Recognizing the Rare: Wishes Prescribe Possibility

“When you hear hoofbeats, think horses, not zebras.”

For decades, this saying has been taught in medical schools as a reminder to consider common conditions before rare ones. Coined in the 1940s by Dr. Theodore Woodward, the saying encourages clinicians to focus first on the most likely diagnosis rather than searching at great length for low-probability causes.

It is generally sound advice, as the most likely diagnosis is usually correct. But for families living with rare diseases, assuming the common cause can delay treatment, answers, and support. In these cases, the hoofbeats belong to zebras.

In the rare disease community, the zebra has become a symbol of awareness and advocacy. Just as no two zebras share the same stripes, no two rare diseases are exactly alike. The zebra represents the need to look beyond the usual, recognize the rare, and to ensure timely diagnosis, care, and support for those often overlooked, according to the Canadian Rare Disease Network.

What is a Rare Disease?

A rare disease is defined as a condition affecting fewer than one in 2,000 people over their lifetime, according to the Canadian Organization for Rare Disorders (CORD). Individually, these conditions may be uncommon, but collectively, they are not.

There are more than 7,000 known rare diseases, with dozens more identified each year. Together, they are estimated to affect one in 12 people in Canada — more than three million Canadians. About two-thirds of those affected are children, CORD reports.

Rare Disease Day, observed annually on the last day in February, shines a light on these conditions and the families navigating them. It also calls attention to the systemic challenges that come with being rare in a health-care system built to treat the common.

The Diagnostic Odyssey

One of the most significant challenges facing children with rare diseases is what is often called the “diagnostic odyssey.”

Because rare diseases are unfamiliar to many health-care providers, patients may be referred to multiple specialists across different disciplines, often receiving conflicting opinions or misdiagnoses along the way. Appointments may be spread across regions, with little coordination between services and the process can take years, according to the National Health Service (NHS) UK.

During this time, symptoms may worsen without relief. Families may experience dismissal or doubt, compounding feelings of isolation, fear, and stress. The emotional toll can be profound, affecting mental health, education, careers, and family relationships. Financial pressures often follow, as specialized care, travel, and unpaid time away from work add up.

Even when a diagnosis is confirmed, many rare diseases have limited treatment options. Small patient populations can make research, drug development, and clinical trials more difficult. In Canada, only 60% of treatments for rare disorders reach the country, often up to six years later than in the USA and Europe, reports CORD. For families, this often means learning to manage a lifelong condition without a clear cure, relying instead on symptom management, supportive care, and resilience.

When There is No Cure, Possibility Matters Most

For many rare diseases, there is no cure. As a result, improving quality of life is as critical as extending life expectancy, according to the Canadian Rare Disease Network. When cures are not available, holistic care — addressing physical, emotional and psychosocial needs — becomes essential. For families navigating childhood rare disease, hope can feel scarce, and creating moments of possibility becomes more important than ever.

At Make-A-Wish^® Canada, we know Wishes Are Medicine. They are a proven intervention that can offer measurable health benefits for children with critical and rare illnesses. Research shows that a wish can reduce stress and anxiety, strengthen a child’s ability to cope with pain, and even lead to fewer emergency room visits.

When you help fill a wish prescription for a family facing childhood rare disease, you’re prescribing possibility, allowing a child to feel stronger, to cope better with pain and stress, and finally giving parents access to a treatment that helps.

Today, 218 children in Canada with a rare disease are waiting for their wish. Each child is navigating a unique and often complex journey, while their families are still seeking moments of light and hope.