Cystic Fibrosis

A rare genetic disease with an incidence rate of 1:4500 in the Czech Republic [TA1], 35-45 children with CF are born annually. For a child to be born with this disease, they must inherit the damaged CFTR gene from both parents. This results in damage to the lungs and pancreas, increased chloride concentration in sweat, and male reproductive disorders. The disease is part of the newborn screening program and is currently treatable. Treatment mainly focuses on combating infections and maintaining the patency of the respiratory tract (e.g., through inhalation). Proper nutrition is also essential, requiring 130-150% of the daily recommended dose for the general population.

Valerie, 40 years old, cystic fibrosis, lives in Belgium

Living with a chronic and severe illness affects many aspects of life. Every day, I undergo numerous medical procedures, physiotherapy sessions, often visit hospitals, experience feelings of fatigue, and sometimes even exhaustion. I’m frequently absent from work and have limited social activities with family and friends. I’m also swamped with loads of paperwork and logistics to manage all medical appointments, medications, and insurance matters… You can NEVER take a vacation from your illness! Although the average life expectancy for cystic fibrosis in Belgium is around 30 years, this year I’m celebrating my 40th birthday. It’s truly an incredible milestone for me, as my expected lifespan at the time of diagnosis wasn’t more than ten years.

Jan, 41 years old, genetic disorder cystic fibrosis, Czech Republic

A patient (and their parents), if they are a bit lucky, will encounter wonderful, willing, and passionate people throughout their life – other patients, members of patient organizations, and of course doctors and specialists. I was fortunate. The challenging life with a rare disease shifts values and priorities in a patient’s life. I’ve come to appreciate ordinary things and situations more. Good people, friends, buddies, and colleagues are the ones who have remained in my life. It’s like a “filter for good people.” Because the inhalation treatment takes up much of my day (4 hours when everything’s ideal, more when it’s not – e.g., acute deterioration, infections, etc.), over the decades I’ve learned to use part of this time for reading, watching videos, lpearning, studying, and eventually working on the computer (I studied architecture, then got into graphic design, website creation, and web design, which I continue to do). Thus, the time spent on treatment isn’t 100% „wasted.“