As a parent, there are so many things to consider when it comes to our children’s health and wellbeing. Knowledge is power in this regard, which is why we’re sharing vital information about illnesses and genetic disorders, including Cystic Fibrosis (CF).
“Cystic fibrosis is a genetic disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene is responsible for regulating the movement of salt and water in and out of cells, affecting the production of mucus, sweat, and digestive juices. As a result, adults and children with CF experience an abnormal buildup of thick and sticky mucus in various organs, particularly the lungs and pancreas,” explains Dr Stern Pretorius.
“knowledge is power.”
How can I tell if my child has CF?
Cystic Fibrosis (CF) can affect infants and young children, and early detection and diagnosis is crucial for timely intervention. Here are some key things that parents can look out for if they suspect Cystic Fibrosis in their children:
Respiratory Symptoms. Pay attention to persistent coughing, wheezing, or shortness of breath that doesn’t seem to go away. If your child frequently experiences respiratory infections, such as pneumonia or bronchitis, it may be a cause for concern. Nasal polyps or chronic nasal congestion can also be indicative of respiratory issues associated with CF.
Digestive Symptoms. Watch for signs of poor weight gain and growth despite adequate food intake. If your baby has frequent bowel movements that are greasy and foul-smelling, it could be a sign of malabsorption caused by CF. Abdominal pain or discomfort, as well as meconium ileus in newborns (a blockage in the intestine), should be monitored closely.
Sweat salinity. Excessive salt in sweat is a common characteristic of CF. If you notice that your child’s skin tastes unusually salty after they have been sweating, it is advisable to consult a healthcare professional for further evaluation.
Family history. Consider your family history when assessing the risk of CF. If there is a family member, particularly a sibling, who has been diagnosed with Cystic Fibrosis, it increases the likelihood of the condition being present in your child.
Failure to thrive. If your child consistently falls behind in growth and weight gain milestones, it may be a cause for concern. Proper growth is essential for children’s overall health and development, and persistent failure to thrive should be investigated further.
“If you notice any of these signs or have concerns about your child’s health, it is important to consult a paediatrician or a specialist with expertise in Cystic Fibrosis. Early diagnosis and intervention can make a significant difference in managing the condition and ensuring your child receives appropriate medical care and support,” Dr Pretorius advises.
“Early diagnosis and intervention can make a significant difference in managing the condition and ensuring your child receives appropriate medical care and support.”
What causes Cystic Fibrosis?
Cystic Fibrosis is caused by inheriting two copies of the defective CFTR gene, one from each parent. The faulty gene leads to a dysfunctional chloride channel, resulting in the abnormal production of mucus and impaired fluid balance in various organs. The severity of CF symptoms can vary among individuals based on the specific mutations present in the CFTR gene.
Please note that if your child is a carrier of the CFTR mutation they may have mild symptoms of the disease and it is advisable to have them tested.
In South Africa, cystic fibrosis affects individuals of diverse backgrounds. While precise statistics on CF prevalence are not readily available, organisations like the South Africa Cystic Fibrosis Association (SACFA) provide support and resources for patients and their families. Collaborations with healthcare providers specialising in CF, such as paediatric pulmonologists and gastroenterologists, are essential for optimal management.
“Please note that if your child is a carrier of the CFTR mutation they may have mild symptoms of the disease and it is advisable to have them tested.”
How is CF treated?
While there is currently no cure for Cystic Fibrosis, advances in medical care have significantly improved the quality of life and life expectancy for the majority patients. Treatment and management strategies aim to alleviate symptoms, prevent complications, and improve overall health. According to Dr Pretorius, the following approaches are commonly utilised:
Airway Clearance Techniques
- Chest physiotherapy: Techniques to help loosen and clear mucus from the lungs.
- Breathing exercises: Deep breathing exercises and controlled coughing to improve lung function.
- Inhalation therapies: Medications, such as bronchodilators and mucolytics, delivered through inhalers or nebulisers to open airways and thin mucus.
Nutritional support
- Pancreatic enzyme replacement therapy: Oral enzymes to aid digestion and nutrient absorption.
- High-calorie diet: Ensuring adequate caloric intake to maintain optimal growth and weight gain.
- Vitamin and mineral supplementation: Meeting nutritional needs and preventing deficiencies.
Medications
- Antibiotics: Prescribed to treat and prevent respiratory infections.
- Anti-inflammatory medications: Reducing airway inflammation and improving lung function.
- CFTR modulator drugs: For specific mutations, these medications help correct the defective CFTR protein’s function.
Lung transplantation
- In severe cases where lung function significantly declines, a lung transplant may be considered.
To summarise, Cystic Fibrosis is a complex genetic disorder that significantly impacts the respiratory and digestive systems. 
Remember, while the signs and symptoms mentioned in this article may raise suspicions, a confirmed diagnosis of Cystic Fibrosis can only be made through specialised testing and medical evaluation. Trust your instincts as a parent and seek professional guidance to address any concerns you may have about your child’s health.
