Myelodysplastic syndromes patient Clara De Abreu is part of the first-ever Canadian registry for patients like herself.
TORONTO-AREA RESIDENTS Clara De Abreu and Albert Love are not related, but they share a tie through their blood: they are just two of the thousands of Canadians living with myelodysplastic syndromes (MDS), a collection of stem cell disorders caused by poorly developing and dysfunctional blood cells. Each of them has decided not to let MDS get the better of them – no small feat considering the energy-sapping nature of this incurable disease. "I decided to turn my whole life around and just live for the day," says Clara, 69, a North York resident diagnosed with MDS in 2004.
With MDS, patients produce too little of one or more types of healthy blood cells in the bone marrow, requiring many to depend on regular blood transfusions to survive. MDS often becomes acute myeloid leukemia (AML), the most common type of acute leukemia in adults.
"You wake up in the morning and when the end of the day comes, you say, 'Thanks for today.'"
The two are participating in a first-ever Canadian MDS registry and research project spearheaded by Sunnybrook Drs. Rena Buckstein and Richard Wells, co-directors of the hospital's MDS Research Program. Because MDS is a disease that typically strikes older Canadians, Sunnybrook has partnered with geriatric specialists Dr. Ken Rockwood from Dalhousie University and Dr. Shabbir Alibhai from the University of Toronto, who have provided key input into the study's design.
In addition to more traditional disease-specific characteristics and prognostic factors, the national project is studying factors such as quality of life, frailty and concurrent illness among MDS patients. The objective is to develop a much better understanding of disease burden and prognosis in relation to overall and leukemia-free survival and quality of life. "We have representation from almost every province in Canada," says Dr. Buckstein. With her partners from across the country, she aims to enroll about 500 MDS patients. Already, Sunnybrook has enlisted more than 250 patients for the project, which has received seed funding from the Canadian Institutes of Health Research.
The project, which could present results in about three years, will help medical professionals interpret the relevance of new clinical trial results. It will also lend insight into MDS disease burden in Canada and how management and outcomes may vary from province to province. This knowledge is essential to guide cost-effective care, Dr. Buckstein notes.
For some patients, an MDS diagnosis is a death sentence carried out in just a few months. For others, the condition lingers for 10 years or more before another illness, or the burden of transfusions or transformation to AML, causes them to succumb. Knowing how to prognosticate between these extremes is crucial to patients, families and physicians, but remains a challenge, Dr. Buckstein says.
Clara and Albert each say they're taking part in the project because they want to help improve care for future MDS patients. "It will give the research team a better idea of how patients fare," Clara says, pointing to simple but very telling physical tests that participants complete. For some patients, participating in the project could also lead to improved care now, says
Dr. Buckstein, as all participants will be connected to MDS centres of excellence that practice the best, most up-to-date care for the disease and offer clinical trials.
Life with MDS has been difficult. "It started with headaches, and I thought it was migraines so I just ignored it for awhile," Clara says, recalling her first symptoms in the summer of 2003. Within a few weeks, she was having difficulty walking because of fatigue but continued working. Before switching her care to Sunnybrook in September 2004, a long series of blood and bone-marrow tests, imaging and hospital stays culminated in Clara's MDS diagnosis in early 2004. She has been receiving regular red blood cell transfusions (currently every three to four weeks) ever since. "Once I have my blood transfusion, I'm wiped out for that day," she says, adding she is also very tired the few days preceding transfusion.
Albert has had more than 90 transfusions since his diagnosis in March 2010, and had to be hospitalized due to transfusion complications and pneumonia. He recovered and went five months without a transfusion in the summer of 2011. Being transfusion-dependent is difficult for more than one reason. "It means your level of energy is always fluctuating," Dr. Buckstein points out, adding that patients must have frequent blood tests, which ties them to the laboratory and can make travel a challenge.
A consequence of blood transfusion is iron overload, adds Dr. Buckstein. "The body has no good way of getting rid of iron, and with time, iron will build up in important organs and eventually shorten life." To counter this, iron-chelating drugs such as Desferal and Exjade are prescribed.
However, Ontario's drug plan doesn't cover Exjade (a newer and much less-onerous treatment) for all MDS patients. Patients take Exjade tablets by dissolving them in water, whereas Desferal is delivered by injections lasting at least eight hours, five to seven days a week. Large welts and skin infections sometimes result.
"I could hardly sleep at night" while on Desferal, Clara says. Fortunately, her private insurance plan covers Exjade (as does Albert's).
Increased risk for infection, fever and heart problems are among the side-effects of MDS. "There is also the anxiety of developing acute leukemia," Dr. Buckstein says. Despite the challenges MDS poses, both Clara and Albert are living life to the fullest. Clara devotes time to her many hobbies – making stained glass, volunteering, cooking and going out with friends. "There are a lot of things that you have to give up," says Albert's wife, Katherine, who is deeply involved in her husband's care. But there is one thing the couple won't pass up: travel. The two still regularly fly south for quick trips to Caribbean islands.
Clara urges other people to be vigilant. "People should listen to their bodies, and for some reason if they feel something is wrong, do not hesitate and wait like I did."