Bridging the Gap - Health Equity for all

Life Just Keeps Getting Longer and Longer for Cystic Fibrosis Patients

For a group of people whose median lifespan in 1954 was 4–5 years of age, life is looking pretty good these days for the average cystic fibrosis (CF) patient. Medical science has been steadily pushing the needle since that era, and according to the Cystic Fibrosis Foundation Registry Report, kids born in 2019 with the condition can now expect a median survival age of 48.4 years. That’s an incredible achievement. We have plenty to celebrate, but there’s work to be done. New challenges must be factored into the long-term care of patients with CF; inequities in care continue to place an unfair burden on minorities; and our treatments don’t always work for everyone, let alone cure them. <h2>CF: one heck of a sticky situation</h2> For most of us, bodily secretions like mucus, sweat, and digestive juices are thin and slippery substances that can be excreted through the normal channels with relative ease. Not so for those with CF: a defective gene messes up the composition of these secretions, making them thick and sticky. What should be a lubricant for our passages, ducts, and tubes is a substance that now blocks everything up, especially in the lungs, where it can cause serious damage. Other organs like the pancreas can be badly hit too. The gene in question (CFTR: cystic fibrosis transmembrane conductance regulator) develops mutations that disrupt the production or functionality of CFTR protein that’s found in lung cells and elsewhere. CF is a complicated condition, but most can manage it with treatment and live relatively normal lives, attending school and work. It’s an inherited disorder that is progressive and requires daily maintenance to keep things in check. Advances in treatment have translated into life expectancies up to around 40, though some make it to their 50s. “Having CF is like being in a boat with a hole in it,” remarked CF patient Brent Hendricks to NPR. “You can keep bailing the water out, and you're fine, but the second you stop, the boat's going to sink…[I’ve] got to make sure I don't sink.” Hendricks lost a sister to the same disorder when she was only 15. Tiffany succumbed due to excessive bleeding from her lungs. Commenting on the perspective that one must carry as a CF patient with a limited life, Hendricks says he plans on “sucking every bit of juice out of every single day.” “Death is like a deadline. You have to finish everything you want to do before then, so don't waste your time,” added Hendricks. <figure><img alt="" height="500" src="https://cdn.storymd.com/optimized/6qyRaOF5A1/thumbnail.jpg" width="751" /> <figcaption>Who Is at Risk for Cystic Fibrosis and what are the Signs and Symptoms? Source: National Heart Lung and Blood Institute (NIH)</figcaption> </figure> <h2>Lifespans increasing</h2> When CF was first described in 1938, it was diagnosed postmortem in babies under 18 months of age. With scant knowledge about the disease, these babies sadly did not stand a chance, but things changed after the war when antibiotics were made available to the public. This allowed for the treatment of lung infections in kids with the condition, although it only reaped modest benefits for their survival. Throughout the 20th century, as experience and research taught the medical community how to better handle this disorder, the median age began to climb bit by bit. With a greater understanding of the pathology, therapies became more refined, and vigorous programs to regularly clear out the airways in patients were undertaken, in tandem with antibiotic treatments for flareups called pulmonary exacerbations (lots of coughing, excess mucus production, and shortness of breath, etc.). Workarounds for nutrition were devised to aid with the absorption of high-calorie and high-fat diets, along with vitamins essential for good health; pancreatic enzyme supplements were introduced with microencapsulation to avoid being destroyed in the stomach; and the widespread implementation of newborn screening helped to achieve better outcomes for patients. With new drugs, immunizations, and other treatments, the median survival age kept creeping up. One such treatment that’s made a lot of noise in recent years is CFTR modulators. They’re not a cure, but they may be able to slow disease progression in as much as 90% of patients. These drugs work by targeting the defective protein and curtailing their sticky effects by pushing them to the cell surface and helping them to function properly. Clinical trials for CFTR modulators have shown improvements in weight and lung function, as well as reduced pulmonary exacerbations requiring antibiotics. Around a decade ago, we were celebrating that babies born in the period of 2010 to 2014 would live to a median age of 40. Now, with data predicting 48.4 years for those born in 2019, it’s safe to say that enormous progress has been made in both the lifespan and quality of life for CF patients. <figure><img alt="" height="480" src="https://cdn.storymd.com/optimized/aAR4GDfvdz/thumbnail.jpg" width="640" /> <figcaption>CFTR medication for cystic fibrosis Source: wikiHow</figcaption> </figure> <h2>New challenges on the horizon</h2> We’re entering new territory for CF, as with age comes complications that can compromise health. Different manifestations of the disease may emerge, and high blood pressure and heart disease could prove problematic as well. As it stands, there are racial and ethnic disparities prevalent in the data regarding health outcomes; for example, Hispanic white and African-American people with CF have worse pulmonary function compared to non-Hispanic white counterparts. CFTR modulators have not been fully extended for use in children and infants yet, but there is speculation that they could benefit the most from them. By minimizing the amount of damage caused to organs earlier on, we can preserve functionality, and that could in turn lead to longer lifespans with an even better quality of life. It’s possible that this application could be extended as far as in utero (while mom is still pregnant with the child). CFTR modulators are not universal, however. Some mutation classes aren’t affected by them, so the drugs fail, and some patients can’t tolerate them well. You’ve also got cost barriers that reduce access for some. Most exciting of all, there’s experimentation underway with the revolutionary gene-editing tool known as CRISPR. In theory, it may be possible to replace the entire defective CF gene at the site and therefore correct all mutations. If done early on in life, it’s possible that these patients could live normal lives that are free of the disease. <h2>More on Cystic Fibrosis</h2><ul><li><a href="https://soulivity.storymd.com/journal/pwgr5xoc4j-cystic-fibrosis" target="_blank">Cystic fibrosis (CF): Causes, Diagnosis, Treatment</a></li><li><a href="https://soulivity.storymd.com/journal/6wxd436tzm-mucus" target="_blank">The Marvels of Mucus</a></li><li><a href="https://soulivity.storymd.com/journal/m78opa2upj-inheriting-genetic-conditions" target="_blank">How Genetic Disorders Are Inherited</a></li></ul>

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