Magazine article The Exceptional Parent

50 Years of Newborn Screening: Celebrating the Role of Parents

Magazine article The Exceptional Parent

50 Years of Newborn Screening: Celebrating the Role of Parents

Article excerpt

As we have moved from the development of the first PKU test in Guthrie's laboratory to the passage of the Newborn Screening Saves Lives Act in our nation's capital, the advancements have been innumerable and will only continue. We can attribute these improvements to science and policy development, but the real fire beneath has come from parents.

It is no secret that parents are major change makers and advocates in the world of childhood disorders. They are the strongest source of motivation for improvement in the detection of disease, treatment, and overall quality of life for affected children because they face these disorders every day. They unceasingly strive for the betterment of their children's lives, though it is against tougher odds. In the specific case of newborn screening, there is no exception. As we celebrate the 50th anniversary of mandated newborn screening, we must look back and remember the milestones that have brought us to the system that is in place today, and recognize the critical role that parents have played in each of these milestones. It has been the efforts of parent-led websites, letters to congress, participation in legislative discussion, committee membership, fundraising, advocacy organizations, and simple story-telling that have been some of the most vital elements for the development of newborn screening to become the thriving, successful program that it is today.

THE SCIENCE

Let us look back to the 1960s, a time when the first major milestone in newborn screening began through the work of scientist and researcher, Dr. Robert Guthrie. During these years, Guthrie worked to develop a test that would determine, from a small sample of blood, whether or not a child has the genetic metabolic disorder, phenylketonuria, or PKU. Children with PKU who are not treated, face intellectual disabilities. However, if their diet is altered at an early age, they can develop at the typical rate of children their age and lead healthy lives. Guthrie also introduced a system for collecting and transporting blood samples on filter paper for the test, opening doors for widespread genetic testing. These discoveries paved the way for the types of newborn screening systems that we see today. Guthrie published his findings in 1963 under the title, A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants.

Though this part of the story is rather widely known, a lesser-known fact has to do with Guthrie's personal life. A large motivation for his work was the birth of his second son John, who was born in 1947 and was intellectually disabled. After the birth of his son, Guthrie decided to study the sources of mental disabilities in order to work towards prevention. In 1958, his 15-month-old niece received a diagnosis of PKU, bringing him to recognize and focus on the treatable causes of intellectual disabilities. Right from the beginning, a parent scientist was the spark for the development of newborn screening.

THE POLITICS

The next milestone came through the implementation of a formal program for newborn screening in the state of Massachusetts. Though the PKU test that Guthrie had developed undoubtedly worked, it was difficult, at first, to convince state public health departments to adopt an official program for screening. States believed that PKU was too infrequent to screen for in all children. At a convention, Guthrie met a Dr. McCreedy, who was also a parent of a child with an intellectual disability. Guthrie shared his PKU research with Dr. McCreedy, who immediately saw the value of the tests. Dr. McCreedy went on to establish screening in Massachusetts, thus, the first state mandated newborn screening program for PKU. As this initial program produced more research, it provided remarkable results. However, there were still difficulties getting other states to initiate programs, and, once again, parents stepped in. …

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