Rare diseases are much more common than people think. The word “rare” is off-putting. But the word only pertains to each individual rare condition. Collectively, rare diseases are quite common.

In fact, in Canada, as a whole, they are one of the largest contributors to childhood morbidity and mortality. The health system has estimated that one out of every three hospital beds in pediatric centers is filled with those living with a rare condition.

The country estimates 1 out of every 40 children has a genetically inherited rare disease. Approximately half of all individuals born with a rare condition don’t make it to their adult years. This is why pediatric rare disease research is paramount.

Worldwide researchers have identified over 7,000 rare conditions. Each and every one is the result of some form of gene mutation. And most do not currently have an approved therapeutic option, let alone a cure.

Moving Toward Treatments

Discovery is only the first step. The steepest learning curve is uncovering effective treatments. Rare Disease Day on February 28th each year aims to bring awareness to the need for more research and better therapies for these conditions.

Human genome sequencing is one of the ways diagnosis can be accelerated. But in regard to therapies, 95% of the 2,000 different diseases don’t have an effective treatment. Some may have therapies which aid in symptom management or even which delay the onset of some symptoms. But ultimately the goal is to find curative therapies for each and every rare condition out there.

You can read more about the state of rare disease research and care in Canada here.

Despite not yet being where we want to be, there is a large team of dedicated researchers across the world, determined to find solutions. It will take collaboration, innovation, funding, and passion to change the outlook of every rare disease diagnosis.