What is it?
Cystic Fibrosis (CF) is the most common serious genetic condition in Australian children today, affecting one in every 2500 babies.
CF primarily affects the lungs and digestive system. Consequently, when a person has CF their mucus glands secrete very thick sticky mucus. This mucus traps bacteria as it clogs tiny air passages in the lungs leading to infections inflammation, respiratory failure, and long term lung damage.
The pancreas, which releases enzymes that are needed to digest food is affected as well. People with CF must adjust their diet to accommodate the lack of nutrition.
There is currently no cure.
Who and how do you get it?
CF is a genetically inherited condition and the CF gene must come from both parents. It occurs in both males and females. Consequently approximately one baby ever four days is born with cystic fibrosis.
In Australia, there is an average of one in 25 people carrying the gene. Most importantly, because CF carriers show no systems they do not know they have the gene and live perfectly normal lives.
What are the symptoms?
Symptoms of cystic fibrosis vary and may include:
- Persistent coughing, with great physical effort and at times with phlegm
- Difficulty breathing and shortness of breath
- Lung infections
- Muscle cramps as a result of the salt loss
- Frequent trips to the toilet which include greasy, bulky stools
- Difficulty with bowel movements
- Poor weight gain and growth
You may have heard of the heel prick test. All newborn babies have a blood test (via heel prick) shortly after birth, called the newborn screening test. The test is used to screen for a number of conditions including cystic fibrosis.
Treatment for cystic fibrosis is highly specialised and intensive and will be required lifelong.
- chest physiotherapy to help clear the lungs
- antibiotics to treat infections
- nebuliser inhalations to help open the lungs
- take enzyme replacement capsules with food to help digestion
- Vitamins and salt supplements
- Exercise to build strength and help keep the airways clear.
Treatment is often daily and must go on around regular daily activities including school and work.
Screening for Cystic Fibrosis
Carriers are often not aware they have the genes. However, there are tests available – especially if you are planning pregnancy.
You can read more about genetic screening here and if you would like to talk further about genetic screening please make an appointment to come and see me – 0394161586.