On the “Course” for a Better Cystic Fibrosis Treatment

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Lung & Respiratory

The life of Rachel Course mirrors that of many other women her age. Rachel is a proud California State University, Long Beach graduate who enjoys cooking, singing, eating and spending time with her family, friends and boyfriend, who recently proposed to her this past Thanksgiving (she said yes!). You probably wouldn’t know it if you came across her on the street, but for the past 25 years Rachel has been living with cystic fibrosis (CF).

Cystic fibrosis (CF) is a life-threatening, genetic disease that primarily affects the lungs and digestive system. People with CF inherit a defective gene that causes a buildup of thick mucus in the lungs, pancreas and other organs. When mucus clogs the lungs, it can become very difficult to breathe. The thick mucus also traps bacteria in the airways, which can result in infections, inflammation, severe lung damage or respiratory failure. In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body break down food and absorb important nutrients, which can cause malnutrition and poor growth.

When Rachel’s mother was pregnant with her, physicians at Miller Children’s Hospital Long Beach were able to prenatally diagnose her with CF. Rachel’s brother, Nathan, who is four years older than her also suffers from CF and was diagnosed with the disease when he was four-months-old. Having two children with CF, Rachel’s family made it a point to try and be a part of any significant research being done to benefit CF patients. Now that she is older, Rachel has continued that trend on her own.

Last year when Rachel and her family heard of a new “breakthrough” treatment for CF patients, she and her brother came to Long Beach Memorial to inquire about it. After going through the application process Rachel received word that she was chosen to be a part of the clinical trial. Although her brother was not eligible, Rachel enrolled in the hopes that this drug would eventually help others, like her brother, in the long run.

Researchers are studying the effects of a drug in combination with another potential therapy in people with the most common mutation of CF. Both drugs are designed to treat the underlying cause of CF, a faulty protein product.

“The basic problem with CF is that your body is incapable of correctly producing an essential protein,” says Nan O’Donnell, Research Nurse, Long Beach Memorial. “The creation of this faulty protein makes it difficult for sodium and chloride to exchange in and out of a cell and stay balanced. This drug helps to produce a proper protein in order to create a thinner mucus.”

For the first six months of the trial, patients like Rachel, were given either a placebo or active drug in a double-blind trial. Double-blind trials are done so that neither the patients nor the physicians administering the drugs know which of the groups being studied is the control group and which is the test group. This type of testing guards against both intentional and unconscious bias.

“I’ve always been on the healthier side with my CF, so when the testing started I wanted to make sure that I did everything I could to not sway the test results one way or another,” says Rachel. “I made sure to never miss a dose and really started to take care of my health.”

During her testing Rachel also had to visit her physician more often for extra testing. Electrocardiogram (EKG) testing, blood testing, pulmonary function testing and physician exams are all increased in order to chart any changes in Rachel’s health.

Knowing that this is only the beginning of what could be a life-changing drug for some CF patients, Rachel continues to do her part. “I’m doing this for my brother,” says Rachel. “I want to make sure that I do my part to eventually cure CF.”