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rare disease associations yet to see impact of canada’s billion-dollar pledge

the canadian government committed $1.5 billion last year to rare disease strategy, but a lack of movement continues to affect small organizations dedicated to helping patients with rare diseases.

by angelica bottaro

published feb 28, 2024

last updated jul 03, 2024

8 minute read

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8 minute read

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the canadian government committed $1.5 billion last year to rare disease strategy, but a lack of movement continues to affect small organizations dedicated to helping patients with rare diseases. almost a year ago, the canadian government announced a $1.5 billion investment toward the state of rare diseases in the country. when the news broke, organizations that work tirelessly to help those with rare diseases were ecstatic—their already-strained budgets needed the assistance.

biba tinga, president of the sickle cell disease association of canada (scdca), was hopeful and optimistic for change when she heard the news because of what it could mean for the organization and their ability to help sickle cell patients across the country.

“we were all very happy. we thought it was going to happen immediately,” said tinga. “it’s going to be one of the most important investments that our government will do for our community.”

when the announcement was made, the government made a point to focus its billion-dollar pledge toward four specific pillars of rare disease strategy in the country, including:

providing consistent and affordable access to drugs for rare diseases across all provinces
supporting patient outcomes by establishing a more sustainable system through the creation of national governance structures
collecting and using evidence surrounding medication for rare diseases to ensure people are getting the proper medicinal support
advancing research in the rare disease space

unfortunately, there has been minimal movement since. in fact, organizations dedicated to rare diseases have yet to see a dime.

sickle cell disease in canada

sickle cell disease is a blood disorder that inhibits oxygen transportation through the body by causing hemoglobin, the protein in red blood cells that carry oxygen to where it needs to be, to become defective. these defective cells morph into sickles, crescent-shaped cells that stick together in groups, leading to blockages in small blood vessels. these blockages cause damage and complications that people with sickle cell disease must live with every day of their lives.

less than 7,000 people in canada have sickle cell disease. that said, the small number doesn’t mean it’s any easier for organizations such as the scdac to provide the support needed to help people within this community thrive. and for those who have sickle cell disease, living with it can feel hopeless.

“if you have sickle cell disease, you are left in a healthcare prison cage because you cannot just pick up and travel anywhere you want. you might not get the care you need. you need to stay in a specific area in a specific hospital to get the care you need,” said tinga.

sickle cell disease, much like other rare diseases, affects a small number of people, but the consequences affecting quality of life are dire. people with the disease have to cope with the symptoms, the most notable being widespread pain throughout the body.

while widespread pain is challenging to bear on its own, it isn’t the only harmful repercussion of the disease. people also have to contend with an increased risk of potentially life-threatening complications, including:

stroke
jaundice
anemia
acute chest syndrome
splenic sequestration
priapism
increased infections
leg ulcers
bone damage
early gallstones
kidney damage
eye damage
multiple organ failure

because of these complications, people with sickle cell disease have, on average, roughly 20 years cut off their total life expectancy, and many won’t live past 55 years of age.

“you can have a stroke; we have 10-year-olds having strokes. you can become blind because of sickle cell. you can have acute chest syndrome, kidney failure, heart failure, liver failure, and necrosis. i’ve had people who have had hip replacements by the age of 15 and shoulder replacements by the age of 20,” said tinga. “i want the community to know how painful—it’s one of the most painful diseases in the world. it’s a multisystem disease, and it’s also a family disease.”

sickle cell disease doesn’t just affect people who have it, either. loved ones and caregivers are also at the mercy of the disease, often leading to feelings of constant fear. tinga experiences firsthand how truly heart-wrenching it can be to care for someone with sickle cell because not only is she the ceo of scdac, but she is also the parent of a child with the disease.

“when my son was born, it was a death sentence handed to me. how are you going to raise a child and have a happy life when you’re told that your child is going to die? so, every time you raise that child, you raise it with fear,” tinga said. “the child himself is living with this fear and says, ‘i’m going to die.’ many of them get to age 30, and they’re like, ‘well, i didn’t put much effort forward in life because they told me i was going to die. now i’m 30, what do i do with my life?’”

being told from a young age that there’s an expiration date on your life is something no child should have to hear, and without added support from the government, children with sickle cell disease will continue to bear that weight. in some cases, waiting for the promised funds can mean the difference between life and death for people with sickle cell disease.

inequities and sickle cell disease: a lack of funding and blatant disregard

the communities most affected by sickle cell disease in canada are visible minorities, namely those who identify as black. in the past, equitable access to appropriate care has been stifled for people with sickle cell disease, mainly because of their need for blood transfusions and a lack of viable donors.

