Parents Start Nonprofits to Fuel Research on Rare Diseases

An increasing number of parents of children with rare diseases are bypassing traditional medical organizations and raising their own money to pay for research, according to the Chicago Tribune.

Thousands of dollars have been funneled to a few researchers at institutions, such as Northwestern university’s Feinberg School of Medicine, for work on conditions like giant axonal neuropathy, or GAN, a disease that interrupts nerve pathways leading to the muscles and has only about 30 known cases worldwide. Such diseases are so rare that there is little financial incentive for pharmaceutical or biotech companies to seek cures or treatments.

“These warrior moms are driving research and doing serious fundraising,” said Mary Dunkle, of the National Organization for Rare Disorders, told the Tribune. “They realize that if they don’t save their child, no one else is going to do it.”

Lori Sames, a Rexford, N.Y., woman with a daughter who suffers from GAN, found Hannah’s Hope Fund to support research into treatment for the disease. In 2011, the charity granted $50,000 to Robert Goldman, a Feinberg School researcher.

Dr. Goldman has been able to develop GAN antibodies, which are an important step in devising an eventual treatment. He hopes to start clinical trials on a new gene therapy in December, a move he says is “solely attributable” to the money raised by Ms. Sames and other parents of children with GAN.

Read a Chronicle article about the group FasterCures and grass-roots charities focused on rare-disease research.