SALT LAKE CITY (ABC 4 News) It is a disease that robs people of their lives at a young age. The life expectancy of a person diagnosed with cystic fibrosis is 38 years old. Somer Love tells me, with a laugh, that she is 30 and a half. She celebrates half birthdays because when she was a baby her parents were told she wouldn’t be here right now. “When I was diagnosed they told my parents I wouldn’t live to be ten so, I’m doing pretty good.”
But it’s not easy for Somer to be as healthy as she is. “I get up and take my pills and my nebulizer treatments and start my day. Somer takes fifty different pills and supplements and her nebulizer treatments take three hours. That is what it takes to keep her lungs free of the sticky mucus caused by cystic fibrosis.
The disease is caused by a defective gene. Dr. Theodore G. Liou, at the University of Utah, says it causes cells to manufacture defective protein. It prevents chloride from moving between the inside and outside of cells, and that is what causes the sticky mucus to form. Dr. Liou says “the function of normal mucus is to clear infections but because it’s thick, the patients can’t clear the infection.” He says eventually, after repeat infections, the lung tissue becomes damaged. “Eventually the patient will die because of the lung disease.”
Until now there have only been medications to manage the symptoms of cystic fibrosis. Dr. Liou says “there was nothing available that treated the root cause of the disease, and now we have a few trials going that are getting very close to the cause.”
One of those is happening right now at the University of Utah. The drug, called VX-770 appears to correct the function of that defective protein and helps it function normally. “This molecule that binds the defective protein, and helps it function so that chloride, which is part of table salt, can move in a more normal way between the outside and the inside of cells. This medication, for some patients, may be able to bind that defective protein and work again.”
Dr. Liou says patients could see a thinning of the mucus. “For patients who have advanced disease, I think it’s going to mean that the disease will slow down, and we will still have to deal with the lung damage because that is permanent, but for patients with mild or no disease in the lungs yet, this may mean that they will be spared a lifetime of worsening lung disease.
Somer says she is optimistic, and likes the idea of taking a pill three times a day instead of her usually regimen. “I definitely think that I will see a cure in my lifetime. So, like we now have newborn screenings, and we have newly diagnosed babies that I know will see the cure.” Until then, she says she takes one day at a time, one breath at a time. “I truly celebrate every breath because you just never know.”
