Rare Disease Day

Today, the last day in February, is Rare Disease Day when the world pauses for a moment to focus on often overlooked diseases that affect relatively few people but in such a devastating way. Among rare diseases Duchenne muscular dystrophy is actually quite rare because it affects less than 20,000 boys in the U.S.

For those of us whose lives have been touched by Duchenne, we are grateful to bring the attention to our cause and use this day as a chance to educate people about how those batting rare diseases are making great strides for the medical industry as a whole.

Tackling a rare disease takes an equally extraordinary approach. Here at CureDuchenne, we’re leveraging the strengths of venture philanthropy model to provide funding for new treatments. With this approach CureDuchenne is able to extend the impact of funds raised by investing in technologies and potential treatments that can improve patient lives.  Over the past ten years, Duchenne research has far exceeded that of many other diseases, and others are modeling the approach we take.

Many rare diseases, Duchenne included, start with one or two physical issues, and these create a cascade of problems for the patient. For those with Duchenne, the challenge of ongoing muscle deterioration includes the heart, our most important muscle.  This is one of the reasons CureDuchenne is focused on promising treatments and modalities for the whole patient. In order for Duchenne to become a chronic disease, rather than a fatal one, an array of medications will be needed to lessen the symptoms and provide a higher quality of life for patients.

The road to reach this destination isn’t an easy one. This past year, a groundbreaking pharmaceutical treatment failed to win FDA support, and another is awaiting review.  Patients, parents and physicians saw improvement, but the FDA saw things differently. We knew this would be challenging and we are not daunted by the setback.

Today we are grateful for the world’s attention on rare diseases like Duchenne, and are proud to show the world what we are doing to take one more rare disease off the list.