Julia Thompson will host an event today in the Pit to encourage people to participate in “65 Hours of Silence for Cystic Fibrosis,” a national social media campaign Wednesday. It asks participants to stay inactive on social media for 65 hours to show the lack of attention given to the disease.
“There’s lots of research for diabetes and heart disease — there’s a lot of research for diseases that affect lots of people,” said Dr. Marianna Henry, a UNC pulmonologist who treated Rachel Thompson. “There’s less focus and research that focuses on rare diseases.”
The rare disease
Cystic fibrosis is a life-threatening genetic disorder that causes the lungs to fill with mucus. About 30,000 people in the United States are living with cystic fibrosis, said Lisa Stewart, the logistics specialist for the Carolinas chapter of the Cystic Fibrosis Foundation.
Research into treatments or cures for the disease doesn’t get much government funding and instead relies on the national Cystic Fibrosis Foundation. Ninety-five percent of cystic fibrosis drugs have been developed with foundation money, Stewart said.
“We are basically the ones funding everything that is going on for these patients,” Stewart said, noting the foundation’s financial support for families.
“Because we’ve made so many advancements for our patients, 50 percent of (the) population (with cystic fibrosis) is 18 and above,” Stewart said. “Ten years ago, that wasn’t the case.”
Rachel Thompson received therapy at UNC, which houses one of the biggest cystic fibrosis research centers in the country. It serves about 550 patients from North Carolina and the region, said Dr. George Retsch-Bogart, co-director of UNC’s Cystic Fibrosis Therapeutics Development Center.
The most groundbreaking research might only help a portion of people diagnosed with cystic fibrosis — which could change soon. In 2012, Kalydeco, a drug for cystic fibrosis, was approved by the Food and Drug Administration, costing the foundation about $75 million.
“Unfortunately, there are thousands and thousands of different mutations of the CF gene,” Stewart said. “The Kalydeco only would help treat 4 percent of the CF population, but it was a breakthrough.”
But Doug Ornoff, a postdoctoral fellow who has cystic fibrosis and who works at UNC’s Cystic Fibrosis and Pulmonary Diseases Research and Treatment Center, said he is optimistic about the future of research. One emerging area of cystic fibrosis research has focused on specifying and personalizing treatment for the disease, which has more than 1,000 mutations, said Ornoff.
Pharmaceutical companies have ramped up their efforts in the hopes of treating the root cause of cystic fibrosis, Ornoff said.
“This is an exciting time,” he said. “They’re trying to correct the underlying defect.”
Julia saw her sister as the same as anyone — she didn’t act overly sweet or careful with Rachel, although some people did.
Rachel Thompson had intensive treatments three times a day, such as using an IV or a feeding tube. Julia Thompson said she grew up thinking every sister underwent those rituals. As children they referred to one treatment, which involves someone clapping the lung area to remove mucus, as “Happy Clappy Time.”
“It was normal for us,” Julia Thompson said.
Known as an academic and a poet, Rachel Thompson was also known for being silly and witty, Julia said.
“She could talk about ‘Family Guy’ or Edgar Allen Poe,” Julia Thompson said.
Henry said Rachel was one of the most inspiring patients she’s ever had.
“I never heard her say, ‘Well, I can’t do that.’ She always figured out a way to do it,” Henry said. “Her and her family were a model family — they modeled the type of problem-solving she would need. Her ability to do as well as she could, as long as she did, was all about dedication.”
Henry said people like Julia Thompson often spearhead the fundraising pushes for cystic fibrosis — grassroots research funding is rare for a disease.
Julia Thompson estimates that her family has raised $90,000 since her sister was diagnosed.
“Her family has been involved in fundraising since Rachel was a young child,” Henry said.
“It’s not surprising that she’s doing it, but it is surprising she’s doing it after two or three months (attending UNC), most of us are getting our feet on our ground — but she’s out there doing something remarkable, like Rachel would do.”