Orphan disease adopted
The heart-wrenching quest to save 16-year-old India BuxtonTaylor, a Wakefield-area girl with a grave and mysterious neurological condition, hit the news last week.
After an active and healthy childhood, India now suffers from almost constant seizures. She has a disease so rare that she is probably one of only a handful of people in the world who has it. Last January, after six years of decline, India’s parents, Mark Taylor and Leslie Buxton, were told that their daughter would be dead within 700 days.
India’s story is riveting. As her neurologist Dr. Erick Sell pointed out, her parents’ race against time was like the 1992 film Lorenzo’s Oil, which told the story of a boy with a rare neurological disorder and his parents’ determined search for a one-of-a-kind cure for their one-of-a-kind child.
“Orphan” diseases — those rare illnesses that are often hard to diagnose and difficult to treat because there is little or no market for treatments — don’t have major foundations behind them. But you probably know someone with an orphan disease. Add them all together, and they affect one in 12 Canadians. Their stories, like India’s, are about a handful of people working against the clock and the odds. They are compelling because they are not just about medical discovery, but the human spirit.
Researchers at a lab at the University of Ottawa are in a race to unlock the puzzle. By a twist of fate, India’s uncle is friends with Dr. Steffany Bennett, a neuroscientist who heads the lab where groundbreaking work is underway on lipid metabolism in the brain and its link to Alzheimer’s disease.
India’s parents set up a website, onestrong.org, to raise money. They asked people to spread the message around the world. By last Thursday, the social networking about Buxton-Taylors’ efforts had reached a tipping point, attracting nationwide media attention and over $18,500 in donations to onestrong.org.
It may be too late for India, but this research can go on to help others, says Lesley Buxton. The story of one girl and her family’s search to find a cure has lifted us all.