Providers: Cystic Fibrosis Screening | Cincinnati Children's

Christopher Siracusa, MD, Associated Director, Cystic Fibrosis Center: Most babies are checked for a variety of genetic diseases and inborn errors of metabolism, and in all 50 states right now, Cystic Fibrosis is included in that."

"The first thing that's screened is the IRT, and if that is elevated, it then goes up onto screen for certain mutations. Those mutations are specific for our region and the frequency of those mutations in our population."

"Ohio currently checks for 42 different mutations of the most common, but right now, we know of over 2,000 different mutations. So, it certainly is not all-inclusive."

"Most likely, if that test is positive, it's for one mutation, and when we see an elevated IRT with one mutation, the odds of going on to actually have a diagnosis of Cystic Fibrosis is less than 10 percent."

"It is very important that that first phone call comes from the primary care provider. They already have that relationship. They have that bond. They know each other. We are strangers."

"After talking with families, we know they want a few things from this initial phone call. Number one, they want to know accurate information. Number two, they want to know what to expect next. Number three, they also want to feel supported. We do recommend that you actually have time in your schedule to talk to the families about this and be able to answer their questions. So, you don't want to do this between visits. You don't want to do this, you know, at the end of the day when you're trying to get out of there. You're really going to want to have time to talk to the families and answer their questions. We also have learned that it's probably not the best time to make this phone call on Fridays. We do know that there is anxiety associated with hearing this news. And if there's no one available to take those calls over the weekend, then anxiety can amplify. So we'd rather not make that phone call when all resources are not available, and it can always wait until Monday."

"So, the next step is to get a sweat test, and in our institution, at Cincinnati Children's, we do that around a month of age. For patients that have a positive IRT with two mutations, those patients are at a higher risk to have a diagnosis of Cystic Fibrosis, so we try to get those patients in as soon as possible."

"No matter which way you spin it, this situation is going to be stressful for families. But we can be there to help reduce that stress or help them cope with that stress."

"On our website, we have a variety of resources that are not only educational in terms of Cystic Fibrosis, but also give information about stress reduction."

"It's also important to try to dispel any unknowns. We know there's going to be an unknown of a diagnosis. But what to expect, when to expect it, who to call, who's there for help are things that families do want to hear about so they feel supported."

"Simply asking how they are for a follow-up phone call, asking them how they're doing with this information, can be extremely valuable."

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