A Tale of Two Sisters With Cystic Fibrosis Highlights the Barriers to Treatment Access That Still Remain

According to a story from the Sunday Post, sisters Shona and Kirsty Young, aged 24 and 29 years respectively, were both born with the devastating rare disease cystic fibrosis. However, the two women are not being treated in the same way. Kirsty has access to the drug Symkevi, but Shona does not. As the drug is not covered on the UK’s NHS, only patients whose lung function falls below a certain level are able to use it.

Cystic fibrosis is a type of genetic disorder which can have impacts throughout the body, but it is most characterized by the build up of abnormally thick, sticky mucus in the lungs. This mucus becomes a fertile breeding ground and habitat for potentially infectious bacteria. Many patients must take antibiotics for much of their lives. This disorder is caused by mutations of the CFTR gene. Symptoms of cystic fibrosis include progressive decline in lung function, lung and sinus infections, coughing up mucus, fatty stool, poor growth, infertility in males, clubbed digits, and digestive problems. Treatment includes antibiotics and medications or procedures intended to maintain lung function. Lung transplant is an option when lung function declines severely. Life expectancy ranges into the 40s and 50s with good care. To learn more about cystic fibrosis, click here.

Stuck in Limbo

Kirsty has seen her lung function decline to the specified level, but Shona has not. However, if the situation continues, it is likely that Shona’s ability to breathe will soon worsen even though using Symkevi could help delay the progression of these symptoms. Symkevi and another cystic fibrosis drug, Orkambi, were both rejected by the Scottish Medicines Consortium because they were not deemed cost effective; drug maker Vertex wants to charge £100,000 annually per patient for the drugs.

The company currently provides the drugs through a “compassionate” access program to 1,000 patients that are facing the most serious breathing declines. Negotiations between regulators and the company continue. Patient community buyers’ clubs are hoping to purchase the medications from overseas while the company and regulators continue to bicker.

Meanwhile, research continues on the development of a gene therapy for cystic fibrosis, which would render medications such as Symkevi obsolete.

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