On Saturday, more than 400 individual runners and 55 two-person relay teams are expected to compete in the 19th Martha’s Vineyard 20 Miler road race to benefit the Martha’s Vineyard Boys and Girls Club and a host of other Island youth organizations.
While some of the competitors will be seeking personal athletic glory, Laura King Edwards will not. She will be running for her sister and the approximately 30 million Americans suffering from often-fatal rare diseases.
While Laura pounds the cold Island racecourse, her sister Taylor King, 17, will be at home in Charlotte, N.C., battling Batten disease, an inherited neurodegenerative disease that primarily strikes infants, toddlers, and school-age children. With no known cure, Batten disease is always fatal. Batten is one of a number of illnesses officially termed rare diseases because they affect fewer than 200,000 persons in this country.
Ms. Edwards, 34, is looking forward to her first trip to the Island because it will provide an opportunity to meet geneticist and author Ricki Lewis, a seasonal Vineyard Haven resident and a key ally in the family’s fight to save Taylor and the millions of rare disease sufferers.
“My husband John and I are excited to meet Ricki,” Ms. Edwards said from her home in Charlotte last week. “We’ve had a four-year relationship. She wrote a book called ‘The Forever Fix’ about gene therapy, and it connected all the dots for us.”
“The Forever Fix: Gene Therapy and the Boy Who Saved It” (St. Martin’s Press) chronicles the history and recent explosion of success in this biotechnology, through the eyes of the families and researchers who have made it happen.
Their family story, like millions of others, is a story of love, courage, and the struggle of people who are outside the conventional medical research and therapeutic community — families who are bootstrapping their way to cures for their loved ones and others in the rare disease community.
Ricki Lewis holds a Ph.D. in genetics. A science writer, her work has appeared in a number of publications, including the Journal of the American Medical Association (JAMA), Lancet Oncology, Reuters, and most frequently, Medscape Medical News.
As Ms. Lewis explained in a telephone call, it’s a numbers game. Though rare diseases affect one in 10 Americans cumulatively, rates far greater than cancer or heart disease, the hundreds of individual rare diseases do not attract pharmaceutical companies or the medical community to find cures.
“Rare diseases used to be called ‘orphan’ diseases,” she said. “The reason people should be interested is that rare diseases could affect them.”
She said that new organizations, such as the National Organization for Rare Disorders and the National Institute of Health’s Undiagnosed Diseases Network are scrambling to provide systems, research, and treatment protocols.
The key is gene therapy, Ms. Lewis said: “Gene therapy can be extrapolated from one condition, such as Batten’s, to others. For example, the research on Batten can be used in other diseases such as ALS, also known as Lou Gehrig’s disease,” she said.
Meanwhile, sufferers and their families are, essentially, raising awareness and research money by themselves to help their loved ones.
“Their stories are amazing,” Ms. Lewis said. “They accomplish incredible things. Hannah, an 11-year-old little girl we knew, has a similar illness to Taylor. Hannah loves the Vineyard. She comes to visit us for a couple of weeks every summer. Her family has raised $6 million dollars for research by themselves.”
Clinical trials can take 5 to 15 years to complete, and although they are being fast-tracked, may not be completed in time to help the Taylors and Hannahs of the rare disease community.
“But they will help others. It gives meaning to their lives,” she said. “They are heartbreaking stories. Laura is a great writer, and her blog, Write the Happy Ending, has a post called ‘Between Haircuts.’ It reports on the degenerative nature of Taylor’s illness in which she lost the ability to climb stairs in the few months between trips to get her haircut.”
In the meantime, Laura Edwards runs and runs. The Amity Island 20 Miler takes place in the 11th state in which she has run to raise money and awareness about rare diseases. Her goal is to run in all 50 states.
Taylor lost her vision in the fifth grade, but insisted on running a school-sponsored 5K race. “She ran it twice. Her courage and determination were an inspiration to me,” the former college athlete, now an Internet content writer, said.
The King sisters’ will to fight is likely inherited. “When Taylor was diagnosed, my mom came home with a box full of books on rare diseases, and read them all,” Ms. Edwards said.
On Saturday, Ms. Lewis will be at her house preparing some chicken soup for post-race nourishment as Ms. Edwards joins the crowd of runners, some of whom will be here to prepare for the upcoming Boston Marathon, to run for her sister and against time.
For more information, go to Taylor’s Tale, a nonprofit organization dedicated to building a better future for the rare disease community.