Newborn Screening in the US: a mother’s story about how to improve a whole system
Some time ago, in one of my posts I noted that I was looking for a newborn screening specialist. Then I got a letter from a mother of a boy with MCAD (medium chain acyl CoA dehydrogenase defect) from Texas and I had to realize how incredible story she had. Laura Clow who is also a member of www.savebabies.org website, kindly answered my questions.
- Please tell us the story of your boy! How was he diagnosed with medium chain acyl CoA dehydrogenase defect?
Brickman was a full-term, seemingly perfect, healthy baby & toddler, hitting every developmental milestone ahead of schedule. When he was 19 months old, he became ill with a stomach virus. He went 18 hours without food because of the illness. He began having seizures and slipped into a coma. The doctors at the E.R. could not determine what was wrong. His lab-work (which took 3 hours to receive) from the hospital revealed that his glucose level was 7 in the blood and 2 in the spinal fluid. When this was discovered, we were in a critical care ambulance in transport to a children’s hospital in Dallas. The paramedic put glucose into his circulation immediately.
He remained in the coma for 15 hours, was in a Pediatric Intensive Care Unit unit for 2 days and stayed in the hospital for 6 more days. Lab tests were sent to Duke University and it was determined that he had MCAD. My husband and I had genetic testing and he has the most common MCAD mutation and I have one that had not been discovered until that time. We then learned that other states in the USA routinely screened for MCAD in the newborn screening panel and that we could have ordered the test for only $25.00 at the time of his birth if we had only known about it. By the grace of God, Brickman did not suffer any long-term consequences from the metabolic crisis.
- You told me that your family has been very active promoting awareness of supplemental newborn screening. You even went to the state capitol and testified in front of the Health & Human Services Committee. Why did you do that and what are the results?
When I learned that the state lines in which we lived prevented us from knowing about his condition at birth and that we could have paid $25.00 for a supplemental screening test, I was mad, but determined to make a difference for others. I joined two support groups (www.fodsupport.org and www.savebabies.org ) and met many families whose children had died or suffered permanent brain damage from undiagnosed metabolic conditions. I did not want another family to have to endure a tragic experience because of lack of proper newborn screening. Educating others about newborn screening became my passion.
I have worked at many trade show booths, baby fairs, spoken to Mom’s groups, midwife groups and doctors to promote awareness of expanded newborn screening. I would stop pregnant women in the grocery store and tell them about it. I also gave supplemental newborn screening kits with a check for $25.00 to many of my friends.
One day, I contacted my State Representative to express concern about lack of proper newborn screening in Texas. About that same time, the March of Dimes was pushing for states to expand newborn screening programs across the USA. We teamed up with the March of Dimes when Texas was considering expansion of their program in April of 2005. We traveled to the State Capitol and testified in front of the Health & Human Services Committee. There were several other affected Texas families there as well. The proposals passed the House and the Senate, but the expanded screening did not actually begin until December 2006. Texas now screens newborns for 27 inherited disorders – 19 more than before.
- What are your plans for the near future?
Great Question! I wish I knew the answer! I am looking for a job for the fall because my youngest child will start Kindergarten. I was an elementary school teacher before I had children, and I would like to teach again or work in the field of expanded newborn screening.
- How does savebabies.org works?
The Save Babies Through Screening Foundation is a non-profit, volunteer-run foundation which exists to promote awareness and educate others about expanded newborn screening. The website has many links to the 50 USA state newborn screening programs, information about how to obtain a supplemental screening kit, family stories and more. They also have an email list where families can seek support from others and share information.
I’m totally amazed by the work and enthusiasm of Laura Clow. It became true that mothers like her can improve even a whole system.