“the treatment options we have are hydroxyurea and blood. also, we have some barriers because the majority of people—even though it’s not only a black disease—the majority of people affected in canada are black,” said tinga. “we need phenotype blood and phenotype blood is found in people who share the same ethnic group.”

tinga goes on to explain that the blood donation system in canada doesn’t exactly meet the needs of those with sickle cell disease because of one specific barrier: malaria status. people who have contracted malaria at some point in their lives cannot donate whole blood or blood platelets in canada.

“we go into the community. we go into the churches, the mosques, and the community centers to talk to our community to tell them how they can save our kids’ lives. they donate blood. but when they go, they are being deferred. because there is what is called the malaria deferral,” said tinga. “if you’ve lived in a malaria-endemic region, which is most of africa, or the caribbean, you’ve had malaria. and if you’ve had malaria in your life once, you can never donate blood in canada. you are deferred indefinitely.”

while it’s essential to keep people safe from possible infections while receiving blood transfusions, this lack of donations has led to a shortage in phenotype blood for people who are black and living with sickle cell disease.

part of what tinga and the scdac do is advocate for high-level change that can benefit those who need it most. when it comes to the measures surrounding malaria and blood donation, tinga feels that it’s not based on any scientific research but rather a social injustice being done to those in marginalized communities.

“we are advocating because it’s a very unfair measure,” tinga said. “if you’re not going to bring the new drugs, blood is free because we give blood for free in canada.”

“we are asking as a community what the decision is based on if it’s not based on this. unless you bring us any scientific proof that there is another issue, then we are seeing that there is injustice being done to our community. you don’t bring the new drugs, then we want to donate blood, but we can’t because we’ve had malaria. yet, in canada, they’ve removed the hiv deferral. they’ve removed the mad cow disease deferral. but they are not removing the malaria deferral.”

in some european countries, such as germany, a test can be used to check someone’s malaria status. the test is designed to ensure that people who wish to donate blood to those communities in dire need of it can do so. however, canada has yet to adopt that same testing process, and those who have had malaria in their lifetime—the ones that are most likely to be able to help provide life-saving blood for people with sickle cell—are turned away, leading to a blood shortage.

“unfortunately, sometimes, they don’t have enough. the donor base is made of less than 1% of black people. it’s very low,” tinga said.

pushing for forward momentum to help those with rare diseases

the lack of forward movement from the government has left rare disease organizations, including scdac, in a lurch. at the same time, those organizations are forced to wait for the money they desperately need to make viable and actionable changes in the lives of those who suffer from rare diseases.

durhane wong-rieger, president of the canadian organization for rare disorders, continues to fight for the release and allocation of funds. but, with no news to report, the time on the clock continues as patients with rare diseases continue to cope with debilitating ailments.

rare disease day on february 29, 2024 is meant to spotlight rare diseases in the hopes that more people can get involved in organizations geared toward making the lives of those suffering more bearable. wong-rieger hopes that the current glacial pace of movement from the government will shift into high gear after the 29.

“this rare disease day could be a turning point toward action. we have been assured the monies are there, but obviously, they are not yet available to help,” wong-rieger said in an email to healthing.

in the meantime, organizations such as scdac will continue to practice patience while waiting for the government to pick up the pace and release the funds needed to change the state of rare diseases in canada.

“we want them to remember that even within those minorities, we need more support and more attention than any other disease. that will be my cry to say, please don’t forget about us. we need research; we need all the provinces to be screened for sickle cell. we need genetic counselling for those who have the trait. we need our government to invest in an ongoing campaign to raise awareness among people in the schools,” said tinga.

“bring the new drugs to canada. bring new research to canada. support our healthcare providers with the tools they need to better care for our community.”

angelica bottaro

angelica bottaro is the lead editor at healthing.ca, and has been content writing for over a decade, specializing in all things health. her goal as a health journalist is to bring awareness and information to people that they can use as an additional tool toward their own optimal health.

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rare disease associations yet to see impact of canada’s billion-dollar pledge

the canadian government committed $1.5 billion last year to rare disease strategy, but a lack of movement continues to affect small organizations dedicated to helping patients with rare diseases.

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