Spotting the signs of cystic fibrosis early in your child

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Cystic fibrosis (CF) is an inherited life-threatening disorder that affects all parts of the body, but predominantly the lungs and digestive system.

“CF occurs in people of all races and backgrounds throughout the world. It’s estimated there are approximately 700 people with cystic fibrosis in South Africa,” says Dr Marco Zampoli, paediatric pulmonologist and head of the CF Clinic at the Red Cross Children’s Hospital.

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Diagnosing Cystic Fibrosis

Unlike many other countries, there is no newborn screening programme in South Africa for CF.

And, due to the complex nature of the disease, limited access to diagnostic tests outside the main cities, and low levels of CF awareness in society, an unknown number of people with CF are likely being misdiagnosed with conditions that resemble CF such as asthma, tuberculosis or malnutrition, and subsequently do not have access to proper treatment. These people, children more specifically, often die from malnutrition or pneumonia. Because treatment is available, it is important to reduce the incidence of misdiagnosis by raising awareness of the disease in all parts of South Africa.

Symptoms of cystic fibrosis

According to SACFA, CF affects a number of organs in the body, primarily the lungs and pancreas, by clogging them with thick and sticky mucus.

Prominent symptoms, which often appear in infancy and childhood, include:

  • Frequent lung infections that may lead to breathing problems, lung damage, prolonged courses of antibiotics, and respiratory failure requiring support by a ventilator. Repeated infections and blockages can cause irreversible lung damage.
  • Mucus that blocks the tiny ducts of the pancreas which supply enzymes required for digestion.  Consequently, food is not properly digested and absorbed, and nutritional value is lost in the process.
  • Salty-tasting skin. The sweat glands are affected and the body may lose an excessive amount of salt during exercise or hot weather.
  • CF can also lead to frequent sinus infections, diabetes mellitus, and difficulty with digestion and fertility problems.

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Treating cystic fibrosis

There is no cure for CF. However, advancements in treatment have made it possible for people with CF to live much longer than ever before.

Dr Zampoli says the most important aspect of therapy in CF is preventing malnutrition and lung damage that is caused by thick mucus and infection, so as to maintain a good quality of life. “The damaging effects of CF begin in early life and accumulate over time. Early diagnosis and appropriate medical treatment in early life is critical to ensure people born with CF can lead normal, healthy productive lives.”

Among these treatments is Creon, a pancreatic enzyme replacement therapy (PERT) in the form of capsules. This capsule enables people with CF to absorb nutrients from food. It is specially designed to help the body absorb fats, proteins and carbohydrates.

In studies of children with CF, Creon has been shown to improve the rate of fat absorption with good safety and tolerability, helping to control the symptoms of CF and enabling the patients to achieve satisfactory weight gain.

 

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