The parents of India Buxton Taylor, 16 — suffering from the effects of a defective gene that doctors say could kill her in a year — say only a cure will make them happy. But they hope that if researchers can't find the answer in time, at least their daughter's case might one day help others.
India inherited two defects affecting one gene, one from her mother and one from her father, to create a rare neurodegenerative disease. Essentially, the defects prevent neural cells from processing and breaking down lipids, or fats.
The fats build up and build up, which eventually causes the cells to stop functioning properly.
- LISTEN | To hear the full interview with India's parents, which aired on Ottawa Morning, click here.
India's father, Mark Taylor, likens it to "having a house with a million frays in the electrical wiring" that keep multiplying; it gets progressively worse until the lights finally stop working.
There were no obvious signs that something was wrong until India was 10 years old. She sang all the time, climbed trees, loved to draw and play soccer, though she was sometimes prone to falling down, which her parents attributed to clumsiness.
Her mother, Lesley Buxton, was walking in the ByWard Market that year when India took an exceptionally hard fall.
"One day my sister and I were in the market and … it was as if someone took a hammer and hit India on the head, and she fell down straight on her face onto the pavement, and she cracked her tooth. And my sister and I looked at each other, and we knew," she said.
"We didn't know what it was, we were both terrified, but we knew something wasn't right."
It took six years to find out exactly what was wrong, and Buxton says not knowing was "torture." Another torture is remembering India before the disease took hold, she said.
"Grief isn't just after death," Buxton said. "Because I knew my daughter's potential, and I've seen what she can do, it's very very hard. She's very, very ill now, but until three years ago she still sang songs. And she would have bad days and good days, and I could see what kind of woman she was going to be.
"And I am very very proud of her, but I would like to see her be that woman."