Blood Health
What Can the Rare Disease Strategy Learn from Rare Blood Disorders?
In 1997, the federal government began the transition of the entire system for collecting and distributing blood and blood products from the Canadian Red Cross to two independent agencies. One year later, the Canadian Blood Services (CBS) and Hema-Québec (HQ) were launched. For the past 25 years, they have served as the stewards for safe and adequate blood and plasma for transfusion purposes as well as timely and equitable access to innovative therapeutics for rare disease blood patients.
Is this the model for all rare disease patients? In 2019, when the federal government announced $1 billion to set up Canada’s Rare Disease Drug Strategy, was CBS and HQ what they had in mind? A centralized drug purchasing and distribution system with a “national” formulary, paid for by a combination of federal and prov-
incial/territorial funds? How could it work? $1 billion is a lot of money but it would hardly cover all therapies for all rare diseases. Which diseases and which drugs would qualify, and who would decide? Would provinces agree to a cost-sharing plan, especially if they could not control access?
Importantly, what would be the role for the private drug plans?
Investment in new and innovative therapies that best meet the individual needs of each patient is not only good for the patients but is cost-effective and sustainable for the governments.
As importantly, would Canadian patients buy in? One key to success for CBS and HQ is that the agencies have demonstrated that investment in new and
innovative therapies that best meet the individual needs of each patient is not only good for the patients but is cost-effective and sustainable for the governments. Finally, the assurance of patients as equal partners within the system has been vital. The Canadian Organization for Rare Disorders is committed to the success of Canada’s Rare Disease Drug Strategy and looks forward to the implementation and the inclusion of patients in decision making throughout the system.
CORD calls for access to $1.4 billion in Rare
Durhane Wong-Rieger, PhD
The rare disease (drug) strategy can learn from the Canadian Blood Services and Hema-Québec for Rare Blood Disorders.
Durhane WongRieger, PhD President & CEO, Canadian Organization for Rare Disorders
Treatment Advancements Changing Lives of Individuals with Multiple Myeloma
Innovative research is leading to key advances in therapies and prognosis for people with this blood cancer.
Abigail Cukier
Rinat Avitzur says being diagnosed and treated for multiple myeloma changed her perspective on life.
“You live for the day. I used to think I would start travelling later in life, and during treatment I realized why wait?” says Avitzur, who was diagnosed with multiple myeloma in February 2020 at age 55.
Multiple myeloma, also known as myeloma, is the 2nd most common form of blood cancer affecting thousands of Canadians each year and, as of yet, is without a cure. Signs and symptoms may include bone pain, fatigue, weakness, recurring infections, or anemia. Too often, these are attributed to aging, stress, and/ or other conditions, making a diagnosis a long and trying process. “We need to increase awareness for this complicated disease so people can be diagnosed earlier and experience better outcomes.” stated Martine
Elias, Executive Director at Myeloma Canada. Elias continued, “September is Blood Cancer Awareness Month. While we raise awareness for myeloma all year long, our annual fall event, the Multiple Myeloma March brings communities together to also support research and promising treatment breakthroughs that are bringing the reality of a cure closer each day.”
After chemotherapy and two stem cell transplants, Avitzur is in remission. She travels, loves to walk and has returned to running. She actively represents the patient voice nationally, is a co-chair of the Toronto & District Support Group, and is on Myeloma Canada's Patient Advisory Council.
I am hopeful. When I was diagnosed, I was told that myeloma is treatable but not curable. Today they say that a cure is within reach.
Physical, mental and social support is key Avitzur acknowledges that every person is different, and advises newly diagnosed individuals to seek support from family and friends. “You can't go through this alone. I am a mother of three, a wife, a daughter, and a sister. I am not usually the one getting support,” she says. “But you have to be OK with accepting physical, mental, and social support.”
Avitzur also suggests to keep learning about the disease and new and advanced treatments. “I am hopeful. When I was diagnosed, I was told that myeloma is treatable but not curable. Today they say that a cure is within reach.”
Learn more at myeloma.ca
MyelomaCanadaistheonlynationalcharitableorganizationcreatedby,andfor,Canadiansimpactedbymultiplemyeloma.Theorganization's promiseistoimprovethelivesandempowerallCanadiansaffectedbymyeloma,accelerateaccesstothebestcare,whilesupportingthepursuitof itscureandprevention.MyelomaCanadahasbeenmakingmyelomamattersinceitwasfoundedin2005.Everyday,11Canadiansarediagnosed withmyeloma.Inspiteofitsgrowingprevalence,thediseasestillremainsrelativelyunknown.
