Imagine that you have a disease. It’s a disease you’ve had your whole life, and it haunts you every single day. It affects your breathing, your digestion, and it may even make you infertile. And there’s a good chance that it will take your life before the age of 40, because until recently there was no truly effective method for addressing it.
Well, that prognosis is changing.
It took nearly 22 years, but it's finally here: a drug that treats an underlying cause of cystic fibrosis.
One Step Further in the Fight
Previously, all other drugs for CF were used solely to treat the symptoms, not the causes. The Food and Drug Administration (FDA) approved the drug, called Kalydeco, nearly three months earlier than expected.
The drug, which is manufactured by a company called Vertex Pharmaceuticals, successfully counters the effect of one specific mutation in a gene that causes some cystic fibrosis cases in the United States. While this gene only causes about four percent (or around 1,200) CF cases, it is a significant breakthrough in the medical industry because again, until its release, the only drugs available for cystic fibrosis only treated symptoms.
The Price of Life
The price of treating cystic fibrosis can be expensive, however. The new drug is estimated to cost a patient around $294,000 a year. This may seem astronomical and unrealistic; however the price is very similar to other medications that treat extremely rare diseases. In order to help patients receive the drug without entering lifelong debt, Vertex Pharmaceuticals has stated that it would implement various programs that could assist patients in paying for the drug, or maybe even let them obtain it for free with no strings attached.
What Exactly is Cystic Fibrosis?
Cystic fibrosis is a hereditary disease that can be passed on through generations and causes thick, sticky mucus to build up in the lings, digestive tract, and other areas of the body. Because of its interference with the breathing and digestion processes, cystic fibrosis can be life threatening.
Even though millions of Americans carry the defective CF gene, only around 30,000 of them are actually affected by it. This is because in order to develop cystic fibrosis, one must inherit a defective CF gene from each parent. It tends to target Caucasians the most, and is considered to be the most common deadly inherited disease among American Caucasians, especially those with Northern or Central European descent.
Usually, cystic fibrosis is diagnosed in children before they reach the age of two, though in milder cases may not be detected until the child reaches age 18 or older. Some of the symptoms include slowed growth, salty skin, lack of bowel movements within the first few days of life, and delayed weight gain throughout childhood. Other symptoms may include a distended (bloated) stomach, foul smelling stools that are pale, and severe, persistent coughing. If a male has CF, there is a high chance that he will become infertile.
Blood tests are available that serve to detect the existence of the cystic fibrosis gene. Because of the wide assortment of powerful drugs intended to reduce the severity of symptoms associated with CF, many patients can go on living their lives relatively normal . . . unless they are suffering from a severe case of the genetic disease.
With the introduction of this new drug, which has received a blessing from the FDA, we are taking a step in the right direction: targeting the root cause of cystic fibrosis rather than just the symptoms.