Living with cystic fibrosis: A mother’s journey of strength and hope: Interview

(CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of the respiratory and digestive systems. It is estimated that over 70,000 people worldwide live with CF. The condition is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which affect the movement of salt and water in and out of the cells that produce sweat, mucus, and digestive fluids.

In healthy individuals, these fluids are thin and slippery. However, in people with CF, they become thick and sticky, clogging ducts, tubes, and passageways throughout the body. This primarily impacts the lungs, pancreas, liver, intestines, and overall digestion. Individuals with CF may experience a wide range of symptoms depending on the severity of the disease, including salty-tasting skin, frequent chest infections that can lead to respiratory failure, persistent coughing, shortness of breath, malnutrition, and exercise intolerance.

To better understand the diagnosis and daily life of someone living with CF, and to help raise awareness, we interviewed a mother of a 6-year-old girl living with the condition.

To learn more about cystic fibrosis, read our blog article

The questions covered in this interview are:

• How old was your daughter when she was diagnosed with CF?
• Can you describe your first thoughts and feelings upon receiving the diagnosis?
• Did you and your husband undergo genetic testing to confirm CFTR mutations? Were you offered any genetic counselling or support at the time?
• What kind of medical or emotional guidance did you receive from these specialists when the diagnosis was confirmed?
• What were her early symptoms, and how have they evolved over time?
• Is she currently on any medications or therapies? If yes, when did her treatment begin?
• How often do you go for check-ups, and what do they include?
• Have you seen noticeable improvements or setbacks with her treatment plan?
• How has CF affected your family’s daily routine?
• What kind of support (e.g., from school, friends, or healthcare) has been most helpful?
• Are there any misconceptions about CF you’ve encountered that you’d like to correct?
• What has been the most challenging part of this journey for you?
• How did the CF diagnosis influence your approach to your second pregnancy? Did you make any special preparations or undergo prenatal testing?
• What would you want other parents, especially new or expecting parents, to know about CF?

Click on the button below to read the full article in PDF format.