if the patient was a teenager, I have heard unfortunate stories about them being labelled as addicts just trying to game the system for pain prescriptions in the emergency department. Fortunately, this is starting to change as more and more people are doing research in sickle cell disease.

Awareness of sickle cell has long been a barrier to early proper diagnosis in Canada. Although sickle cell disease is the world’s most common human genetic disease, it has been relatively unknown in Canada until recent years. I have told the story before of how, in 1997, the great Jean Augustine was the first parliamentarian to raise the issue of sickle cell disease in either house of Parliament. To highlight how little sickle cell was known, the health minister at the time, Allan Rock, told Jean that he didn’t know what sickle cell disease was. To his credit, a week later, he told her that he had gotten a full briefing on the disease.

I am so pleased that awareness of sickle cell has increased significantly over the last number of years. Provincial sickle cell associations, along with the national association, have made great strides in educating communities, health care professionals and legislators. As Senator Mégie has pointed out, many provinces are now performing automatic newborn screening for sickle cell disease and the sickle cell trait. I was pleased that Nova Scotia was the third province to do automatic newborn screening, following Ontario and British Columbia.

I must mention the good work that the sickle cell disease associations across Canada are doing to create positive changes in care for those with sickle cell disease. I have worked with Lanre Tunji-Ajayi, President of the Sickle Cell Awareness Group of Ontario, and Biba Tinga, President of the Sickle Cell Disease Association of Canada. These women and other volunteers have done incredible work as sickle cell advocates. Many of you met Biba at the sickle cell event on Parliament Hill in June. I thank all these volunteers who have made a huge difference in the lives of those with sickle cell disease and their families.

Honourable senators, we have made tremendous progress on making Canadians aware of sickle cell disease. When I first spoke about the issue in the Senate, very few senators had heard of sickle cell. The “friendly” critic for my National Sickle Cell Awareness Day Bill, former senator Carolyn Stewart Olsen, had been a nurse before her political career and knew about the disease and spoke in favour of the bill.

Awareness has provided an important first step, but it is time to move beyond awareness and to expand resources on a national scale and to provide national supports.

Nationally, we have somewhat of a patchwork system in recognizing, diagnosing and treating sickle cell disease. Different provinces and territories have developed different policies when it comes to the disease. For instance, not all provinces and territories perform automatic newborn screenings.

We are lacking proper data on the disease and on those who are carriers of the sickle cell trait. It is hard to move forward without good data. As Senator Mégie mentioned, research funding, particularly in the form of grants, is virtually non-existent for sickle cell.

I was fortunate enough to be invited to tour the largest sickle cell treatment clinic in the country, which is located in the Toronto General Hospital. The IWK Health children’s hospital in Halifax has also been a leader in researching and treating sickle cell disease. These are two hospitals, with tremendous staff, that are doing great work.

A problem persists where our larger population centres may be well served, but as you move away from those centres into smaller, more rural areas, Canadians begin to experience more difficulties. Bill S-280 will help to address these limitations.

I am encouraged to see the call for the federal government to take a leadership role in developing a national framework which will provide for the creation of a national research network to advance research, improve data collection and establish a national registry on sickle cell disease; include measures to address the training, education and diagnostic and treatment tool needs of health care professionals relating to sickle cell disease; and set evidence-based national standards for the diagnosis and treatment of sickle cell disease.

I am also happy to see the inclusion of an analysis respecting the implementation of a tax credit for individuals with sickle cell disease and their caregivers.

I have spoken to so many parents who talk to me about the hardships they face as their child, or children, live with sickle cell. Children can miss months of school and be in and out of hospitals for pain treatment. During this time, many parents are unable to work outside the home as they care for their children. Any financial relief, even the possibility of a tax credit, would help in some small way to support those families through difficult times.

Honourable senators, a national framework is long overdue. Since that first speech in 1997 by the Honourable Jean Augustine in the other place, it has been almost 37 years.

I am fully supportive of Bill S-280, the national framework on sickle cell disease act, moving forward to committee and I look forward to examining the legislation in committee.

Thank you.

(On motion of Senator Martin, debate adjourned.)

Hon. Mohamed-Iqbal Ravalia: Honourable senators, I rise today in support of Bill S-280, An Act respecting a national framework on sickle cell disease. I applaud our colleague Senator Mégie for her extensive consultation with physician specialists and the presidents of the Canadian and Quebec sickle cell disease associations, as well as patient advocates, in helping to develop this bill. I would also like to recognize our colleague Senator Jane Cordy, who championed the designation of June 19 as National Sickle Cell Awareness Day in 2017.

