Many Newborns Now Tested for Genetic Diseases Just Moments After Birth
July 11, 2006 — -- Early one morning 19 years ago, Debbie Houk was writing Christmas cards when her husband asked if she had checked on their two young daughters, who both had upset stomachs the day before.
Not yet, she told him, so he walked down the hall of their Arizona home to check on them.
Then came the moment she will never forget.
"He was screaming, running down the hall, and our daughter was limp and blue," said Houk, a nurse. "I knew she was dead."
They had no idea at the time, but their daughter had died in the middle of the night from a rare inheritable disease that inhibited her body's ability to break down the fats in food.
Back then, there was no real way to detect the disorder, known as medium chain Acyl-Co-A dehydrogenase deficiency, or MCADD for short.
But today, the technology now exists to screen for MCADD and other similar genetic disorders using just a few drops of blood taken from a newborn baby. The screening makes it possible for any baby born with one of the diseases to start treatment right away, before symptoms start.
So, parents like Debbie Houk, along with the March of Dimes, have launched a multi-year effort to make sure that state public health agencies adopt newborn screening policies. To highlight this effort, they release an annual "screening report card" showing which states screen for the diseases.
To check on your state's program, click here MAP of state screening programs.
The report card appears to be a successful way to get states to pay attention: Last year, only 23 states screened for the disease. This year, 31 states do, and within the next several years, the March of Dimes expects that every state will screen for at least some of the diseases, said president Dr. Jennifer Howse.
While there are numerous rare genetic diseases that can be passed along unknowingly by parents, the 28 that are included in the screening panel were all selected because they can be easily detected in a newborn via a blood test, and because there are proven treatments that exist to help the child, Howse said. The March of Dimes also asks that states include a hearing exam for newborns as well.
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