Martine Elias Executive Director, Myeloma Canada
Rinat Avitzur Living with Myeloma
Advances Bring Hope to Acute Myeloid Leukemia Patients
Acute myeloid leukemia (AML) is the most common blood cancer in older adults. With new treatments, patients are living longer and better.
In October of 2021, Shawn Omstead of Toronto and his wife were preparing to host Thanksgiving dinner.
“I noticed I didn’t have much of an appetite. A few weeks earlier, while visiting my sister up north, I noticed some shortness of breath while going for a walk,” says Shawn, then aged 55.
Shawn was due for his annual physical but planned to postpone it until after he and his wife returned from a trip abroad to celebrate their 30th wedding anniversary. Given his symptoms, Shawn’s wife suggested going for his check-up before the trip. That turned out to be a wise decision.
“The blood work results showed red flags everywhere,” he says. The diagnosis was acute myeloid leukemia (AML).
A complex blood cancer with many subtypes
AML is a cancer of stem cells.
“These are basic cells that develop
into different types of cells, such as red blood cells, platelets, T-cells, and B-cells, which all have different jobs for our daily functioning,” says Dr. Mark Minden, Clinician Scientist Emeritus at the Princess Margaret Cancer Centre, in Toronto. As stem cells develop, they become blast cells, which are immature blood cells.
“With AML, the stem cells acquire mutations that cause an overproduction of these blast cells,” says Dr. Minden. These blast cells accumulate in the bone marrow and spill out into the bloodstream, preventing proper growth of normal blood cells and causing improper functioning of the blood system. “It
These are basic cells that develop into different types of cells, such as red blood cells, platelets, T-cells, and B-cells, which all have different jobs for our daily functioning.
develops quickly and is usually discovered after the onset of symptoms. Without treatment, AML is fatal because of the bone marrow failure,” says Dr. Minden. AML is a complex disease with many subtypes. Because of this, symptoms can be variable and wide-ranging, and can include weakness, fatigue, fever, infection, paleness, loss of appetite, bleeding, easy bruising, and shortness of breath. AML is the most common type of leukemia in older adults, with the average age being around 60.
Chemotherapy and stem cell transplant
To say that Shawn was in shock
at his diagnosis is an understatement. “I exercised regularly, ate well, didn’t smoke, and have no family history of cancer,” he says. Shawn started treatment as an outpatient at the Princess Margaret Cancer Centre in December 2021 for the first phase of his treatment, a month-long regimen of chemotherapy. The same day, the search began for a suitable donor for the bone marrow transplant he would need for the treatment’s second phase. In a stroke of luck, his brother and sister ended up being a perfect match. “That was amazing considering the probability of a sibling being a match is only about 25 per cent,” he says. Shawn was also fortunate to be offered an experimental chemotherapy drug at the last minute which proved effective in getting him into remission quickly.
In March of 2022, Shawn had his bone marrow transplant. “That’s never a straight-and-narrow path for anyone and there
Anne Papmehl
Shawn Omstead and family Family photoshoot taken 14 months post-transplant
are lots of side effects,” he says. In addition to infections, mouth sores, and strep throat, Shawn experienced graft versus host disease (GvHD), a condition whereby the donor’s stem cells attack the patient’s own body cells.
Sixteen months post-transplant, Shawn went back to work. “I left my executive job and now work 50 per cent of the time as a consultant, but I feel amazing and obviously my brother donating his stem cells was huge. I wouldn’t be here without him,” he says.
Innovations for AML patients
With expanding research, new AML treatment options are emerging. “While chemotherapy and stem cell transplants remain standard treatment, researchers are finding ways to make them more effective and with fewer side effects, and this includes factors like GvHD for bone marrow transplants,” says Dr. Paul O’Connell, Research Program Lead at the Leukemia and Lymphoma Society of Canada (LLSC), a national nonprofit organization.
New developments in targeted therapy and precision medicine are also showing promise. “Mutational testing, for example, lets physicians see the cell mutation occurring in a person’s leukemia and then target that specific
mutation, which allows for a more effective therapy that’s less harsh on the patient,” says Dr. O’Connell.
Other recent developments include immunotherapies that harness the body’s immune system to target AML. Researchers are also looking at therapies that can eliminate leukemic stem cells post-treatment. “These cells often appear in very low numbers and can cause relapse because they’re resistant to treatment. New research aims to develop therapies that target and eliminate cancer stem cells, so that the cancer doesn’t return," says Dr. O'Connell.
I tell everyone to go annually for a blood check. If I hadn't gone, I don't know whether I'd be here today.
the Canadian Cancer Survivor Network (CCSN) offer support, advocacy, and information resources to patients with AML and their families. “The CCSN believes that all cancer patients and their caregivers should be well-informed about their cancers and treatment options available to them, including AML,” says Jackie Manthorne, President and CEO of the CCSN.
Dr. Minden credits the patients themselves for many of these advancements. “Their willingness to have their cells available for research has helped us make all these new advancements. That’s a huge contribution,” he says.
Supports for patients and caregivers
Getting an AML diagnosis can be overwhelming and isolating. Groups like the LLSC and
During his journey, Shawn found tremendous support from the LLSC First Connection Peer Support Program. “Being able to speak to someone similar in age with the same diagnosis who had come out on the other side was really critical,” he says. Now that he’s on the other side himself, Shawn is paying it forward by becoming a First Connection Peer himself.
Most importantly, Shawn is thankful he took his wife’s advice and visited the doctor. “I tell everyone to go annually for a blood check. If I hadn’t gone, I don’t know whether I’d be here today,” he says.
This
Dr. Mark Minden Clinician Scientist, Princess Margaret Cancer Centre
Dr. Paul O'Connell Research Program Lead, LLSC
Jackie Manthorne President and CEO, CCSN
Shawn Omstead and his wife Janet Celebrating his 1st birthday post-transplant in Kauai
Why It's Important to Be Aware of This Rare Blood Disease
While rare, paroxysmal nocturnal hemoglobinuria can be fatal if not treated. That’s why awareness is so important.
Zach Cressman, 20, is an aviation student living in Southwestern Ontario.
One day in February 2015, at age 12, he was sent home from school after taking part in a physical education test. “I had scored half of what I usually did and my phys-ed teacher was worried,” recalls Zach.
His family took him to the doctor, who ordered blood work. Later that evening, the family doctor called, urging Zach’s parents to take him to the hospital immediately. There, Zach received several transfusions before being sent the next day to London Health Sciences Centre (LHSC) in London, Ont., for further testing. The diagnosis was aplastic anemia (AA), an acquired bone marrow failure condition where blood cell production is significantly reduced. Zach spent a year at LHSC for treatment until his condition stabilized, returning every six months afterwards for monitoring. On one of those follow-up visits, doctors discovered that Zach had paroxysmal nocturnal hemoglobinuria (PNH).
An abnormality of blood stem cells
PNH is an acquired genetic abnormality of the blood stem cells. “PNH occurs when a mutation develops in some of these stem cells and causes the subsequent blood cells produced to lose their protection against a part of our immune system called complement,” says Dr. Chris Patriquin, a hematologist and Clinician Investigator at the University Health Network and Assistant Professor of Medicine at the University of Toronto.
Though the median age of diagnosis is around 40, PNH can occur in people of any age, including those as young as Zach. “There’s a close association between AA and PNH,
but many patients with AA have a small bone marrow clone that typically doesn’t require any treatment other than monitoring to make sure there’s no progression to full, active hemolytic PNH,” says Dr. Patriquin. This was fortunately the case with Zach. However, patients with large clone PNH run the risk of developing thrombosis and severe and potentially fatal blood clots throughout the body if not diagnosed and treated.
Recognizing the signs and symptoms
Getting a PNH diagnosis is challenging, however, not only because it’s such a rare disease, but also because many early warning symptoms such as chronic fatigue, easy bruising and bleeding, shortness of breath (especially after exertion), and abdominal pain can be linked to other diseases. “One of the more telling symptoms is dark urine, often occurring first thing in the morning. This is reflective of the ongoing blood cell breakdown,” says Dr. Patriquin.
Diagnosis is made through a simple test on the patient’s blood called flow cytometry. “This tells us the percentage of cells circulating that are missing those protective mechanisms on the outside of the cell,” says Dr. Patriquin.
living with PNH can live full and productive lives. And with new therapies in late-stage clinical trial development or recently approved, the prognosis is even more positive.
