The journey of a thousand miles begins with one step.Laozi (renown philosopher)
I appreciate this sentiment more each day as I continue on my life’s journey, which is full of experiences, challenges, and lifelong perseverance that coincide with my work in newborn screening.
My perspective on newborn screening is shaped by my three-fold and fully integrated identity as a sibling, a parent, and a health care professional. My sister, who is my only sibling, has the hemoglobin SS form of the sickle cell disease. She was diagnosed when she was 5 years old. After several doctor visits and admissions to the hospital for fever, debilitating pain and persistent jaundice, she was finally diagnosed by a hematologist. This was in 1975. It was not until 1988 that sickle cell screening was added to the newborn screening panel in Tennessee. Growing up with a sister with sickle cell disease can be scary, heart breaking and uncertain at times.
I remember my parents bought a set of World Book Encyclopedias for my sister and I. Being the older sister, she would always read to me. Shortly after we received our new encyclopedias, my sister decided to look up the meaning of sickle cell disease. Once she found it, she started reading the meaning out loud. I remember hearing her voice lower with sadness as she came to the end of the passage, which stated, “people with sickle cell disease don’t live past the age of twenty.” This broke my heart into a thousand pieces. I quickly told her, “you won’t die, I will save you!” I still remember when my sister staid in hospitals for 1–2 weeks at a time during one of her pain crises. When my parents took me to visit her, I remember seeing the smile on her face as some of her favorite nurses came into the room to take her temperature, give her an IV, or check on her pain levels. This is when I decided I wanted to become a nurse.
I obtained my Bachelor of Science in Nursing (BSN) from Tennessee State University. In 1998, while in nursing school at Nashville, TN, I went to Meharry Medical Center for sickle cell screening. Results revealed that I was a carrier. After graduating from the BSN program, I worked for a few months as a bedside nurse. In 2002, I enrolled in the master’s program at University of TN Health Science Center and later became a Family Nurse Practitioner. In 2005, I was offered a position as the first Nurse Practitioner in Genetics at a local children’s hospital. Later in 2005, I gave birth to my son. He was screened for sickle cell disease and found to be a sickle cell trait carrier. This formed my foundation for newborn screening.
Due to the knowledge gap about newborn screening among neonatal nurses, I created an educational program called Connecting the Dots: Newborn Screening. The purpose of this educational intervention is to provide nurses with a better understanding of newborn screening procedures, and laws and goals governing the screening process. This intervention ultimately improves nurses’ ability to provide timely and appropriate screening processes for babies in the neonatal unit and improved parents’ understanding of why newborn screening is done and why it is very important.
Seeing my sister stay strong, despite all of the hardship, disappointments, and pain she faced, gave me the drive to become a caring and competent health care professional. Today, my dear sister is 45 years old, married and has a bachelors in Business Administration, masters in Psychology and is currently pursuing a masters degree in Clinical Mental Health Behavioral Counseling.
Today, I am leading the charge to standardize genetics education for health care providers on the job and during training. When health care providers are comfortable with the information, the natural progression of the teaching paradigm is extended to patients and families as well. I will not stop teaching, advocating for awareness, and promoting social engagement around newborn screening until every parent, expecting parent, legal guardian and health care professional knows exactly what newborn screening is and why it is important.
Newborn screening has significantly changed my life from being a sister to a sickle cell patient whose disease was not detected at birth to being the mother of a sickle cell trait carrier whose trait was detected through newborn screening, and finally to working with nurses and doctors who perform newborn screening on a daily basis. Today and for many years to come, I want parents and families to understand what newborn screening is and why it is important and to make sure they discuss newborn screening with their doctors! September is Newborn Screening and Sickle Cell Awareness month. Let’s continue Connecting the Dots… one heel stick at a time!
What everyone should know about newborn screening:
· Newborn screening is an important public health initiative for ALL newborns
· Newborn screening is ideally performed 24–48 hours after birth.
· Newborn screening is a 3-part process: a heel stick (screen for metabolic and hematologic disorders), hearing screening, and pulse oximetry (screen for heart defects).
· Newborn screening can save a life!