Family keeps up the fight against ‘silent killer,’ cystic fibrosis
November 29, 2011
By Sarah Gerdes
Erin Hamilton remembers the day “life stopped.” She was on Exit 13, on her way home from Seattle Children’s, her 10-day old daughter strapped snuggly in her car seat, her husband by her side.
“Molly has cystic fibrosis,” the doctor told her.
Hamilton doesn’t remember much after that.
“Those two words were like hearing a death sentence,” she said.
That moment was the beginning of a journey full of tears, pain and frustration, as Hamilton and her husband Bill sought to educate themselves and those around them about a disease little understood, but one where significant advancements have been occurring to extend the life of those afflicted.
The silent killer
Only 30,000 children and adults are afflicted with cystic fibrosis in the United States. For decades, CF was misdiagnosed, earning the nickname “the silent killer,” because the victims of CF often didn’t display any signs of illness before passing away.
“The first thing I Googled told me the average life span was 19 years,” recounted Hamilton, who crumpled in sobs on her bathroom floor, where she was later found and comforted by her husband. Reactions from friends and even relatives didn’t help.
“One of my aunts who has a Ph.D. in psychology called me up crying, asking if she could make the funeral arrangements,” Hamilton said.
She later learned this was a common reaction, and was due to a lack of education rather than sensitivity.
The Hamiltons learned that like cancer, CF has more than 1,000 types of mutations, or ways the cell is broken. Dr. Bonnie Ramsey, director of the CF Therapeutics Development Network Coordinating Center at Seattle Children’s, described CF.
“The Cystic Fibrosis Transmembrane Conductance Regulator Protein, or CFTR, is a salt channel that sits in the membrane of lining cells of the airway and other organs, such as the pancreas and the liver,” she said.
CFTR is one of many channels responsible for regulating salt and water movement in and out of the airway. When CFTR does not work properly, the airways (i.e., bronchi) do not have enough salt water lining their walls and this leads to thickening of the protective mucus in these airways.
In Molly’s case, the enzymes in the pancreas are blocked by thick mucus, disabling the body’s ability to absorb and digest fat solubles. The mucus becomes thick and often blocks the airways. In addition, these airways are very prone to infections, with bacteria leading to frequent bronchitis and eventual structural damage to the airways.
Coming out of the darkness
During the first year of Molly’s life, Hamilton rarely ventured outdoors with her daughter. A slight cold could permanently damage Molly’s lungs. Visitors to the house were “doused head to toe in Purell,” and those with a cough or illness were asked not to come.
As time progressed, Hamilton and her husband Bill, an executive at Microsoft, realized that Molly needed to “live life,” to “experience the fun and joy of living.” While Molly may not be able to experience sleepovers, Hamilton is growing more confident that she will live a full, active life.
As the Hamiltons’ understanding of the disease increased, so did their hope.
Ramsey has been working with the pharmaceutical company Vertex to develop VX-770, a drug that allows the body to bring the salt chloride levels to normal. This is nothing short of a miracle as far as Ramsey and the Hamiltons are concerned.
The VX-770 is for “a unique patient population that represents about 5 percent of all patients,” Ramsey explained.
The phase 1 and 2 studies were completed by 2009, “and showed a dramatic correction of the sweat test, which is the diagnostic test for CF.”
Encouraged by those results, the CF community and Vertex proceeded to conduct a phase 3 efficacy trial in patients with G551D, 12 years and older. Two weeks ago, the results of the study were published in the New England Journal of Medicine. According to Ramsey, the results “showed a dramatic improvement in lung function and weight gain, as well as a decrease in the number of lung infections over a 48-week treatment period.”
Although Ramsey doesn’t yet know whether the drug will change the lifespan of patients with G551D, the results are very encouraging.
“Even the 95 percent of patients and families who do not respond to VX-770 alone know that this is only the first step and that other drugs such as VX-809 are coming soon that could be used in combination with VX-770 to improve their lives as well,” Ramsey said.
“It’s not about a cure,” Hamilton said. “It’s going to be about management.”
As hope increased, so did Hamilton’s perspective on life.
“We thought we had the life before this happened, but what I realized is that we had an empty life full of traveling and things,” she said. “Molly’s being here has given us purpose and meaning.”
Hamilton’s spare time is now devoted to fundraising for the Cystic Fibrosis Foundation, a research organization that boasts the highest rate of donations given to research. Because the foundation is supported entirely by private funds and grants, local chapters hold fundraisers throughout the year.
The annual gala is held in the middle of November, and a Climb for a Cure event is Dec. 1. This year, Molly has her own team, where climbers earn money from sponsors for each stair climbed.
“Every year we have more hope, thanks to the promise of the drug,” Hamilton said. The life expectancy rate has risen from 19 to 43 in the past decade. “It’s a very exciting time for us and everyone who lives with CF.”
Sarah Gerdes is a freelance writer. Comment at www.issaquahpress.com.