5 takeaways:

➀ Avoid horror stories. Reporters on the lookout for the unusual need to be careful when writing about patients with rare diseases, said Rebecca Stewart, CEO of the U.K.-based RARE Revolution Magazine. The field is filled with stories and headlines about a “bizarre condition,” a “ZOMBIE” or a “horror ordeal” that patient advocates want to avoid. While patients do want to call attention to their disease as a way to get the research community to notice, they also don’t want to be singled out purely for being unusual or different.

➁ Use person-centered language. Stewart offered suggestions on terms to use and avoid when writing about rare diseases. She cautioned against defining people by their disease. “We have this tendency to make the disease all that they are,” Stewart said. Instead of labeling a patient as an “albino,” for example, call them a “person with albinism,” she said.  Don’t refer to somebody be being “wheelchair-bound,” and don’t refer to somebody as a “victim.”

➂ The rare story is actually very common. Daniel Lewi and his family were told there was little they could do when his daughter Amélie was diagnosed with Tay-Sachs, a genetic condition that affects one in 320,000 children. The patient’s average life span is five years. “This is the disease. This is the prognosis. Go home and spend time with your child. It’s going to be a terrible few years before she dies,” he was told. “We couldn’t believe there was nothing in place to actually manage what you were going through as a family.” They were also told, “You won’t meet another family with a child affected by Tay-Sachs.” Wrong. Lewi has met families from around the world who are dealing with Tay-Sachs. It is common for families dealing with rare diseases to be told they are alone, later to discover an international network of others.

➃ Patient advocacy has spurred research and treatment gains. Through social media and other methods, patient groups have proliferated, banding together to raise money and spur research. Lewi founded a U.K. organization to boost research for Tay-Sachs and Sandhoff diseases, which had been deemed too obscure to spark research or drug development. “I can’t tell you the pain when they told us, ‘It’s just a bit too rare for our research,’” he said. His group launched a patient registry to show the drug industry there was a viable market of patients. Now, clinical trials of two gene therapies are underway. “All we want to do is give people hope,” he said. “We had no hope when Amélie was diagnosed. … Families now have a light at the end of the tunnel.”

➄ Reporters exploring diseases should reach out to patient advocacy groups. Lewi’s singular quest is instructive since it shows how rare disease patients scattered across the globe can attract attention to their cause by banding together to speak with a unified voice. For journalists, patient advocacy groups can provide introductions to people dealing with almost any disease. But patient advocacy groups may be wary of introducing patients if they sense the reporter won’t show the proper sensitivity – and many have no experience dealing with the media, Stewart said.

Speakers: 

Daniel Lewi, Chief Executive, The CATS Foundation

Rebecca Stewart, CEO, NRG Collective Ltd./RARE Revolution Magazine

This program was funded by Fondation Ipsen. NPF is solely responsible for the content.