As Senator Mégie has clearly outlined, this bill aims to bridge the current gaps in sickle cell disease knowledge, diagnosis and management. It aims to raise awareness amongst health care providers, improve research and facilitate evidence-based knowledge exchanges through a national registry. It will also help address the existing disparities, and ensure equal access to universal newborn screening and diagnosis.

In Canada, an estimated 6,000 Canadians live with sickle cell disease, and approximately 1 in 2,500 newborns will have the disease.

Sickle cell disease is a hereditary blood disorder characterized by abnormal hemoglobin — the protein responsible for carrying oxygen in red blood cells. The condition primarily affects individuals of African, Mediterranean, Middle Eastern and Indian descent. These deformed red blood cells can block blood vessels, leading to a reduction in oxygen supply to the tissues — the so-called vaso-occlusive crisis.

Individuals living with sickle cell disease frequently experience these crises, characterized by severe pain due to blocked blood vessels. These episodes can occur anywhere in the body, and often necessitate hospitalization for pain management and hydration.

The destruction of sickle cells can lead to chronic anemia, causing fatigue, weakness and pallor. It can also increase susceptibility to infections.

Prolonged vaso-occlusion can result in damage to other organs, often affecting the liver, kidneys, lungs and bony skeleton. Over time, this leads to chronic organ dysfunction.

Sadly, sickle cell disease also increases the risk of stroke, particularly in children. The abnormal blood flow causes sickle cells to clog up arteries, leading to brain damage and neurological deficits.

Honourable senators, in my own experience during my training as a physician in Southern Africa, I witnessed the tragic consequences of this disease and its devastating impact on the quality of life of those affected.

Many countries have implemented newborn screening programs to identify infants with sickle cell disease early, allowing for prompt intervention and management. With our changing demographics, it is imperative that we standardize these screening programs across the country to target at-risk populations.

Addressing pain is a crucial aspect of the management of sickle cell disease. Pain-relief strategies may include medications, physical therapy and psychological support. However, individuals with the disease are often labelled “drug seeking” and denied appropriate medications for pain relief, particularly in settings where there is a poor understanding of the disease and its devastating sequelae.

Despite advances in the understanding and management of the disease, challenges persist. As Senator Mégie outlined, access to comprehensive care, including specialized clinics and medications, remains elusive in many parts of our country.

Sadly, the spectre of anti-Black racism rears its ugly head in the overall response to individuals living with sickle cell disease. These unaddressed issues of racism within the health care system against individuals who are susceptible to the disease create additional barriers to care for those who need it most.

The lack of funding for research in Canada puts us at a significant disadvantage and needs to be addressed by the funding agencies and federal government. There holds strong promise for curative potential using gene therapy and gene-editing techniques, a transformative development that is now available in the United Kingdom.

Colleagues, sickle cell disease is a complex genetic disorder with a wide-ranging impact on the health and well-being of affected individuals. Ongoing research, improved diagnostics and enhanced access to specialized care are essential in mitigating the complications associated with it.

As we move forward, a multi-faceted approach involving medical, genetic and social interventions is crucial to improve the quality of life for those living with this challenging condition.

Honourable senators, this is an important bill and should be referred to committee for further study and consideration.

I thank you. Meegwetch.

(On motion of Senator Martin, debate adjourned.)

Hon. Amina Gerba: Honourable senators, one of the Senate’s mandates is to defend our country’s minorities. In that sense, we have a duty to ensure the well-being of the most vulnerable.

I rise today to firmly support Bill S-280, An Act respecting a national framework on sickle cell disease. I salute and congratulate Senator Mégie for introducing this crucial bill.

I am not a doctor and definitely not an expert on this terrible hereditary genetic disease, which is transmitted through the parents and affects people from birth.

I’m speaking to this bill because I have known and know people, families and friends living with this disease that our colleague so eloquently described in her speech at second reading.

Senator Mégie explained that sickle cell disease is a genetic condition that affects a significant number of Canadians, especially those who come from Africa, the Caribbean, the Middle East, Central and South America, certain areas of India and the Mediterranean Basin.

However, honourable senators, it would be a mistake to think that those with different origins are safe. We live in a world where populations intermingle and unions of persons of different origins are becoming more and more common. The possibility that the gene could be transferred from one group to another does exist. We must therefore act now for the future of all our people.

