Cystic fibrosis (CF) is a genetic disorder that affects over 30,000 individuals in the United States alone. Although this may seem like a significant number, it’s low enough for CF to be classified as “rare” under the definition created by the US Congress in 1983.
Nevertheless, CF is one of the most common lifespan-reducing genetic conditions in North America and Europe. Advancements in medical care over several decades have transformed the treatment of CF and people with the disorder have greater life expectancy and quality of life than ever before.
However, campaign groups and medical professionals alike realize that there is much more to be done to improve outcomes for CF patients.
This helpful series of videos has been carefully curated to highlight key topical issues surrounding CF and to improve your understanding of the condition. Some illustrate the impact of CF, while others shine a light on the research innovations that may one day transform treatment.
1. CF affects approximately 1 in 3,000 newborns of Northern European ancestry
CF can affect members of all ethnic groups, however, the rate is highest in individuals of Northern European ancestry, where it is present in approximately 1 in 3,000 newborns. This is because the gene mutation associated with CF occurs at a higher rate among this group. In the European Union, the condition is believed to affect roughly 1 in every 2-3,000 newborns.
Affected children aren’t necessarily born to parents with the disorder. Rather, people can carry a genetic mutation associated with CF and pass it on to their children if their partner is also a carrier. This is because the condition is inherited in a recessive manner.
When two parents who carry the mutation (but don’t have CF) conceive a child there is a 1 in 4 chance that their offspring will be affected. In 1 in 2 cases the child will become a carrier of the genetic mutation but won’t develop CF. Furthermore, there is a 1 in 4 chance that child will be neither affected or a carrier.
While affected females can usually conceive, approximately 98% of males with CF are infertile.
2. As recently as 1960 the life expectancy at birth of CF patients was less than one year
Since then, serious progress has been made in both the diagnosis and treatment of the disease. As Marlyn Woo, MD points out in this presentation, over half of all people living with CF in the United States are now over 18.
In addition, children born with CF in 2019 have a life expectancy of approximately 47 years. This is a testament to the great work of researchers and clinicians in improving both the lifespan and quality of life of individuals affected by the disorder.
Nevertheless, it also underlines the gravity of a disease that is still able to reduce life expectancy by 30 years when compared to the equivalent figure for the general population.
However, there remains plenty of cause for optimism. Although still in their infancy, pioneering new drugs and gene therapy hold promise as potential groundbreaking treatments in the future. Meanwhile. advocacy groups such as the Cystic Fibrosis Foundation (CFF) continue to push for better understanding and more research spending.
Highly specialized care and wider awareness have advanced the cause of CF patients over recent decades but there remains much more to be done before the puzzle is solved.
3. Although CF is usually detected in infants, diagnosis can occur in adulthood too
Although newborn CF screening programs do exist, they aren’t widespread in the United States or other developed countries. Instead, the disorder is typically diagnosed in early infancy, often via sweat testing. One early sign that is frequently detected by parents is the salty taste of an affected child’s skin. This is a result of elevated sodium and chloride levels present in the sweat of people with CF.
Nevertheless, some people reach adulthood without realizing that they have the condition. Some present with vague symptoms and others suffer a milder form of CF. This is because the mutations that lead to the disorder differ from patient to patient and can be more or less severe.
For instance, some men don’t receive a CF diagnosis until they undergo tests for infertility.
4. There are many ways to support the cause of the CF community
We previously mentioned CFF but there are many other non-profit organizations doing important work to advance the cause of CF patients. Among them are Cystic Fibrosis Canada and the Cystic Fibrosis Trust of the UK. They play a pivotal role in raising public awareness, supporting patients, and driving forward new medical research.
Each of these charities accepts donations that serve to further their vital advocacy role. But giving money isn’t the only way that you can express support and solidarity. By becoming a registered donor you can potentially transform the life of a CF patient awaiting a lung transplant.
Although tremendous progress has been made to raise awareness of CF, many people remain unaware that it remains one of the leading life-limiting genetic disorders in the world. Further work is needed to educate the public and to ensure that research funding and private donations continue to flow toward the end goal of better and more sophisticated treatments.
5. Gene therapy is a promising treatment that has the potential to transform CF care
Diagnostic and treatment approaches to CF have improved vastly over time but a cure for the disorder remains elusive. Instead, doctors focus on managing symptoms through a combination of medication, therapy, and lung transplantation.
However, gene therapy or gene editing is an active area of research that may lead to significant breakthroughs. In short, the aim is to place a healthy copy of the mutated gene responsible for CF into affected cells.
While experts urge caution because of the numerous challenges still facing researchers, this technique may ultimately hold the key to not just treating CF, but eliminating it entirely.
6. Friends, family, and partners have a critical role in helping CF patients cope with their hidden challenges
Many people are familiar with the constant stress CF patients face in the form of medical appointments and ongoing treatment challenges. However, the battle doesn’t start and end in the doctor’s office. Family members and loved ones play a critical role by providing logistical, physical, and psychological support to the person affected.
The young woman affected by CF in this video is a popular vlogger named Mary Frey. In the video, her husband Peter assists with careful access to her port-a-cath. This is a device that provides ongoing access to the bloodstream for the delivery of antibiotics and IV fluids. While the port can be accessed from home, it is crucial to maintain a sterile environment to prevent infection or contamination.
7. Coping with CF requires remarkable resilience, particularly when struggling with other health challenges
Unfortunately, the risk of colorectal cancer is significantly elevated in CF patients. Although the reasons for this are not fully understood, it is thought to be linked to the gene mutation that causes CF. This risk is elevated further by lung transplantation because of the medications that are used to lower the risk of the body rejecting the new organ.
Medical professionals recommend that CF patients start undergoing cancer screening via colonoscopy earlier than the general public: at 30 if you’ve had a lung transplant and 40 if otherwise. But remember, even in the face of multiple health challenges people with CF can often go on leading full and varied lives.
8. This challenge can be emotional as well as physical
“Brave” is often the first word that springs to mind when someone is asked to describe a person facing serious health challenges. Although this may be accurate, the mentality of “staying strong” can be destructive when it leads to bottling up emotions. There is nothing wrong with opening up and talking frankly about your mental health.
The risk of Major Depressive Disorder (MDD) is understandably elevated in people with chronic health problems. Financial worries, reduced quality of life, and fears over the future are just a few of the ways in which CF can inflict stress on an individual.
The most important message of this video is that people with CF shouldn’t be afraid to also seek help in matters of mental health. There are treatments and therapies available that can help with all aspects of wellbeing.
9. A supportive environment is critical if children with CF are to succeed in education
Many teachers face a huge challenge coping with the burden and stress of their work. Nevertheless, its hugely important that these important figures in a child’s life are patient and compassionate in their handling of students with CF. Talking to a teacher about how they can become an ally is critical because many people remain unfamiliar with the nature of the disorder.
This video demonstrates some of the ways in which CF can be explained to a teacher. It also shows how simple adjustments can make a huge difference in allowing a student with the condition to thrive in an understanding and supportive environment.
