The call for help came out of the blue in 2010 when one mother living in Texas suddenly telephoned another mother living in Northern Virginia. The two women were strangers, but shared a common bond. Both are the parents of children diagnosed with Phelan-McDermid syndrome, a rare, genetic disorder known to cause developmental delays, impaired speech, seizures, and intellectual disabilities.
Geraldine Bliss, a rare disease advocate with the Phelan-McDermid Syndrome Foundation (http://22q13.org/j15/) in Houston and mother to Charles, then 9, was on the hunt for someone to attend a Washington, D.C. conference—a boot camp of sorts—on how to create a rare disease registry. Megan O’Boyle, at the time a stressed-out working professional, mother to then 10-year-old Shannon, and one of the only candidates living near the nation’s capital, fit the bill.
“I did not want to do it,” said Megan. “I didn’t know much about the disease. I had no background in science, no background in medicine, and no background in research. I wasn’t even a volunteer with an advocacy group. But Geraldine convinced me, and I figured: how hard could it be?”
Megan, now the principal investigator for the Phelan McDermid Syndrome International Registry, is not one to mince words. She described some of the more difficult tasks required to establish a registry as “worse than childbirth.”
“The moral to the story?” she asked. “My naivety paid off. If I knew then what I know now, I would have said, ‘this is impossible.’ But I was driven as a parent who thinks nothing is impossible.”
This toolkit is designed to help rare disease patients, advocates and advocacy organizations understand and navigate the trials and tribulations of creating a rare disease registry. By all accounts it is a difficult, complicated, sometimes tedious, frequently time consuming, and often an expensive endeavor.
While establishing a registry is challenging, at the same time, medical researchers believe it is through the growing network of patients identified and tracked by disease registries that scientists may one day develop a drug or medical device to treat any one of the roughly 7,000 already identified rare diseases and disorders, a number that continues to grow.