By Dr Ananya Mandal, MD
Cystic fibrosis is a genetic condition that affects the production and flow of mucus in the respiratory and digestive system. The lungs and intestine become clogged up with a thick, sticky mucus which causes symptoms such as a persistent cough and recurrent infections.
The symptoms of this incurable condition usually manifest within the first year of life, although they can develop later. Recurrent infections and malnutrition often affect growth and the lifespan is significantly shortened. Symptoms vary in intensity and severity from person to person and are managed using physiotherapy, physical therapy and nutritional therapy.
Cystic fibrosis can be a difficult condition for a patient and their family members to cope with. Education and support groups are available to help patients and families manage the emotional repercussions of living with the disease as well as helping patients to lead a life that is as full and active as possible. Educational programs and materials are tailored to suit patients of different age groups as well as their caregivers and members of family.
Patients and their families are also provided with genetic counselling to help them understand the genetic basis of cystic fibrosis, which can be particularly helpful to parents who may be struggling to come to terms with how their child has become ill. Individuals are also educated about the nontransmissible nature of the disease. In addition, the patient’s family members are encouraged to undergo genetic testing to find out whether or not they are carriers of the condition.
Parents and caregivers are educated with regard to helping the patient grow and develop as normally as possible in both a physical and emotional sense as well as helping the patient take care of themselves and live independently.
Patients and their families need to understand the importance of attending clinical follow up appointments and receiving routine vaccinations, chest physiotherapy and nutritional support. Life expectancy among individuals with this condition is increased with better nutrition and improved lung function.
Another complication of cystic fibrosis is infertility. Malnutrition leads to delayed puberty, hormonal imbalances and infertility. In men, the tubes that carry sperm do not develop normally. In women, the cervical mucus is thicker and more difficult for sperm to penetrate.
Reviewed by Sally Robertson, BSc