Let me tell you a personal story. When my husband and I got engaged in Cameroon in 1984, the civil registrar demanded a screening test for sickle cell disease. The hemoglobin electrophoresis test, as it’s called, showed — thank God — that our results were both negative. I had never heard of that disease before. By confirming that we were both negative, we were allowed to get married with no risk to our future children. I could say that we were lucky.

Imagine two people in love who learn that one or both of them are carriers of that gene. That terrible news means that they have to make a decision with far-reaching consequences: to form a union in full knowledge of all the risks.

Then comes the dilemma: to form a union knowing that they are likely to have children who will carry the gene and have a high probability of developing the disease, or choose not to have children. At the time, in Cameroon, the life expectancy of people suffering from serious forms of sickle cell disease was barely above 20 years, mostly due to the poor state of the country’s health system.

Coming back to the people around me in Quebec, where I live, several people who are close to me have the disease. I will give you just a few examples of the people I have personally known.

I have seen Lisa’s pain attacks and frequent hospitalizations. Lisa is my hairdresser’s daughter. She suffers from the most severe form of the disease and requires frequent medical attention, which affects her and her family’s quality of life.

This obviously impacted her studies, which she never finished. At 35 years of age, she has never been in a romantic relationship. Lisa desperately lacks in self-confidence. She struggles with fear, loneliness and anxiety every single day.

I can also tell you the story of my friend Mario, who, unlike Lisa, is an accomplished professional. Mario decided to fight the disease by tackling it head-on. He understood from an early age that he was not gifted with the health of an athlete, so he has always known that he would attain his dreams through education and intellectual work, even with this disease.

He graduated with high honours from some of the most prestigious universities in the world, despite having had to be hospitalized regularly throughout his life. Married, with one child, Mario is diligent in getting his treatments and has found creative arrangements around his professional and personal life to be able to live as well as possible with this disease. This helped him develop a great sense of empathy towards others.

To summarize, colleagues, despite the difficulties they face, people with sickle cell disease accomplish extraordinary things in life and for our society, even if they sometimes have to hide their medical condition in order to advance in demanding professional environments that leave little room for vulnerability.

What most inspired me to give this speech was the story of Mamadou Camara, the director of a docufiction pilot project entitled “Suffering silence.” We invited Mamadou to the Senate, and Senator Mégie and I organized a screening of his film in the Senate in June. Mamadou suffers in silence. He plunges us into the intimate life of a family to show us the parents’ distress at their powerlessness to relieve their child’s suffering.

It helps us understand the anxiety felt by carriers of the gene and their families. As Mamadou says, he lives with a death sentence, a sword of Damocles dangling over his head.

Colleagues, sickle cell disease has serious implications for family dynamics, affecting the emotional, physical, psychological and financial health of those close to the patient.

This bill is important for several reasons: it will improve awareness among health care professionals, create a national research network, establish a national registry, ensure universal access to neonatal screening, promote public awareness and provide the financial support needed to advance research into this disease.

As Senator Mégie said so well, far too few health care professionals are aware of the disease and its symptoms. As a result, when some sufferers having an attack arrive at emergency rooms, they are often misdiagnosed, which leads to poor management and care, or even an underestimation of the care that is required. In 2023, in Canada, that is not acceptable.

This disease requires a consistent and proactive approach from our government. By establishing a national framework, we can guarantee equitable access to health care and support for patients and their families.

By voting in favour of Bill S-280, we are helping to build an ecosystem that will give every child a fulfilling, stigma-free life and equitable access to health care, regardless of their genetics or background.

Congratulations, Senator Mégie.

Thank you, colleagues.

(On motion of Senator Martin, debate adjourned.)

[English]

On the Order:

Resuming debate on the motion of the Honourable Senator Martin, seconded by the Honourable Senator Marshall, for the second reading of Bill C-288, An Act to amend the Telecommunications Act (transparent and accurate broadband services information).

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

The Hon. the Speaker: Is it your pleasure, honourable senators, to adopt the motion?

Hon. Donald Neil Plett (Leader of the Opposition): Thank you, Senator Mégie, for that speech. I’m sure there are many colleagues who will want to enter the debate on this, but, the time being almost 10:30 p.m., I would like to test the will of the Senate by moving the adjournment of the Senate.

Therefore, I move:

That the Senate do now adjourn.

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.

Hon. Senators: Hear, hear!

[English]

Hon. Senators: Agreed.

(Motion agreed to.)

(At 10:25 p.m., pursuant to the order adopted by the Senate earlier this day, the Senate adjourned until 2 p.m., tomorrow.)

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.