Frequently Asked Questions About Cystic Fibrosis

Frequently Asked Questions About Cystic Fibrosis

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  • Today, over 10 million Americans carry the faulty CFTR gene, most of whom are not aware that they are CF carriers
  • Cystic fibrosis usually can be diagnosed during infancy or as early as birth
  • This genetic disease is incurable. The treatment options available are meant to manage the illness and prevent it from worsening and causing complications

Q: How is cystic fibrosis inherited?

A: Cystic fibrosis occurs because of a faulty gene known as the “cystic fibrosis transmembrane conductance regulator” gene, or CFTR gene, which is passed down by parents to a child. Today, over 10 million Americans carry this faulty gene, most of whom are not aware that they are CF carriers.

If both of your parents carry the faulty CFTR gene and you inherit it, there’s a chance that you will have cystic fibrosis, even if your parents do not have the illness. This is called an autosomal recessive inheritance pattern. Learn more on how this disease is passed on in the Cystic Fibrosis Causes page.

Q: When is cystic fibrosis usually diagnosed?

A: Cystic fibrosis usually can be diagnosed during infancy or as early as birth. Signs of CF in babies include having a salty taste on the skin and not passing stool after being born. It can also be identified via the newborn screening test.

In some cases, especially for parents who are aware that they both have the faulty gene, cystic fibrosis can be identified before the baby is born, through prenatal screening tests like Chorionic villus sampling and amniocentesis. However, there are people who do not show signs of cystic fibrosis until after they hit puberty or during adulthood. Over time, their condition can either get better or progress into something much worse.

Q: How is cystic fibrosis diagnosed?

A: Diagnosing for cystic fibrosis is usually done during infancy, through a newborn screening test. A genetic test will determine if the infant has faulty genes, while a blood test will see whether the child’s pancreas is properly functioning.

If either genetic tests or blood tests suggest this condition, the physician will confirm the diagnosis through a sweat test, wherein the amount of salt in sweat is measured. It is done by triggering sweating on a small patch of skin by rubbing it with a sweat-producing chemical, and then using an electrode to provide a mild electrical current. The sweat is then collected and analyzed. Sweat tests are usually done twice, and if the levels are consistently high, then it means that the person has cystic fibrosis.1

Q: What is the usual life expectancy or life span of cystic fibrosis patients?

A: The National Institutes of Health says that in the U.S., the current average life expectancy for patients with this disease is about 37 years.2 This is a significant improvement compared to earlier years, when patients usually died in infancy or childhood.

Today, because of treatment options and better understanding of the illness, the life expectancy has significantly risen, with people living into their 30s, 40s, 50 and even beyond.3 However, the life expectancy of this disease still depends on its severity and type of gene mutation the person has. The age of diagnosis may also be a factor, which is why diagnosing this illness as soon as possible is essential.

Q: How is cystic fibrosis treated?

A: Sadly, this genetic disease is incurable. The treatment options available are meant to manage the illness and prevent it from worsening and causing complications. Techniques are focused on relieving the symptoms, reducing mucus production and expelling it from the lungs and preventing infections from occurring. Read about the treatment options for cystic fibrosis.

MORE ABOUT CYSTIC FIBROSIS

Cystic Fibrosis: Introduction

What Is Cystic Fibrosis?

Cystic Fibrosis Symptoms

Cystic Fibrosis Causes

Cystic Fibrosis Treatment

Cystic Fibrosis Prevention

Cystic Fibrosis Diet

Cystic Fibrosis FAQ


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