National Cystic Fibrosis Awareness Month
“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.
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. 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.
Right from the beginning parents have to give their children enzymes every time they eat any sort of food. They have to start doing chest therapy right away. What that means is about 30 minutes to an hour every morning, you have to do these breathing treatments. You’ll get a nebulizer that has an antibiotic, antifungal, and anti-inflammatory. You do this nebulizing treatment along with a vest that you put on your child. It hooks up to tubes and a battery-operated, or electric-operated machine. The vest inflates tightly and then vibrates rapidly and strongly for about 30 minutes. This helps loosen the mucus in the lungs.The person with CF has to learn how to cough properly. It’s call huff coughing and it gets the mucus out of their lungs. That’s about 2 hours of daily treatment. Another expectation is frequent hospitalizations. People with CF can go to the hospital because they have an infection, or they have trouble breathing. A variety of issues can happen. They may need to go into the hospital for a tune-up—an infusion of antibiotics and anti-inflammatories, and extra physical therapy and respiratory therapy. It’s a relentless, difficult and terrible disease. There is no break from it whatsoever.
FP: What about the teen years? Or is it the same?
TQ: It’s the same. It’s a genetic disease. A lot of [the difficulties] have to do to with socialization. Not everybody wants to share as a teenager that they have this disease, or that they have to do their treatment; it affects their social life. So that’s what gets hard there. And maybe you’re a teenage girl and may not want to share that you have a feeding tube. It’s just hard to comprehend.
FP: Are there any precautions in terms of hygiene or sleepovers when are they growing up?
TQ: They don’t live in a bubble, but they are more prone to catching [illnesses]. That makes CF extraordinarily isolating.
FP: Can kids with CF lead kind of active lives or play sports?
TQ: Absolutely. They can do anything that they want. We really encourage them to be active and play all sorts of sports—swimming, running especially, and football. The more movement, the better because they go back to that daily treatment and shake off the mucus. Anything they can do to help their lungs—go for it! CF makes it really hard to breathe. They need to move around and be very active.
FP: So what’s the research telling us about CF now?
TQ: So great things. There’s hope for finding a cure for CF. The Foundation is the world’s leader in research for, on and about CF. In 1989, with researchers backed by the Foundation, the defective gene was discovered and so from there, we’ve made really great progress on research, care and developing a good therapy. Now that more than half or our CF population are adults, we have a very robust drug pipeline that we have provided our community. We have three drugs on the market that actually treat the root cause, the basic defect in Cystic Fibrosis for more than half our population. Those therapies are called Kalydeco, Orkambi and Symdeko.
FP: That’s exciting.
TQ: It’s transformed the lives of thousands of people. They’ve been approved by the FDA and for the first time ever, children born today can be treated with one of these therapies. They have the possibility of a future free from hospitalization and a really complex daily care regimen.
So we have some clinical trials going on right now; they’re in Stage 3 clinical trials, for a triple drug combination. That means that 90 percent of our community will benefit as soon 2019 or 2020 we hope.
FP: You’re close to a cure?
TQ: We are on the path. We’re focused on getting to that cure, not leaving anyone behind. There are 1,700 varieties or mutations of CF. We’re going to have a treatment for 90 percent of our population, so there’s still 10 percent we can’t leave behind. We’re doing everything we can to help everyone, and we’ve started working on RNA editing. That’s showing some great promise with promising results. We’re looking at DNA replacement as well.
It’s going to be exciting. We think that we’re on track to have that ultimate cure for CF in 20 years. And we’re moving fast toward that.