Fredericksburg Parent

May 2018

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22 Fredericksburg Parent and Family • May 2018 Fredericksburg Parent: Tell us what cystic fibrosis is. Terri Quinan: Cystic fibrosis is a life-threatening genetic disease that affects about 30,000 children and adults in the United States and 70,000 people worldwide. Cystic fibrosis is a disease that progressively limits the ability to breathe. It actually really affects every organ in the body. FP: What is cystic fibrosis characterized by, symptom-wise? TQ: People with CF can have a variety of symptoms: Very salty-tasting skin, persistent coughing and heavy phlegm. They have frequent lung infections because there's a significant buildup of mucus in the lungs. It just traps and harbors pathogens. Where you and I can cough those things out easily, they can't. Another symptom is wheezing or shortness of breath, poor growth and weight gain in spite of a good appetite, and frequent, greasy, bulky stools. FP: Speak to the genetics of CF? TQ: It takes the parents of the child to both be carriers of a defective gene. Say I'm a carrier and my husband's a carrier. We have a 1 in 4 chance that our child will be born with cystic fibrosis. We have a 1 in 4 chance that the child born would not have CF but would be a carrier. One in 30 people are symptomless carriers of a defective CF gene in the United States. FP: I understand people with cystic fibrosis, at least the males, have reproductive difficulty. They can't reproduce. Is that correct? TQ: That is true. CF affects every organ. Most adult males are sterile or infertile and will need help if they want to have a child. It affects women as well, but not quite like the men. I do know there are women with CF who have children. FP: Are there tests to test for CF during pregnancy? TQ: Yes. Thanks to the Cystic Fibrosis Foundation there is testing. Newborn screening is done in all 50 states now. We've pushed for that. Every child in the United States that's born is tested now for CF. You can also be tested ahead of time when you're going in for your prenatal care. You can be screened for CF to see if you are a carrier of the defective gene. CYSTIC FIBROSIS: Terri Quinan, Executive Director Cystic Fibrosis Foundation - Virginia Chapter National Cystic Fibrosis Awareness Month Finding a Cure for a Genetic Nuisance "It's like breathing through a straw." That's what children and adults living with cystic fibrosis tell Terri Quinan. She's the executive director of the Cystic Fibrosis Foundation - Virginia Chapter. May is National Cystic Fibrosis Awareness Month. In this interview, Quinan talks CF and what parents need to know about this genetic disease. So if the woman finds out that she is a carrier of the CF gene they will definitely test the father to see if he's a carrier as well. FP: Beyond testing in utero, can a person be diagnosed during childhood, as a teen, or as an adult if that precaution isn't taken or missed? TQ: Definitely. Thankfully, there is early testing. When the Foundation was founded about 60 years ago, there was a lot of misdiagnosis of CF before we had the great testing and technology that we have now. People who were misdiagnosed in infancy and toddlerhood can be diagnosed later in life. We have examples of people with us in the Virginia chapter who were diagnosed at 12 and 18. We met someone who was a Brooklyn cop who moved to Richmond and was diagnosed at 45 years old. FP: Are those tests standard tests now? TQ: The newborn screening in standard in all 50 states. We really pushed for that. You need to intervene as early as possible with CF and start treating it immediately. People with CF cannot absorb any nutrients from food, and therefore can't digest any food well at all. They have to take enzymes to help process and digest their food and absorb the nutrients. That starts in infancy. If an infant has CF, parents have to buy enzymes and feed their infants enzymes in applesauce. FP: When a parent has a child with CF what can they expect during the early years? TQ: Right away they have to start doing therapy and treatments. We're really fortunate the Foundation put in to place a care system across the country that provides precise individualized treatment for people with CF. We have pediatric care centers and adult care centers. We have 120 across the country, and we have eight in Virginia. Visit to read the remainder of Terri Quinan's interview about Cystic Fibrosis.

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