Having information on how to manage their disease and what the latest treatments are, and someone to talk to about their concerns is very critical for these patients.
“The core treatment strategy is to control the complement system with complement blockers to prevent further blood cell breakdown.”
Resources and support available With targeted treatment, people
There are also patient supports available. One is the Aplastic Anemia and Myelodysplasia Association of Canada (AAMAC).
The AAMAC supports people with bone marrow diseases, including PNH, through online support groups, print and online resources, and oneon-one peer support.
“We encourage them to reach out to us,” says Cindy Anthony, Executive Director of the AAMAC. “Having information on how to manage their disease and what the latest treatments are, and someone to talk to about their concerns is very critical for these patients.”
Talk to your doctor if you notice the symptoms described or learn more by visiting
Anne Papmehl
Dr. Chris Patriquin Hematologist, Clinician Investigator, University Health Network & Assistant Professor of Medicine, University of Toronto
Cindy Anthony Executive Director, AAMAC
Zach Cressman
One Patient's Guide to Understanding and Navigating the CLL Journey
Every Chronic Lymphocytic Leukemia (CLL) journey may be unique but leaning on trusted resources and a strong support network remain critical to navigating the complexities of a diagnosis.
Margaret Barber was just 63 when she was diagnosed with Chronic Lymphocytic Leukemia (CLL). “I’d been athletic my whole life,” she says. She knew something was wrong, however, when she started experiencing frequent illnesses, nausea, and stomach issues: “My immune system just disappeared.” Thinking it could be the start of a gluten intolerance, Margaret visited her GP for routine bloodwork. The results came as a shock to the entire family.
“Our lives fundamentally changed that day,” says Scott Russell, Margaret’s husband, “I walked into the doctor’s office with one life plan, and I walked out with a different one; not worse, but different.”
Understanding CLL
Over 150,000 Canadians are affected by blood cancer with someone diagnosed every 24 minutes. Chronic Lymphocytic Leukemia is a type of blood cancer manifesting in white blood cells called lymphocytes, which create antibodies and are an integral part of the immune system.
Raymond Vles, Board Chair of CLL Canada and CLL patient himself explains, “For those with CLL, cancerous lymphocyte cells multiply in bone marrow, blood, and lymph nodes. They don’t act effectively within the immune system. As the disease progresses, these cancerous cells crowd out other important elements that are needed in blood.”
Often referred to as a ‘slowly
evolving disease’, one of the hallmark components of CLL is a ‘watchful waiting’ period; a duration of time where the disease is tracked and monitored until treatment becomes unavoidable.
People diagnosed with CLL are commonly over the age of 50, with the risk of developing CLL increasing with age. Those with a family history or of Russian/European descent are at a slightly heightened risk, as are men. Thankfully, Raymond notes that, since 2014, several new treatments have become available and have been shown to produce lasting remissions.
A rabbit hole
“CLL is like a slow fall down a rabbit hole,” Margaret explains, “It may sound like six years of waiting, but a lot happens over that time.” After having completed six months of chemotherapy treatments in February, Margaret is now three weeks out from completing the last part of her treatment protocol: “For so long our normal has been living with the disease during watchful waiting or treatment. Now we find out what it’s like when neither factor is in play.”
family. For Margaret’s daughter Celeigh, who was 27 when her mother was diagnosed, accessing mental health resources greatly expanded her capacity to support the family. “Any care you provide for loved ones will have a much stronger impact if you've been processing your own emotions with a professional.” A counselling therapist herself, she coordinated a variety of mindful, creative activities for the family to help them release stress, express their feelings, and build meaningful moments together.
People don't catch this in time. It's a simple blood test. Go get it done.
“CLL is a disease you can manage even though there is no cure,” Raymond emphasizes. As such, it’s important to seek credible resources and not hesitate to ask questions of your healthcare team. Every journey is unique and CLL Canada’s website hosts a comprehensive collection of information resources, organized by stage in the CLL journey.
For those who are concerned something feels off, Margaret says it best: “People don’t catch this in time. It’s a simple blood test. Go get it done.”
CLL is a journey — one that impacts both the patient and their
For more information on all stages of the CLL journey and life after diagnosis, visit CLL Canada at cllcanada.org
Sonya Friesen
Raymond Vles Board Chair, CLL Canada
Margaret Barber & family