"If we're successful we can halt the progression and buy us some more time. We're not going to give up on our kids."
Chris Edwards '97 was shattered to learn in May 2016 that his daughter had an ultra-rare genetic disorder with no known treatment options. Robbie, 3, is one of 14 children worldwide to be diagnosed with hereditary spastic paraplegia type 47 (SPG47), which inhibits her ability to walk and talk and will likely continue to diminish her motor skills over time.
Although literature is sparse on this type of SPG (there are more than 70 different types of hereditary spastic paraplegia), Edwards and his wife, Kasey, dove into all the research they could find on the disorder and others like it. Within months, they reached out to scientists who had conducted the studies and assembled a network of experts to help them discover ways to stop the progression of Robbie's disorder.
Among the experts the couple contacted was Kira Apse Dies '98, a genetic counselor at Boston Children's Hospital. Robbie had been a patient at Children's, but Edwards hadn't crossed paths with Dies until reconnected by a mutual friend, Scott Decker '97. "I knew she was smart, and I knew she was someone I could trust to get advice from," Edwards says of Dies.
The Edwardses and other families affected by the disease set up a nonprofit, Cure SPG47, to organize efforts, do research and raise funds. They named Dies, who leads the neurogenetics clinic at Boston Children's, to the board of directors. Dies helped expand the network of researchers and arrange a medical advisory board meeting in March, bringing together the families and expert minds in the field to discuss a drug screening project at Boston Children's and gene therapy research that they hope could lead to potential breakthroughs.
"Chris and his wife are really leading the push on the foundation and the science," says Dies. "They're just not willing to accept that there are no treatment options. They're incredible people."
"The reality is the clock is ticking for us," Edwards says. "If we're successful we can halt the progression and buy us some more time. We're not going to give up on our kids."
For more information on CURE SPG47, please visit curespg47.org.