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#NBSmatters: Lasting Benefits

  • September is Newborn Screening Awareness Month. We may spend a lot of time talking about saving babies, but it is also important to remember that these babies grow up. Children, adolescents, and adults continue to experience the impact of newborn screening in their everyday lives. A simple test performed at birth provides many adults the healthy lives they live today.

    Brian McPartland is 22 years old and a recent graduate of Duke University. When he was born on July 4th 1993, he was diagnosed with Cystic Fibrosis (CF). CF is a genetic condition on the Recommended Newborn Screening Panel (RUSP), which is screened for in babies within 24-48 hours of birth. Although his parents did not know at the time, they learned that they were both carriers of the mutation and had passed it down to their son. Cystic Fibrosis affects the amount and thickness of mucus produced by the body. If there is too much thick mucus being produced, it can cause major health issues, such as difficulty breathing. The early diagnosis, following newborn screening, helped his family learn about the disease and ways to stay involved with his treatments.

    Recently I had the chance to talk to Brian about his journey with CF. He was happy to share his story with the Baby’s First Test community.

    When did you start to understand CF and how it affected your life?

    My doctors did a good job sharing kid-friendly resources with me at a young age.  They would give me comics, games and videos about cartoons who struggled to breathe and show how they countered their issues.  I had a good understanding of CF by the time I reached school because I needed to visit the nurse before lunchtime so she could administer my medications.  I don’t think I’ll ever have a full understanding of how it affects my life.  Although people tell me how I should feel and how it will affect me, I have always had CF so I have nothing to compare to.  It is always difficult to know when an issue arises because of CF or because I’m a human, so I try to be mindful and cautious of what is going on with my body.

    How does CF affect your everyday life?

    Fortunately I have been relatively healthy for someone with CF, but I always have to monitor myself.  Particularly in humid weather, there are times when I am unable to perform physical activity due to shortness of breath or dehydration.  It is also part of my daily routine to find time for my treatments and remember to take my medications.

    How has treatment improved since you were young?

    When I was young, the only treatments available were two inhalers and one nebulizer treatment.  Since then, another nebulizer treatment and an inflatable, vibrating vest have been introduced.  This month, a drug heralded as a “virtual cure” for more than half of the CF population was approved by the FD

    How did you get involved with CF advocacy?

    My parents became involved with the Cystic Fibrosis Foundation soon after I was born to help fight the cause and learn more about the disease. I tagged along with them to different events. When I was in elementary school, I helped put together a 3-on-3 basketball tournament and walkathon to benefit the Foundation.

    What advocacy projects have you taken part in? How have you gotten more people involved in advocacy?

    I have been very active with advocacy projects in my entire life. This mainly consists of speaking to people about the disease and its effects on people. I have gotten more people involved in advocacy by sharing my story, the stories of others, information about the disease, and the positive direction research is headed.

    What advice would you like to give families or children diagnosed with CF?

    Take advantage of your resources and do your treatments! I can't stress how important it is to keep on top of it. I know too many healthy people who become complacent and get sick once they stop doing their treatments. Health today doesn't guarantee health tomorrow.

    What are your future goals?

    My future goal is to live a long, happy and healthy life.

    I believe this has provided a great alternative perspective to the stories that  surround newborn screening. We hear a lot of parents talk about how grateful they are for early diagnostics, but it is more rare to hear from those affected. Everyone has their own story, but all of these stories can come together and provide evidence for the benefits of newborn screening.

    To find more information about Cystic Fibrosis, visit the Baby's First Test Cystic Fibrosis condition page. To get involved with Cystic Fibrosis advocacy, visit the Cystic Fibrosis Foundation webpage at www.cff.org

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