Over 65 people gathered in person and via webcast at the UW Health Sciences Learning Center (HSLC) on Saturday, November 10, 2012, for the second Family Education Day for Cystic Fibrosis.
At the event, people with CF, and their families and friends, learned about legal considerations, new therapies, and coping strategies for the inherited disease.
They also found out more about a landmark new drug that’s changing the lives of a small subgroup of people with CF — and a new clinical trial that may offer hope for up to half of people with the disease.
CF Drug ‘Like Insulin for Diabetes’
The day kicked off with welcomes from Michael Rock, MD, director of the UW Cystic Fibrosis Center, and Mary Marcus, co-director of the UW Pediatric Pulmonary Center.
Beth Sufian, JD, director of the Cystic Fibrosis Foundation’s (CFF) Legal Information Hotline, provided an overview of what people with CF and their families need to know about Social Security, Medicare/Medicaid, and health insurance.
Dr. Rock then spoke about research advances for CF treatment, the highlight being ivacaftor (Kalydeco™), a new drug approved by the FDA in January 2012 to treat people age six and over who have the G551D mutation of CF.
Ivacaftor is the first drug to target the underlying cause of CF: a protein defect that prevents the proper flow of salt and fluids on the surface of the lungs. It restores the function of the defective protein, helping to thin the sticky mucus that builds up in the lungs of people with CF. Read the New England Journal of Medicine article on ivacaftor.
In a CBS Evening News story, the drug was described as “like insulin for diabetes.”
According to Dr. Rock, the handful of people with CF who have been treated with ivacaftor at American Family Children’s Hospital (AFCH) now have sweat chloride levels that are much closer to normal range. They also have substantially improved pulmonary function. “The results are nothing short of remarkable,” he said. “It’s difficult to say if this is a cure per se, but it’s pretty close.”
Ivacaftor only benefits the 4% of people who have the G551D mutation of CF. But in 2013, UW will be participating in a Phase 3 clinical trial that could possibly benefit up to 50% of people with the disease.
That new trial will evaluate whether combining ivacaftor with another drug, VX-809, is effective for people age 12 and over with two copies of the F508 Delta mutation of CF—the most common CF mutation.
Perspectives on Life with CF
Family Education Day continued with several speakers who offered their perspectives on coping with a life-limiting disease such as CF. (The average life expectancy of a person with CF is currently 37 years.)
Lindsay Shipp, a 28-year-old Madison native and UW graduate, shared her journey: diagnosis at nine months; emerging symptoms, therapy noncompliance, and emotional isolation as a teenager; and failing health in her early 20s.
Shipp, who now lives in San Diego, was a participant in the first clinical trials for ivacaftor. She has been taking the drug for three years, and although she still occasionally gets sick, the disease no longer defines her life the way it once did. She’s now a CFF national spokesperson, an avid runner, an entertainer (she once auditioned for American Idol), and recently got married. “It’s like living a post-CF life,” she said.
Susanna McColley, MD, the co-director of the Cystic Fibrosis Center at Northwestern University, spoke about finding the “sweet spot” between CF therapy, which can be stressful and time consuming, and an enjoyable quality of life.
Later, in a panel discussion, families exchanged personal experiences of loved ones living with CF, and ways to help them overcome the medical, emotional, and social hurdles associated with the disease.
The event concluded with a raffle drawing, in which one lucky winner received an overnight getaway at the Geneva Inn in Lake Geneva, Wisconsin.
Family Education Day for Cystic Fibrosis was presented by the UW Cystic Fibrosis Center and the UW Pediatric Pulmonary Center, and was supported by the following sponsors: