5 things you should know about cystic fibrosis
Dr Carla Els shares what you should know about cystic fibrosis, how it can be detected and how it can be treated.
Did you know that 6 May is Cystic Fibrosis Awareness Day? You may have heard about cystic fibrosis or perhaps you know someone who's been diagnosed with it. But what is cystic fibrosis all about?
Dr Carla Els, who specialises as a paediatric pulmonologist in Johannesburg, explains cystic fibrosis.1. When is the earliest that cystic fibrosis can be detected?
Cystic fibrosis can be detected as early as 12 - 14weeks of gestation
, if the parents are aware the genetic mutation, with amniocentesis or chorionic villi biopsy. Newborn screening is also an option and some private hospitals do offer this.
Usually it is detected later because the family isn't aware of the fact that they might be carriers of the disease. Needless to say the children end up with frequent hospitalisations and they don't gain weight.2. In which age groups is cystic fibrosis most prevalent?
Cystic fibrosis was previously a paediatric disease but improved diagnostics means that it is now being detected in any age group. Also, due to improved medication, the life expectancy of patients has also increased.3. What are the first signs of cystic fibrosis that parents can look out for?
- As a newborn, there could be a delay in the passing of meconium (the earliest stools of an infant).
- Persistent coughing with thick mucus.
- Excessive appetite combined with weight loss and failure to thrive.
- Bowel disturbances - oily/fatty, really smelly stools that float and struggle to flush away, gallstones or liver disease.
- Unusually salty skin.
- Repeated bouts of respiratory infections with pneumonia.4. Can cystic fibrosis be treated?
It is a life long disease, but the sooner it is diagnosed the better the outcome. The symptoms can definitely be treated. Life expectancy in South Africa is approximately 35 years.5. Who can treat cystic fibrosis?
Preferably a pulmonologist or doctors who have experience with cystic fibrosis. There are also centres specializing specifically in cystic fibrosis.
If you want to know more about cystic fibrosis, who you can contact or how you can help, visit The South African Cystic Fibrosis Association's website or Facebook group. They also have a guide to coping with cystic fibrosis for kids.Do you or a family member have cystic fibrosis? Share your story with us below.