CHLOE BARNES WAS A HAPPY, chubby baby with golden curls and a ready giggle. But when the Hopkins, Minnesota, toddler was 14 months old, her mother, Erica Barnes, started worrying about her development. “I began noticing subtle symptoms like her trunk stability and her gait seemed off,” remembers Barnes.

Because her husband, Philip, and their pediatrician didn’t share her concerns, Barnes tried to discount them—until a visit to Chloe’s French grandmother when the girl was 22 months. “My mother-in-law noticed it too,” says Barnes, “and that’s when we got serious.”

At Minneapolis Children’s Hospital just four weeks later (fast for rare diseases, says Barnes, which often take years to diagnose), Chloe was diagnosed with Metachromatic Leukodystrophy (MLD), a rare genetic, degenerative, neurometabolic disorder. MLD is progressive and has no known cure.

Chloe’s only hope was to have a bone marrow transplant, which she underwent in the fall of 2010 at the Mayo Clinic. Sadly, she died of complications from the transplant just two weeks later, at 27 months.

After that tragedy, her mother was moved to start the nonprofit Chloe’s Fight Rare Disease Foundation. A few years later, Barnes also began lobbying Minnesota legislators to fund a rare disease council based in the state.

That dream finally came true in May, when the legislature agreed to fund—for $150,000 a year for four years—a Rare Disease Advisory Council, to be housed at the University of Minnesota.

“I thought, instead of putting the onus on families” to start a foundation for every disease out there, “let’s have a single council that can work across rare diseases, and serve as a clearinghouse for clinical trials, natural histories, and FDA drug approval,” Barnes says.

In the United States, rare diseases are defined as those that affect fewer than 200,000 people. Some are what the medical community would call “ultra-rare,” meaning they affect just a few dozen or hundreds of people. However, other better-known health conditions such as multiple sclerosis or ALS (commonly known as Lou Gehrig’s disease) are also considered rare, a fact that surprises many laypeople.

Altogether there are roughly 7,000 rare diseases in the United States, says pharmacy professor Jim Cloyd, who holds the Weaver Endowed Chair in Orphan Drug Development at the U’s College of Pharmacy. As
scientists make advances in understanding diseases, they “narrow down and define more and more conditions, thus leading to more diseases that qualify as rare.” Up to 1 in 10 Americans now suffers from some kind of rare condition, he adds.

The legislature has asked the Council to start its work quickly. The first task will be to choose a staff member to administer the council; the second to name 24 advisory council members, drawn from the research, patient, industry, health insurance, and genetic counseling sectors.

Although the council’s specific physical home has yet to be determined, having it based at the U of M is meaningful, says Barnes. “I love that the U of M is a land grant institution,” she says. “Baked into that model—and the council’s—is an emphasis on the public good."