Strength in numbers | the need to recognize rare diseases together

This past November, I had the privilege of attending an event to raise awareness of Progeria, a rare and fatal genetic disorder characterized by accelerated aging in children. In addition to viewing a powerful documentary, the evening featured a question and answer session with Sam Berns, who at the age of 17, passed away just weeks ago. Sam’s story is one of remarkable resilience and a determination to live his life to the fullest. Despite battling an insurmountable disease, this young man set goals and then exceeded them. The significance of Sam’s story is amplified by the actions of his parents, Dr. Leslie Gordon and Dr. Scott Berns, who channeled all of their energy, not only toward the care of their family, but also to starting the Progeria Research Foundation. Through the Foundation, their efforts, along with countless other families and friends, powered vital clinical research and drug development. The promise of the organization? “Together we will find the cure.”

Diseases like Progeria are rare. And for families affected by these disorders, their rarity only poses obstacles in the pursuit of diagnosis and potential treatment. Physicians can practice medicine an entire lifetime and not encounter a single case. Friends and family can be overwhelmed by a sense of helplessness. And ultimately those individuals living with a rare disease can succumb to the feeling of being completely alone.

It’s critical to remember, however, that people with rare diseases are, in fact, not alone. According to the National Organization for Rare Diseases (NORD) there are almost 7,000 diseases that are deemed rare (in that they affect fewer than 200,000 Americans). When looked at as a whole, there are 30 million Americans living with rare disorders and millions more from around the world. 30 million people who are waging individual battle. Each person with a different tale to tell. Each wanting to live a full and fulfilling life.

It is encouraging that we live in a time when there is an unprecedented level of research being conducted on possible treatments for rare diseases. The pharmaceutical and biotechnology industries have made significant investments that have resulted in groundbreaking treatments, including enzyme replacement therapy for diseases including Fabry, Gaucher, Mucopolysaccharidosis and Pompe. There are other treatment firsts for cystic fibrosis, multiple sclerosis and rare forms of cancer. And in this past year alone, not one, but two treatments approved for a rare genetic form of hypercholesterolemia. Today, there is more hope on the horizon than ever before. But there is so much more work to be done.

For the relatively few rare diseases that have dedicated treatments, there are far more with none. The great majority of treatments that do exist are not cures. They help fight the fight. But what seems insurmountable does not have to be. Sam Burns proved it by the way he lived his life. And the Progeria Research Foundation’s commitment to “together” finding a cure holds the key.

Pushing a boulder up a hill alone is a daunting task. But with others at your side, with the same level of passion and purpose, the summit can be reached. This February 28, 2014 marks the 6th annual Rare Disease Day. It’s a day where people from all over the world come together to recognize the individuals living with these debilitating disorders. Patient organizations, governments, researchers, hospitals, academic institutions, as well as pharmaceutical and biotechnology companies in more than 65 nations all play an active role in shining light on what too often is overlooked.

Rare Disease Day is an important opportunity. It challenges us to take action. To get on the field instead of rooting from the sidelines. To learn more about Rare Disease Day and how you and your organization can become involved, please visit the National Organization for Rare Diseases online at www.rarediseases.org.

Our collective effort is essential. And Rare Disease Day can be so much more than 24 hours of awareness building and recognition. It can be a catalyst for change. It can be a starting point. A place to jump in and make a difference, big or small.

Truth is, that there is strength in numbers. People living with rare disorders need us. And we need each other. The individuals we’ve met over the years are not insignificant data points or oddities. They are people wanting to live their lives not defined by a disease. They are inspirational. They have enriched our lives. And they so deserve our support. On February 28. And on all days.

by Jonathan D. Katz

02/05/2014