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When Professional Meets Personal: A life dedicated to advancing newborn screening

  • My perspective of newborn screening is 3 fold. First I am a sibling, second I am a parent, and lastly I am healthcare professional.  My only sibling, my sister, has SS form of sickle cell disease. She was diagnosed at the age of 5 year. After several doctor visit and admissions to the hospital for fever, pain and persistent jaundice, she was finally diagnosed by a hematologist.   My parents were told that she would die by the age of 19. I remember my father telling this story when I was little and he said he was determined to fight for his daughter’s life.  This was in 1975- it was not until 1988 that sickle cell screening was added to the NBS panel in Tennessee. My dear sister is now 40 yrs old, married, and working on her master’s degree in psychology.  

    My parents were not sure if I was a carrier or not since I was born in 1976. In 1998 while in college in Nashville, TN, I went to Meharry medical center for testing and was found to be a carrier.  My now 6 year old son was picked up by NBS to have the sickle cell trait in 2005. My husband was tested prior to us conceiving and he was negative for trait-yet I still passed on my trait to my son.

    Witnessing my sister’s life affected by hardship, disappointments, and pain reinforced the value of my career path, to become a competent and caring professional.   It is my belief that caring for others is the equivalent to giving my life so that they may have life.  In essence, to care is to give life and caring is to have passion for life.  This passion is a gift and capturing this gift means transforming it into the art and skill of learning, loving, and living. Now as a Genetics Nurse Practitioner I see a growing need for newborn screening education among neonatal intensive care (NICU) nurses and families.

    A lack of Newborn Screening (NBS) knowledge among neonatal nurses in a tertiary care setting is evident by lack of educational resources available; this can translate into lack of dissemination of NBS information to our NICU parents/ families.

    These issues pose as barrier in communication among our NICU staff and our parents. I feel if we educate our nurses regarding the importance of NBS they in turn provide our parents with appropriate, informative and specific NBS information about their babies.  Therefore developing a consumer friendly educational tool to provide clear, concise information about NBS and the process as it relates to NICU families.

    As a newborn screening stakeholder and long time advocate through this opportunity to participate with Baby’s First Test, I will be able to increase NICU parents’ knowledge regarding newborn screening therefore empowering each family as I Connect the blood spot at a time.

    1 Comment

    Stacy...a beautifully written story! I look forward to meeting you and sharing your passion as part of the task force!

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