Innovative Medicines Canada (IMC) recently spoke with Biba Tinga, President and Executive Director of the Sickle Cell Disease Association of Canada and mother whose son, Ismaël was diagnosed with the rare disease.
IMC: When did your family’s journey first begin with sickle cell disease (SCD)?
Biba: Our story began in 1988 in Niger, Sub-Saharan Africa. About six months after my son’s birth, he developed a fever that was mistaken for malaria. After a week-long treatment, we had to rush him back to the clinic. During this second visit, the doctor noticed his puffy face, yellow eyes and asked for him to be tested. We received a Sickle Cell type SS diagnosis, which was a death sentence: about 50% of children born with SCD, in that part of the world, die before the age of five.
Less than a year later, my son had already been transfused five times. It was evident that he had sickle cell anemia and would need many more blood transfusions over the course of his life. With the advent of Acquired Immunodeficiency Syndrome, we also had the additional fear of him contracting this virus.
When we arrived in Canada, in 2004, Ismaël had a three-year growth delay compared to other children his age and was in constant pain. After a few years, with access to better treatment options like hydroxyurea, his health improved. However, as he grew and we managed to survive crisis after crisis, I realized that there were so many critical gaps in the care for SCD patients in Canada. One of the important factors has to do with where you live. Once you leave major cities like Montreal, Ottawa or Toronto, not only is it exceptionally difficult to find a physician who has or can treat a person with SCD, but there are no facilities or health care protocols to apply life-saving treatment in time!
IMC: What has your experience been like raising a child with a rare disease such as SCD?
Biba: Raising a child with SCD not only affects the patient and the caregiver, but the entire family dynamic is impacted as there is a disproportionate amount of time spent caring for the child with SCD. In many cases sacrifices have to be made in other parts of the family life. Caregivers face significant daily challenges and barriers to pursue their own careers, personal pursuits and goals. They spend hours looking for basic care, spending time in hospitals and advocating for their child. The adult population living with SCD face their own challenges. It is well documented by evidence-based studies that they suffer from the stigma of being labelled as drug seekers by the healthcare system – which can result in delayed or no essential care, to the detriment of maintaining a normal social and professional life.
Living with SCD deprives you of a full life because of the constant pain and a shorter life expectancy. This means simple expectations like finishing school, having a full-time job, having a relationship and raising a family are denied or severely restricted. These are some of the harsh realities of living with a rare or ultra-rare disease!
IMC: As President and ED of the Sickle Cell Disease Association of Canada what do you hope to see change over the next few years in Canada in regard to the community’s ability to access innovative medicines and treatments?
Biba: The only drug available for the treatment of SCD is hydroxyurea, which is a cancer drug that was made available to our community in Canada in the late 1980s. After prolonged usage, many patients see diminishing effectiveness and increased serious side-effects. The only available cure is a bone marrow transplant, but due to eligibility criteria this treatment is inaccessible to about 80% of SCD patients.
For the past 30 years, the Sickle Cell Community has only had supportive care, which means trying to mitigate the symptoms by using pain killers, antibiotics and blood transfusions. Aging patients are living with multiple complications and the well documented social stigma that comes with the need for opioids to control the pain.
Between July 2017 and November 2019, the U.S. FDA approved three new drugs specifically targeted for people with SCD. As of today, none of these drugs are available in Canada.
We need new treatments to address the many differences that each SCD patient has to ensure quality of life and equity in care for Canadians living with any disease. This is why many more common diseases have multiple options, since one treatment will not address the entire population. Physicians need to have these options to provide a personalized medicine strategy for their patients, or we risk helping only a few but leaving many behind.
IMC: How would the July 1, coming-into-force of the new Guidelines and Regulations from the Patented Medicines Prices Review Board (PMPRB) impact the sickle cell community and more broadly those living with rare diseases in Canada?
Biba: Any regulation that is going to prevent or delay medicines for rare or ultra-rare diseases from coming to Canada is going to negatively impact us. As a community, we are always worried about access to the equitable and effective care. With only supportive care, and with people now living past their 30th birthday, we are at a critical juncture: any delay in treatment accessibility – even by a year – increases the risk of major health complications. This not only adds a longer-term increased financial and resource burden on our health care system but results in heightened and additional quality of life issues for this vulnerable population.
We are concerned since we have not seen any substantive reassurances that these new regulations will not delay or deter these treatments from coming to Canada. We have not been assured that this promotes Canada as a viable and attractive destination for any research and treatments. We need to be shown, in a clear way, that these new regulations will be beneficial for Canadians living with SCD.
The lives of Canadians living with a rare or ultra-rare disease are at stake, the lives of families are at stake, and the long-term continuing mitigation cost to the health care system is at stake.
IMC: What message would you give to Canadian patients living with rare diseases, like SCD?
Biba: Being a caregiver for a young adult living with SCD gave me a unique understanding of the needs of individuals and families dealing with this disease. For 30 years, I have experienced great changes in SCD care. We went from a certain death sentence to the hope of getting cured through gene therapy and treatments that work more effectively to manage symptoms.
Clinical trials are showing promising results. As we wait for these innovative therapies, our community must prepare and be ready to help decision makers understand the urgency of our situation. Therefore, the Sickle Cell Disease Association of Canada, SCDAC, is implementing a national registry for Sickle Cell Disease because is it the only way for us to be officially counted and visible, in an evidence-based way, in the healthcare system.
Being counted means showing what better care looks like, having access to more treatment options, and how it results in a better quality of life. We must therefore unite and work together as a single strong unified voice: one community made more powerful by the unified voices of all.