Every year on the last day of February, organizations in more than 80 countries around the world participate in the annual advocacy event, Rare Disease Day. The event raises awareness about the impact of rare diseases on patient’s lives.
Also known as orphan disorders, rare diseases are generally defined as those that affect less than one in 2,000 people. While each of these disorders affects relatively few individuals compared to more common diseases such as diabetes, medical science has recognized more than 7,000, of which about 80% have genetic components. Collectively, their impact is enormous, afflicting one in 12 Canadians.
For these patients, even getting a diagnosis can be very difficult, and unknowns around their condition may create a lot of emotional distress for them and their families. In about two-thirds of cases, symptoms appear in infancy or childhood so parents of these young children can end up coping with immense daily stress.
Despite this immense impact, some rare diseases, because they are lesser known, do not get the research funding more common diseases receive. As a result, there may be no treatments available. When treatments do exist, they are often extremely costly.
Support, close to home
Pharmacists can provide crucial front-line support for these patients and their families, delivering expert care and support at convenient times of the day and without an appointment. Generally less time constrained than physicians, pharmacists have more opportunities to get to know and understand the culture and background of the patient and their family, along with the progress of their diseases, in order to provide effective, individualized advice.
The pharmacist may be able to help optimize health outcomes and reduce stress by:
Giving the patient and their caregivers the information needed to fully understand the potential benefits and side effects of treatments. In some cases, for example, patients may feel better immediately, but in others, they may feel more or less the same while the medication prolongs their life by delaying complications.
Advocating on the patient’s behalf. The high costs of rare disease medications can be an insurmountable financial burden for some families, but the pharmacist may be able to help identify provincial programs that provide coverage or collaborate with the patient’s physician to request private drug plan funding or subsidization from the drug manufacturer.
Providing advice on symptom management. If complications make it difficult to eat an adequate amount of nutrients, for example, the pharmacist may recommend appropriate vitamin supplements and/or suggest a referral to a dietician.
Making referrals to community care programs or health professionals, providing a lifeline for busy families with little time to do this kind of research on their own.
Along the way, the pharmacist can provide tailored advice about avoiding drug interactions and how to take medications and supplements to optimize their benefits. Convenient services such as Express Scripts Canada’s Active Pharmacy—which ships medication to the home by mail so the patient never runs out and doesn’t have to make those extra trips to the pharmacy—can also ease the time stress experienced by these families.
Rare Disease Day is designed to raise awareness about rare diseases and their impact. On February 28, we hope you’ll join us in supporting those living with these disorders. Visit the Canadian Organization for Rare Disorders to learn more and tweet using the hashtag #raredisease.