$7 that could save a child's life - | WBTV Charlotte

$7 that could save a child's life

(Photo provided by family) (Photo provided by family)

Seven dollars could've saved Sophie Sain's life.

Michele Sain says her daughter was born May 10th, 2015. Mother’s Day. She appeared healthy. Mom Michele, a registered nurse in Kannapolis, says everything was great except Sophie was particular about the way she was held.

“She laughed and smiled, but slowly started crying more and often becoming inconsolable,” Michele said. “She had a hard time keeping formula or breast milk down. Doctors never could find anything. They told me it was colic and reflux. I repeatedly heard she’d have to grow out of it.”

By 4 months old, Michele says Sophie was screaming all the time. Michele took her to Levine Children’s Hospital where an MRI showed one side of her brain was slightly smaller. The genetics department was called in to draw vials of blood. They eventually diagnosed her with Krabbe Disease.

“Krabbe is a rare genetic disease where you lack the enzyme to fully protect your nerves,” Michele said. “It meant Sophie’s were exposed and deteriorating. Her constant crying was out of sheer pain.”

Krabbe Disease is deadly. Doctors told Michele that most children don’t live to be two years old if they already show symptoms. Michele later learned it’s treatable if found early, but the state of North Carolina doesn’t have a required newborn screening that would let a parent know in advance.

Hunter’s Hope Foundation – a 501©3 based in New York that promotes awareness of Krabbe Disease and leukodystrophy – says the test costs about seven dollars. Doctor’s can do an in-utero test, but once the child is born it’s also just about taking a prick of their heel to get some blood and genetically testing that blood.

“You can actually get the test through our charity for less than seven dollars,” Anna Grantham, Director of Programming for Hunter’s Hope said. “We are trying to get as many pregnant woman as possible to be aware. But if you don’t get it from us and get it as a patient in a hospital, you’ll pay about seven dollars.”

Why would a low-cost test that can save a child’s life not be required? 

Anna says she thinks it’s about awareness. 

“Other states we’ve introduced this to have passed it quickly,” she said. “Legislators, in my opinion, just don’t know about it. We’ve reached out and explained the disease and the difference they can make. We’ve found they then want to.”

Michele heard that and sent an email all 273 state Representatives in North Carolina asking that question, begging them help her to please change state law to get it passed.

Of those 273 emails, she got nine replies.

“It wasn’t important to them,” Michele said. “One Representative even said it wasn’t ‘feasible’, implying not enough children were dying from Krabbe for it to be considered. I beg to differ. My daughter’s life alone is a reason to test.”

Hunter’s Hope says ten states have this test as a mandate, but it’s only in place so far in four: So far New York, Missouri, Ohio and Kentucky.

“Here in New York we actually have the cost of the test down to about one dollar,” Anna Grantham said.  “The purpose of these newborn screenings is to find those rare diseases in time for treatment.” 

Sophie Sain died April 7th, 2016 at 10 months old. Before doing so she’d gone blind from rapid nerve deterioration and lost her ability to laugh and smile. She left behind a 3-year-old sister who now asks lots of questions about heaven.

“One week before Sophie’s terrible diagnosis I was shocked to learn I was pregnant,” Michele said. “I was terrified of having another sick baby. One in 25 people are carries of the disease. I went to Duke and Dr. Joanne Kurtzberg did in-utero testing. She’s one of two experts on Krabbe Disease in the whole country. We found out this baby is only a carrier of the gene and not affected.”

A bittersweet blessing for little Olivia Faith, who was born healthy on June 23, 2016. 

“I want change," Michele said. "I want ACTION. I want this disease added to newborn tests in hospitals. It’s a basic concept. If it saves one life, it’s worth it. I just need one person to listen to me. I need one state Representative to step up to become sponsor of this bill.” 

If you are a pregnant woman or a future mommy-to-be and you’d like to get a take-home test, you can get one mailed to you. You then take it with you to the hospital when you go to give birth. Doctors send the blood work to Hunter’s Hope, who will test to blood and send results to your pediatrician.

Michele says she wishes she would’ve known she had that option. 

Go to HuntersHope.org for more information or to order the test for your newborn.

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