My friend had a little girl 2 weeks ago and today @ her 2 week check up she was told that the CF test they do in the hospital @ birth came back positive and they are re-testing and she will have results in 3 weeks. They also told her there is a high “false positive” rate.
Has anyone heard of this?
I am a CF carrier, and had to go to genetic counseling when my husband and I were in infertility treatment (he ended up not being a carrier) and never heard of this screen on infants…do they do it to them all? Are there false positives?? I just want to ease her mind.

Cystic fibrosis is one of the most common conditions that are inherited. The glands that produce secretions and body fluids get affected with this condition and the secretions become thicker and stickier than what they should be normally. Because of this the functions of the digestive system and the lungs get hampered. Cystic fibrosis is brought on by an inherited gene which is faulty and is found on the chromosome 7. This gene controls the water and salt movement in the cells in the body. For a child to develop this problem the gene has to be inherited by it from both the parents and it is an autosomal recessive form of inheritance.

The symptoms of this disease are infertility, liver failure, diabetes, motions which are large and foul smelling and frequent chest infections which are severe. Though mortality is high, the average life of a child affected with this is around forty years of age.

Research is being conducted on the faulty gene and work is being done to find ways of either replacing or repairing this gene with gene therapy. However, there is no cure for this problem as yet and neither is there any way in which it can be prevented. Babies are being screened for it as soon as they are born and even antenatal tests are available for this dreaded problem.
Treatment should be given to those affected with this problem immediately so as to prevent too much damage being done to the system. This can help people to achieve fairly comfortable lives and live with this disease. Once the infection is controlled and there is no chance of further complications setting in, long term harm can be avoided.

A proper diet and healthy life style is very essential in promoting good health amongst those who are suffering with cystic fibrosis. Foods which should be consumed are the high energy ones, and additional mineral and vitamin supplements should be added to the diet. Alongside a good diet the person requires exercise to maintain their health and fitness. Another important part of treatment and therapy is breathing exercise and physiotherapy so that the build up of excess mucus is prevented in the lungs.

In case of inflammations and infections in the lungs, antibiotics and other forms of medications are given to the patient to control the infection. A lung transplant becomes necessary if there is respiratory failure.

By: Tom Chuong

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