Frequently Asked Questions about Cystic Fibrosis

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Last Updated on Feb 19, 2020
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Frequently Asked Questions about Cystic Fibrosis

1. Which doctor should I consult if my child has symptoms of cystic fibrosis such as recurrent infections, and failure to thrive?

You need to consult your family physician or a general physician. Your child will need further investigation and testing to rule out cystic fibrosis.

2. Does cystic fibrosis have a cure?

Presently there is no cure for cystic fibrosis. Treatment aims at reducing complications and improving the quality of life for the patient.

Research is going on in gene therapy where scientists are hoping to be able to replace the defective gene with a normal gene. If it succeeds, it may well be the long awaited cure for CF.

3. Is cystic fibrosis a common condition?

The prevalence is variable amongst different populations. It is highest in the European and American populations with an incidence of approximately 1 in 3000. The incidence is much lower in African and Asian population with around 1 in 30000.

4. Is it possible to have a child suffering from CF although all my other children are healthy?

Yes. If both you and your partner are carriers of the CFTR gene, there is a 25% chance of having a child affected by the disease. Before planning a pregnancy, you can get yourselves genetically tested.

5. Will persons with CF have a normal lifespan?

Recent statistics have shown that survival has markedly improved in CF approaching 55 60 years. Advances in treatment and patient care have contributed to this.

6. Why is there clubbing in CF patients?

Clubbing is the swelling of finger and toe tips and it happens in these patients due to inadequate blood supply to the lungs.

7. Why do cystic fibrosis patients suffer from rectal prolapse?

Rectal prolapse occurs when a portion of the rectum comes outside through the anus and is visible outside. And this happens due to excessive coughing in these patients.

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As the above article mentions, cystic fibrosis is an autosomal recessive disease and testing for carrier status has been available, but screening policies differ widely. An interesting screening study between neighboring towns in Italy was reported recently. This study reports on a natural experiment which arose in north eastern Italy when Veneto adopted a conservative carrier testing policy while next door in the Padua area, much wider testing was carried out. In both regions babies are also tested for CF at birth, and in the Padua area there were half as many as in the Veneto area. In other words, couples do make reproductive choices based on their carrier status.
http://jama.ama-assn.org

Cystic fibrosis in India is rare. Also there is less awareness among medical staff. Apparently frequency of common mutation F508del in Indian children is between 19% and 34%. The cystic fibrosis wordlwide is willing to fund projects for two years in India. There is an appeal on thier site - just google cystic fibrosis wordlwide india and see the response.

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