By Fred Little, Rare Disease Canada Lead, Pfizer Canada

Rare Disease Day may only happen once a year, though it offers us an opportunity to remind those living with rare diseases that they are never alone – myself and others at Pfizer are here to support them every step of the way, every day of the year.

While inherently uncommon, rare diseases collectively impact approximately 300 million people around the world – including the family and loved ones of the patients themselves: people like our Pfizer colleague, Kathleen.

In December of last year, Kathleen’s father received blood work and an electrocardiogram, which necessitated a trip to the hospital for further tests. At first, health care practitioners struggled to properly diagnose him until Kathleen – drawing on her skills as a nurse and her knowledge of her father – stepped in to assist, ultimately leading to a diagnosis of the rare disease, ATTR-CM.

Not everyone has that type of support – that’s where we, at Pfizer, can help. We aspire to enable rare disease innovation and pioneer transformative science; it’s been our mission for more than 30 years.

I’m so proud of the strides we’ve made and I’m excited to see the efforts we’re now making come to fruition. That’s why it’s so important to have a Rare Disease Framework that will ensure access to safe and effective therapies for patients with rare diseases.

Of course, this will take a shared effort, including collaboration with patient groups, continued investment in research and development, and improved access to medicine. Together, we can make a real, lasting, positive difference for patients, on Rare Disease Day and beyond.  

To learn more about the importance of a Rare Disease Framework, please visit the Canadian Organization for Rare Disorders or the Regroupement Québécois des maladies orphelines for Quebec.