Karen Aiach was working as a management consultant when she learned that her first daughter, Ornella, had Sanfilippo syndrome, a rare disease in which a missing enzyme causes toxic substances to build up in the body.
Ornella was 6 months old, and the prognosis was grim: She would develop mentally and physically to between ages 2 and 4, plateau and then lose whatever she had learned. She would become extremely hyperactive and develop sleeping disorders. Most likely she would not live past 15.
Within two years of the diagnosis, Ms. Aiach, who lives in a Paris suburb, had quit her consulting job to learn everything she could about the disease. She hired a neurobiologist to guide her in the world of medical research. And when she learned that few treatments were in the works, she founded a company called Lysogene to focus on genetic therapy.
Instead of raising money and awareness by setting up a nonprofit foundation, a more typical route, she opted to start a for-profit company to seek treatments, if not a cure. Far from common, what Ms. Aiach and other parents like her are trying is to leverage their wealth, contacts and the hope of sophisticated investors to jump-start research into rare diseases.
“My goal was to find a therapeutic approach to that disease,” she said.
Such investments can run in the hundreds of millions of dollars; researching and marketing lifesaving drugs can cost billions. And even with their abundance of dedication, many parents start with little knowledge of the science behind the causes of the diseases that plague their children.
But with some rare diseases, where minimal research has been done, a little effort goes a long way.
Nicole Boice, who founded Global Genes, one of the leading rare-disease patient advocacy organizations, said even small investments can have meaningful impacts.
“You can start moving the needle with $3,500,” she said. “That leads you to the next $25,000, and then to innovation grants and funding at $100,000. That starts the interest from biotech.”
Gradually, parents like Matt Wilsey, a technology entrepreneur, have made headway. First, his family spent the better part of four years trying to figure out what afflicted his daughter, Grace, now 6. Even after her genome was sequenced, the first diagnosis turned out to be wrong. Grace, it finally was determined, was the second person in the world known to have a deficiency in the gene known as NGLY1.
“We went around the country,” Mr. Wilsey said. “We were just trying to find one doctor who had seen another patient with these symptoms.” After years of efforts, several dozen children have been found to have the same deficiency.