Medical Pioneers: Meet Erica Barnes, rare disease advocate

“I have a vision of a world where every single child with a rare disease has a treatment option," said Erica Barnes, founder of Chloe's Fight Rare Disease Foundation. Erica, an emerging powerhouse in rare disease advocacy, came to the field as many do: unintentionally, through a “life interrupted" by a diagnosis.

In 2010, Erica and her husband, Philip, noticed their daughter, Chloe, was not reaching developmental milestones at the same time her big sister had. Erica, a speech pathologist with a background in rehabilitation therapy, knew something was not right. When her pediatrician dismissed her concerns, Erica sought a second opinion and demanded an MRI. The test confirmed Erica's suspicions and led to a diagnosis for Chloe: Metachromatic Leukodystrophy (MLD), a rare, fatal lysosomal storage disorder.

“You go from the nightmare of not knowing what's wrong to the relief of finding out ‘Oh, they figured out what's wrong,' to the nightmare of ‘and there's nothing we can do for you,'" she said. Thanks to Erica's keen eye and swift action, Chloe's story is unique among many individuals diagnosed with a rare disease, as she was never misdiagnosed. According to Erica, most individuals with rare diseases have two or three diagnoses before arriving at the correct one.

Receiving a diagnosis quickly gave the family the chance to try a treatment to slow the progression of the disease. Chloe underwent a bone marrow transplant at the Mayo Clinic, a short drive from their family home in the suburbs of Minneapolis. A few weeks after the transplant, Chloe passed away from complications related to the procedure. She was two years old.

After this tragedy, Erica channeled her feelings into action. Four years after her daughter's death, Erica founded Chloe's Fight Rare Disease Foundation, which aims to create a world in which every child diagnosed with a rare genetic disease has a cure. The organization works toward that aim by raising funds for medical research at the University of Minnesota. Erica and Philip's energy and determination caught the attention of researchers in the university's medical school, including its new dean, Dr. Jakub Tolar.

“I was easily pulled into the gravitational field of Erica and Philip's minds," said Dr. Tolar. “And I have always been deeply grateful for the grace of their feelings and thoughts as they put them into practical use."

Most recently, Erica and her collaborators at the University of Minnesota and NORD (National Organization of Rare Disorders) have taken their fight to the political arena. Minnesota State Representative Matt Dean, whose wife lost two siblings to MLD, partnered with the team to author a bill establishing the Chloe Barnes Rare Disease Advisory Council, which made Minnesota one of only a handful of states in the US to sponsor an advisory council for rare diseases.

One challenge they directly address is the simple act of surviving day-to-day. With discussions at the national level indicating potential cuts to Medicaid and changes to the Orphan Drug Act, the opportunity to have the voices of individuals living with a rare disease and their caregivers heard has never been more critical.

“Because there are no real treatment options in the rare disease community, we need a social safety net," said Erica. “These cuts would be devastating. [However], in life, there is always hope," she said. “We are going to go step-by-step [...] and we are going to try to find cures for kids." Visit chloesfight.org to learn more about Chloe's Fight Rare Disease Foundation and to get involved.