Breakthrough Patient Recruitment

: Rare Diseases Rarely Receive the Attention They Should—Let’s Change That

Rare Diseases Rarely Receive the Attention They Should—Let’s Change That

Managing Editor

According to, there are currently almost 17,000 clinical studies for heart disease, more than 10,000 studies for diabetes, almost 6,000 studies for breast cancer, and more than 4,000 studies for leukemia. For decades, we have been raising money for research for some of the world's most common diseases. And it worked (although there is still work to be done). Many people are living longer because of what we have learned from clinical studies of these diseases.

But there is another side to this story. lists just 316 clinical studies for osteosarcoma and only 19 studies for Lennox-Gastaut Syndrome (LSG), a rare and severe form of epilepsy.

According to the National Organization for Rare Disorders (NORD), there are approximately 7,000 rare diseases. For a disease to be considered rare, it must affect fewer than 20,000 people. NORD estimates that these 7,000 rare diseases affect nearly 30,000 million Americans. People with rare diseases often find themselves struggling to find treatment options because there are often few--if any--approved treatments. Because these diseases affect fewer people, they often also suffer from a lack of clinical research.

It is often difficult to justify spending critical and often limited research dollars on a study of an incredibly rare disease because the impact may be relatively small. But define impact to a parent of a child with osteosarcoma. Although osteosarcoma is the most common bone cancer in children, as far as cancers go, it is rare, affecting just 400 children younger than age 20 each year.

If you want to talk about impact, let's talk about Zach Sobiech, who passed away earlier this year after a four-year battle with osteosarcoma. Zach wrote a song called "Clouds" as a way to deal with dying, and in doing so, he moved so many of us--not just to tears but to action. The Zach Sobiech Osteosarcoma Fund at Children's Cancer Research Fund is bringing together a team of scientists to conduct a multi-phase clinical trial for osteosarcoma. All donations made to Zach's fund go directly to research.

On a more personal note, my great nephew, Justin, has LGS. At nearly 4 years old, Justin cannot communicate or follow simple commands. We don't know when he's feeling hurt, hungry, or sick. He can have as many as 30 seizures a day, and that's after taking up to eight medications to "control" the seizures. The seizures impact his ability to learn, and he suffers from significant intellectual delays. So many of the treatments and tests Justin has undergone are considered experimental, and there is simply not enough research done in LGS to know how to stop the seizures.

As frustrating as the lack of research is for families struggling with rare diseases, there have been some promising developments. The National Pediatric Research Network Act was signed into law in November. According to U.S. Sen. Sherrod Brown (D-OH), the National Institutes of Health (NIH) dedicates only about 5 percent of its annual extramural research budget to pediatric research. The Act will provide for the establishment of a National Pediatric Research Network, which will allow children's hospitals around the country to share data and conduct research into new treatments and possible cures for rare diseases.

NIH already has an Undiagnosed Diseases Program, which focuses on advancing medical knowledge about rare and common diseases. To learn more about this fascinating and elite program, check out this 60 minutes special from 2012.

So many people need our help, and clinical research can--and has--made a significant impact on the lives of so many. We must continue to be voices for kids like Zach and Justin with the hopes that every dollar raised toward research is one tiny step closer to finding answers and cures.

As health communicators, it's easy to talk about the well-known diseases that garner money and celebrity endorsements. But we must remain diligent in our work for all diseases and conditions-no matter how small the population. Because someone's life depends on it.

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