Kennedy H

What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited disease that primarily affects the outward-secreting (exocrine) glands. These glands make mucus, fluids involved in digestion, and sweat. Cystic fibrosis in children can cause:

• Respiratory problems: An accumulation of thick, sticky mucus in the lungs and sinuses can cause chronic respiratory issues such as coughing, wheezing, or difficulty breathing.
• Digestive problems: The exocrine glands in your digestive system normally produce digestive enzymes and fluids to help with the digestion of food and absorption of nutrients. In cystic fibrosis, those secretions have the wrong composition and can become too thick and sticky, resulting in poor digestion.
• Malnutrition: Food may not be properly absorbed in the intestines (malabsorption), which can lead to poor growth and malnutrition.
• Reproductive problems: These issues are more common in boys, and may lead to decreased fertility.

Cystic fibrosis affects the sweat glands in a different way. The sweat does not become thick, but instead contains high levels of salt, resulting in salty skin.

While cystic fibrosis is a chronic, progressive disease, improved treatments have significantly extended life expectancy for children with the condition. Approximately 2,500 babies are born with the disorder each year in the United States, and over half of the almost 30,000 people in the U.S. living with CF are adults. The average age of survival has steadily increased over the years and is presently around 44 years of age.

CF occurs more commonly in Caucasians who have a northern European heredity, but also occurs in Hispanics, African-Americans, Asian Americans, and American Indians.

Causes

Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane regulator (CFTR) gene, one of thousands of genes found in the DNA in every person. The CFTR gene produces the CFTR protein, which controls the flow of water and certain salts in and out of the body’s cells. If the CFTR gene has a mutation that causes the protein to not work, this changes the movement of salt and water in and out of cells and results in thickened mucus throughout the body.

Cystic fibrosis is an autosomal recessive genetic disorder. That means both parents must have a mutation of the CFTR gene for a child to be born with the disorder.
More than 10 million people in the United States are carriers of the cystic fibrosis gene. These people are typically not affected by the disease and most often don’t know they carry the gene. They can, however, pass the disorder on to their children.

In most cases, children with cystic fibrosis are born to parents with no known history of the disorder. In these cases, both parents unknowingly carried the CFTR mutation and passed it on to their child during conception.

If both parents carry the CFTR mutation, they have a 1 in 4 chance of having a child with cystic fibrosis, and a 1 in 2 chance of having a child who is also a carrier for the disorder.
If only one parent carries a CFTR mutation, each child born may become a cystic fibrosis carrier — and potentially pass the CFTR mutation on to his or her children — but will not have the disease.

Signs and symptoms

Cystic fibrosis symptoms in children will vary from one child to another, but may include:

• Chronic respiratory issues, such as coughing, wheezing, or difficulty breathing
• Recurrent lung infections
• Salty tasting skin (a symptom parents often notice when kissing a child)
• Meconium ileus, a thick and sticky first bowel movement of a baby that can block the small intestine
• Constipation
• Greasy, bulky and foul-smelling stools
• Poor growth and failure to thrive (not gaining enough weight after birth)

In addition to these more common symptoms, children with cystic fibrosis are at greater risk for certain infections and injuries (particularly of the lungs, sinuses, and digestive system), liver disease, pancreatitis, gallstones, diabetes, heart disease, and some birth defects.

The symptoms of cystic fibrosis may resemble other conditions or medical problems. Always consult your child’s doctor for a diagnosis.

 

ABOUT THE ARMER FOUNDATION FOR KIDS:
Founded by Jennifer and Matt Armer in 2019, the Armer Foundation For Kids (a 501(c)(3) 84-2327428) works to reduce
financial barriers for families so that they can care for their children with chronic or life-altering diseases that can often
lead to unforeseen financial burdens. For more information and to see the children for which they are currently
fundraising, visit www.armerfoundation.org.