Chasing zebras: Guiding the fight against rare diseases

Chasing zebras: Guiding the fight against rare diseases
Feb 27, 2020
ICF genetic counselors help those with rare diseases find answers 

It’s hard to think of sickle cell anemia and spinal muscular atrophy as rare diseases. But they’re two of the 6,500 that ICF’s team of genetic counselors track for the Genetic and Rare Diseases (GARD) Information Center.

Michelle Snyder leads the team for our National Institute of Health (NIH) client. “I started as an information specialist, answering calls and emails about rare diseases.” Through the contact center and website, this ICF team helps 16 million patients and caregivers each year navigate the tangled web of challenges that come with a rare disease. Like where to find experts, clinical trials, and support organizations. “We also translate medical journal articles into plain language,” she adds.

"When people call GARD, they’re relieved to hear that they are not alone."

Michelle Snyder

The website itself sees 1.3 million users a month, and is often at the top of the Google search list for any given rare disease. “Our work has a direct impact on helping patients and caregivers get information they can trust—and understand!” People with rare diseases often feel isolated and misunderstood. GARD helps level the playing field. It takes a lot of compassion—and passion, both of which are deeply rooted in this team, and in ICF’s values overall. “Many times, a person’s general practitioner doesn’t know that much about their disease. We take pride in our ability to guide people through fact and fiction.”

Zebras are black and white, but diseases rarely are

Not so rare: 1 in 20 people will experience a rare disease at some point in their life.

It all comes together on Rare Disease Day, the last day of February (and this year, on the rarely seen February 29!). NIH’s National Center for Advancing Translational Sciences hosts one of 248 events around the world to raise awareness on rare diseases and their impact on patients’ lives. This ICF-coordinated event brings together patients, advocates, researchers, industry, and policymakers. “It’s exciting to meet and exchange information, in person, on how to advance research for rare diseases,” says Michelle.

It’s also the day to break out all your zebra print. “The zebra is the mascot for rare diseases,” she explains. It goes back to medical school, where students are taught that ‘When you hear hoofbeats, think horses not zebras.’ Meaning...look for a common diagnosis before considering something rare. “Of course, horses are not always the answer,” adds Michelle.

Another opportunity to help

Michelle's work on GARD does a lot to ease minds for those dealing with rare diseases. But she chooses to not stop there. “I’m part of an ICF team of volunteers who help feed residents of the NIH Children's Inn.” Families stay at the Inn while their children undergo clinical trial treatments at the NIH campus in Bethesda, MD. And about once a month, these ICF employees shop, cook, and serve dinner to anywhere from 40 to 70 people. “Many of the children have rare diseases, so it’s meaningful to support them with a home-cooked meal.” It starts with a theme...and ends with an evening of fun-filled memories. “Each time we serve, we’re overwhelmed with ‘thank yous’,” says fellow volunteer Linda Saucedo. “It’s a wonderful feeling.”

Learn more about ICF’s federal health work.

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