My interest in newborn screening dates back 18 years to the birth of my second son, Jordan, on November 18, 1989. While he initially appeared healthy, by 5 days of age, he was very fussy and nursing poorly. After being treated for colic and showing no signs of improvement, he was admitted to Columbus Children’s Hospital at 7 days of life. Jordan’s condition gradually deteriorated from fussiness to seizure-like activity, abnormal breathing, and eventually coma. Many tests, including a spinal tap, and CAT Scan were done to determine a diagnosis without success. At 15 days of age, a geneticist informed us that Jordan was likely suffering from a metabolic disorder. After 2 more days of blood tests Jordan was eventually diagnosed with Classic Maple Syrup Urine Disease. (Incidentally, his urine did not smell like maple syrup as a newborn and has only smelled sweet several times when he was very ill.) He was 17 days of age. We were informed that Jordan probably suffered significant brain damage because of the late diagnosis. He spent several more weeks at Children’s Hospital and was eventually discharged at 6 weeks of age.
Like many of you, my husband Dave and I were consumed with learning how to care for Jordan during his first year of life. Fortunately, Jordan did not experience any metabolic episodes requiring hospitalization. When Jordan was 3 years old, we changed clinics and began seeing a metabolic specialist at the University of Michigan. During his toddler years, Jordan had several hospitalizations due to metabolic crisis from illness. At a U of M metabolic conference, we met several MSUD families. I was surprised to learn that Michigan screened all newborns for MSUD and had been for several years. After further research, I learned that 20 states were screening for MSUD when Jordan was born in 1989, while Ohio was only screening for 5 disorders, including PKU, Galactosemia, Congenital Hypothyroidism, Homocystinuria, and Sickle Cell Disease. For the first time since his diagnosis, I became very angry that Jordan suffered needlessly as a result of lack of screening for MSUD in Ohio.
History of Newborn Screening
Robert Guthrie, a microbiologist and pediatrician at State University of New York, Buffalo, had a personal interest in mental retardation as his son suffered from it. Dr. Guthrie recognized that mental retardation was sometimes the result of late diagnosed PKU. In 1958, he developed a simple, inexpensive test for PKU that required only a few drops of blood. Coincidently, Dr. Guthrie’s wife’s sister had a baby who was diagnosed with PKU at 15 months of age, at which point brain damage had already occurred. Dr. Guthrie became convinced that universal screening for PKU was needed and that this could be accomplished inexpensively. He began a national lecture and writing campaign about PKU and Newborn Screening. Eventually, he was given a grant to test 400,000 infants from 29 states. This study confirmed that it was possible to perform large scale testing. In 1963, a pediatric journal published Dr. Guthrie’s results and parents began demanding testing for PKU. In 1963, Massachusetts became the first state to mandate PKU screening for all newborns. By 1966, a majority of states mandated testing for PKU and today all states screen for the disorder. Dr. Guthrie then turned his attention to other treatable disorders and developed tests for conditions that could be diagnosed in a newborn screening program. Sadly, Dr, Guthrie, also known as the "Father of Newborn Screening" passed away in 1995.
Ohio Newborn Screening Expansion
After learning that a screening test for MSUD in the newborn period existed and that it was mandated in other states, I began a personal campaign to see that all Ohio newborns would be screened. Initially, I met with roadblocks. A common remark that I heard was, "Mrs. Bulcher, Ohio will not screen for MSUD, because it is too rare." It didn’t take me long to realize that there is strength in numbers. I assembled a group of metabolic parents and we named our organization, Ohio Coalition for PKU and Allied Disorders. After meeting other Ohio parents and learning about their children’s disorders, my vision expanded from adding MSUD to the Ohio panel to all disorders detectable through newborn screening. Our mission to expand newborn screening in Ohio was facilitated by the addition of new technology for newborn screening, called tandem mass spectrometry (MS/MS). Prior to this, each condition required a separate test. For example, if a state tested for 8 conditions there were 8 tests. The tandem mass spectrometer allowed a state to screen for 30 disorders or more with one test. A breakthrough in our efforts to expand screening occurred in 2000 after a few parents and I met with the Ohio Director of Public Health. Our group then testified about the importance of newborn screening before the House Health Committee. Hearing the stories of Ohio children who had suffered as a result of lack of screening and meeting them personally made a huge impact on Ohio legislators, and newborn screening in Ohio began to move forward. At that time, I was also asked to serve as the parent advocate on the Ohio Newborn Screening Advisory Council. MSUD was added to the Ohio Newborn Screening panel in 2001, and today Ohio screens for 32 diseases.
Expansion of Newborn Screening Nationally
From the 1960’s to the 1990’s, most states screened for PKU and Congenital Hypothyroidism, along with a few other disorders. The panel of disorders varied from state to state. Decisions for adding or removing disorders in the newborn screening panel involved many complex social, ethical, and political issues. In addition, most states required that diseases meet certain criteria to be added to the panel including disorder prevalence, detectability, treatment availability, outcome, and overall cost effectiveness. In the late 90’s and early 2000’s, many states were experiencing rapid expansion of their newborn screening programs after obtaining MS/MS equipment. Similar to the PKU parents of the 1960’s, metabolic parents became very vocal about newborn screening at this time. Several national parent organizations formed including the National Coalition for PKU and Allied Disorders and Save Babies Through Screening with a mission to improve newborn screening. Parents shared their tragic stories resulting from lack of screening, and stories of positive outcomes as a result of screening, with local and national media.
Newborn screening began to move forward on a national level. The Maternal Child and Health Bureau began funding activities to strengthen and expand newborn screening programs. One of these projects is the Regional Genetics Collaborative. The goal of the Collaborative is for states to work together, learn from each other, and improve and equalize their newborn screening programs. In 2004, the American College of Medical Genetics (ACMG) recommended that all states screen for 29 treatable congenital conditions including MSUD. The March of Dimes has become increasingly interested in newborn screening and endorsed the ACMG recommendations of uniform screening.
Thankfully, there have been enormous improvements in newborn screening in the last 10 years. Ohio now screens for 32 diseases. Some states screen for more than 40. However, there still is not uniformity, because expansion ultimately depends on funding which varies from state to state. Despite all of the progress in newborn screening, not every state in the US tests for MSUD. According to the March of Dimes website, 44 states and the District of Columbia screen for MSUD. This equates to 95% of the 4 million babies born in the US each year being screened for MSUD. In 5 states, (Montana, Kansas, Oklahoma, Arkansas, and West Virginia) testing for MSUD is required, but the programs have not yet been implemented. Nebraska is the only state that has no law requiring MSUD screening or any MSUD screening program in place. There is still much work to be done. As new diseases are identified and new technologies are developed to diagnose more diseases, newborn screening programs will continue to expand.
Our family has been blessed in many ways. Jordan never suffered any brain damage in the newborn period, contrary to what we were originally told. He is a high school senior and has been active in the marching band and tennis team. Next fall, Jordan will be experiencing a new phase of life: college. He’ll be attending one of several good schools in the Columbus, Ohio area. I’ve been blessed also, because I’ve been able to share my interest and passion for newborn screening with others. After working as a nurse in various fields of adult medicine for 25 years, I accepted a position as the newborn screening coordinator at Nationwide Children’s Hospital in Columbus this past October. I am grateful to have the opportunity to educate others about the importance of newborn screening.
- Written by Sandy Bulcher
- Category: Volume 25-1