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Cystic Fibrosis: A Rare Respiratory Disease

Cystic Fibrosis: A Rare Respiratory Disease

Cystic Fibrosis: A Rare Respiratory Disease

By

Dave Jobes, Ph.D.

What is Cystic Fibrosis?

Cystic Fibrosis (CF) is a genetic condition that affects approximately 30,000 people here in the US and another roughly 40,000 people around the world. CF occurs because of genetic mutations that occur in a particular gene called the CFTR gene. There are about 1,700 mutations that have been mapped to CFTR, but not all of them lead to CF and some mutations only lead to mild disease. However, for patients who have the more severe forms of the disease, the health impacts can be dramatic.

Every year, we see about 1,000 new diagnoses and 75% of these diagnoses occur by the age of 2. In the early days of the disease, most children died by the age of 2 from the disease, but with recent new and more effective treatments (see below) now more than half of CF patients are over 18 years of age.

What are the symptoms of CF?

CF is generally characterized by the following symptoms:

  • A persistent, phlegmy cough

  • Wheezing and/or shortness of breath.

  • Frequent infections of the lungs, both bacterial and viral, are quite common

  • Poor growth and inability to gain weight

  • Salty-tasting skin

  • Infertility in men (~97% infertility rates)

  • Difficulty with bowel movements and greasy, bulky stools

What are the treatments for CF?

These are exciting times as new, very effective treatment options are now available, that have dramatically extended the quality of life for CF patients. Also, CF patient life expectancy has doubled in recent years to nearly 38 years, and with additional new treatment options coming online, that is expected to continue to increase.

Here is a partial list of some of the therapies and treatment options for CF patients. You can see a more comprehensive, technical list here:

  • Lung transplant (needed in very severe cases)

  • DNase: Read here if you want to know more about the science.

  • Inhaled tobramycin is an antibiotic that gets administered directly into the lungs to fight bacterial infections

  • CFTR drugs: these drugs actually work directly on the disease itself to enhance the patients lung function. They hold the most promise as they are used to treat the disease and not just the complications of the disease. The drugs are made by Vertex Pharmaceuticals: Kalydeco (ivacaftor), Orkambi (a combination of ivacaftor and lumacaftor), Symdeko (tezacaftor and ivacaftor), with more in the pipeline.

Can CF patients lead an active life?

Absolutely! With the new treatments and more emphasis on overall health, more and more CF patients are experiencing a better, fuller quality of life. For instance, Jared Wells, a 22-year old CF patient recently finished 4th place in a bodybuilding competition. Additionally, Ben Mudge, a 27-year old CF patient became a personal trainer (and Thor look alike!) who works out 5-6 days/week and advises other CF patients on how they can incorporate workouts into their daily lives. Both Ben and Jared are real-world examples of how CF patients can survive and thrive and I think we can expect much more of this as treatments continue to get better.

Here are some additional resources if you’d like to learn more about CF:

  1. CF Foundation: https://www.cff.org/

  2. CF Genetics: https://www.cff.org/What-is-CF/Genetics/CF-Genetics-The-Basics/

  3. Treatments & Therapies: https://www.cff.org/Life-With-CF/Treatments-and-Therapies/

  4. CFTR Gene: https://ghr.nlm.nih.gov/gene/CFTR

Technical and medical information from the National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/cystic-fibrosis/