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Storytelling: Deadly Delays

For the past 50 years, a simple blood test taken in a baby's first few days of life has revealed if a child has a hidden genetic flaw, allowing infants to get the lifesaving treatment they need before damage can occur.  

The success of the newborn screening program relies on how quickly the tests are processed. This story shows two families impacted by processing delays, and one family whose child was saved after new procedures were put into place. 

  • Newborn baby Sophia Elm's heel is pricked and her blood sample is placed on a filter paper for the Wisconsin state newborn screen, at Wheaton Franciscan Healthcare – St. Joseph Campus. The newborn screen identifies genetic and metabolic disorders quickly, allowing for early treatment and care to minimize brain damage and avoid a major health crisis. Speed is of the essence, and in order to ensure the earliest outcomes, hospitals must collect the samples and deliver samples within a timely manner. A delay of even one day could be the difference between life and death for a child with a metabolic disorder.
  • Samples are processed at a central laboratory in each state. Of critical importance is that the screening samples arrive at the labs in a timely manner. Nearly three-quarters of the states require hospitals to deliver samples to a lab via overnight or courier services, but some use the U.S. Postal Service's regular mail. Karen Kennedy-Parker, supervisor of the newborn screening lab reviews hemoglobin screening gels for abnormal results. The Wisconsin lab processed over 60,000 screens in 2012.
  • A delay of even a few days can make a life or death difference for a child with a metabolic disorder. Colton Hidde, then nine-months-old, lies unmoving on family's New London home. The New London hospital where Colton was born did not follow state guidelines and forward his blood sample to the state lab within 24 hours of drawing it.
  • Colton's mother Karen looks at a photo album from his first weeks of life, filled with heartbreaking photos of a very ill child. Less than a day after being discharged from the hospital following his birth, Colton was lethargic and blood began pouring from his nose. His heart stopped and his body was flooded with toxic ammonia levels. Doctor's didn't think Colton could survive, but tried a cooling technique to protect his brain and heart while he underwent dialysis. Had the hospital followed procedure, Colton's metabolic disorder could have been diagnosed before it threatened his life.
  • As the doctor's visit stretches into it's second hour, Colton falls asleep on his father Michael Hidde's shoulder at Children's Hospital of Wisconsin in Wauwatosa, August 13, 2013. Colton spent all day at the hospital, meeting with different specialists, including Dr. David Dimmock, a medical geneticist (left), genetic counselor Amy White (center left) and dietician Kari De Fouw. About half of children with ammonia levels as high as Colton's were, die. Of the other half, about 2/3 of them have severe neurological problems.
  • As a result of the extremely high ammonia levels Colton's brain was exposed to, he has an undetermined amount of brain damage. Karen Hidde holds back tears as she asks Dr. David Dimmock whether Colton will be able to walk, during a routine visit at Children's Hospital of Wisconsin in Wauwatosa. Dimmock responded that he believed they should begin therapy to try and help Colton become the best he could be. He did not answer her question about whether Colton would ever be able to walk.
  • Instead of mailing out Colton's newborn screen promptly, the New London hospital where he was born held his sample for four days, mailing it in with a group of others. This is known as {quote}batching{quote} and is a highly dangerous practice which is greatly discouraged. Those four days could have made a difference to Colton, allowing him to get the care he needed. {quote}It could have been prevented had the right testing been done at the right times,{quote} says his mother Karen. Colton works with occupational therapist Lisa LaCoursiere (left) as Karen encourages him. He also receives physical and speech therapies to help him move toward age-appropriate markers. {quote}We don't know what is in store for Colton. All we can do is be happy for what he is doing and keep putting for the effort to help him be the best he can be,{quote} says Karen.
  • Aside from delays in getting screens to the labs, sometimes lab hours themselves can cause a delay. Labs in half the country are closed on weekends and holidays which means children born later in the week will have delayed test results. This was the case for Sarah Wilkerson's son Noah, who died at the age of five days old with an undiagnosed metabolic disorder in 2009. She touches the engraved memorial tile bearing her son's name as she visits the Rowan Tree Foundation Angel Memorial Plaza in Parker, Colorado.
  • Noah died of a condition known as MCAD and is 90% treatable. The only way to identify the disorder is through the newborn screen. The However, Noah was born on a Friday and the Colorado state lab, like more than half of the labs in the United States, do no process screens on the weekend. The Wilkersons were not notified that Noah had a genetic disorder until the day after his death. {quote}A day too late for us to try do do anything to save his life,{quote} says Sarah. She and her husband Chris hug after visiting their son's memorial in October.
  • After Noah died, his bedroom remained closed for about a year until Sarah and her husband were expecting a second child. When they repainted, they kept one of the bees painted on the wall from when it was Noah's room, and put a frame around it. {quote}We had to keep a little bit of Noah here,{quote} says Sarah.
  • A day could have made a difference in Noah's life. In the wake of their child's death, the Wilkersons advocated for change. The state of Colorado has made modifications that help process screens faster. However, they still do not process samples that come in on weekends. {quote}The weekend hours for the state lab require funding,{quote} says Sarah. {quote}How do you dare put a price on my child's life by saying...can't afford it, sorry. It simply is something that has to be done.{quote} The Wilkerson's had a second child, Aaron, and his test was promptly processed.
  • The changes to Colorado's screening process have made a difference for the Kelly family, who's son was born with the same metabolic disorder that Noah had died of three years earlier. Because of changes to the process, the family was notified three days after baby Kelly was born, plenty of time for him to receive the treatment he needed. {quote}Rapid newborn screening absolutely saved his life that night. I am 100% convinced of that,{quote} says his mother Kay.
  • Colton Hidde arrived at Children’s Hospital of Wisconsin near death, with high ammonia levels in his blood. Doctors initially wrestled with whether he could be saved. it was a crisis that could have been avoided.
  • A simple blood test called the newborn screen is given to every child born in hospitals in the country. This test, created 50 years ago, allows medical professionals to find possible hidden genetic flaws in the first days of a child's life. These disorders can often be treated if caught early enough.  The success of the newborn screening program depends on how quickly the tests can be done. A delay of even one day can make the difference between life and death for these children. In Colorado, two children were born with the same genetic disorder, but had very different outcomes.
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