No Story Is the Best Story

“The wonderful thing about my daughter’s story is that there is no story. Because of newborn screening…”

Honey’s daughter, Maren, was full-term and an easy delivery. She ate, slept, and made all the right noises. The doctors and nurses agreed: she was beautiful, strong and healthy. But all the time, inside Maren’s tiny body, acids and toxins were slowly building up to dangerous levels, putting her at risk of severe brain damage or even death.

Like nearly every one of the four-million babies baby born in the United States each year, Maren had her heel pricked about 24 to 48 hours after being born. Five drops of her blood were pressed onto a piece of filter paper about the size of an index card. Her card was one of hundreds sent from the hospital to the Colorado public health laboratory that day for newborn screening.

Maren

Not quite two weeks after Maren was born, Honey took her baby girl and her son to a friend’s birthday party. As 6-year-olds played and celebrated all around them, Honey got a call. It was a local doctor, but one she didn’t know. He was asked to contact her by a geneticist in Denver. Some numbers on Maren’s newborn screening were higher than normal. He wanted her to bring Maren to the children’s hospital in Denver.

The newborn screening had picked up evidence of a rare condition, propionic acidemia. Maren had been born without an essential enzyme required to break down proteins. Every kind of food, including breast milk, was like a poison to Maren. But newborn screening helped catch it in time. With treatment and a special diet, Maren would live—even thrive.

“Maren did not suffer from a metabolic stroke, which happens to most babies with her condition when they are not treated,” her mother said. “She did not require emergency life-saving measures in the first weeks of her life, as is also typical with babies who are left undiagnosed. Due to the process of newborn screening, we have not been a family in crisis, but instead, we have been a family empowered with knowledge.”

That knowledge can be as troubling as it is empowering—but Honey is glad she has it.

“I would say that I can’t imagine what would have happened if she was not screened, but the sad truth of the matter is that I know exactly what could have happened if her condition was not screened for. I have gotten to know too many parents whose babies have been compromised and forever changed with neurological deficiencies, brain damage, heart problems, coma, developmental delays, loss of motor skills, the need for permanent feeding tubes or some other equally devastating event.”

At 10-months old, Maren took her first steps two days before Christmas in 2012. It didn’t surprise her mother that she started walking early: “Even when I didn’t know anything was wrong, I knew she was a fighter. She’s very persistent, very inquisitive and happy.”

And today Maren celebrates her first birthday.

“Because of newborn screening my daughter is developing on time and normally. She has been given the best start in life. Now, whenever I see a pregnant woman, I stop and take a quick moment to say, ‘Make sure you ask about your baby’s newborn screening. It saves lives. It saved my daughter’s.’”

 

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  1. Pingback: Newborn screening saved these babies. How are they doing now? | APHL Public Health LabLog

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