Helping people with rare blood diseases
The Aplastic Anemia and Myelodysplasia Association of Canada (AAMAC) was founded by the family of a child affected by aplastic anemia. Their primary goal was to advocate for a national bone marrow donor registry. When this effort was successful, the organisation didn’t stop there! Aplastic Anemia and Myelosdysplasia are rare diseases, which are any diseases and conditions that affect fewer than 1 person in every 2,000.
Today, the AAMAC stretches across Canada and provides a seamless support network for every person, family member, friend, caregiver, and healthcare provider who suffers from or supports someone with one of three rare blood diseases: aplastic anemia, myelodysplasia, and paroxysmal nocturnal hemoglobinuria. You’ve probably never heard of these diseases, but the people who suffer from them need urgent help, especially during the coronavirus pandemic.
What’s so urgent?
Before the pandemic, dealing with a rare disease was frightening, isolating, as well as financially and emotionally burdensome. Even with AAMAC support but lacking a national strategy, people with rare blood disorders would struggle to get an early diagnosis, the best treatments available, and support they need during remission. Since the coronavirus outbreak, not only are they at higher risk of complications if they become infected, but they have to navigate an overwhelmed healthcare system. More than ever, they need special care. The first step in that direction is a national strategy for rare diseases.
What are these rare blood diseases?
In aplastic anemia, an autoimmune disease, the body fails to produce sufficient numbers of blood cells: white, red, and platelets. In bone marrow biopsies, blood stem cells are mostly gone, replaced by fat. Aplastic anemia strikes people of any age, race, or gender. Statistically, it’s more common among children, teens, and older adults and It’s more likely to occur in people of Asian heritage.The cause is elusive and unknown in half of patients. About 8 of 10 people with aplastic anemia get better after treatment with a debilitating cocktail of immunosuppressant drugs or a bone marrow transplant. Relapses are common.
Myelodysplasia (MDS) are a group of blood cancers in which immature blood cells fail to become healthy blood cells. MDS mostly affects seniors; the average age of diagnosis is 72 years of age. It strikes men more than women and, most often, Caucasian (white) Canadians. Most MDS have no identifiable cause. There is no cure. Remission is possible with treatment.
The severity of MDS lies on a spectrum from low to high risk. Life expectancy for people with low-risk MDS is about 5 years or more. About 30% of sufferers develop a life-threatening disease called acute myeloid leukemia (AML). Once AML happens, it progresses quickly, and immediate treatment is essential to prolong life.
What is paroxysmal nocturnal hemoglobinuria (PNH)? More than a mouthful of jargon, PNH is extremely rare. In the USA, which has 10 times our population, only 500 people per year are diagnosed. PNH strikes people of any age, race, or gender.
In PNH, a life-threatening disease, the body’s immune system attacks and destroys red blood cells (RBCs). The RBCs have a defective cell receptor that effectively waves a “Kill me!” flag that targets them for destruction.
PNH is acquired, not inherited, but no one knows how. It may occur secondary to other blood diseases, such as aplastic anemia. The only cure, allogeneic bone marrow transplant, has high risk and complication rates. A new but extremely expensive monoclonal antibody has revolutionized therapy in recent years, improving survival and lessening the need for transplant.
How would a national strategy for rare diseases help?
Even in normal times, scientific understanding and clinical expertise of rare diseases are limited and fragmented across Canada. A national strategy for rare diseases would help people with rare diseases to get the same level of care and support as other patients in the Canadian healthcare system. During this pandemic, a national strategy would protect people with rare diseases to navigate the system better. Their special needs would be acknowledged and procedures would be in place to help them to get the care that they so desperately need in a safe and timely way.