KANNAPOLIS, NC (WBTV) - Seven dollars could've saved this baby girl's life.
Michele Sain says she started emailing several times over the past few months, but couldn't get through the note. I sure am glad she worked hard to finish and hit send.
I can't believe only seven dollars could've saved Sophie Sain.
Sophie was born May 10th, 2015 and appeared healthy. Mom Michele, who is also a registered nurse in Kannapolis, says everything was great except that 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.
She was admitted to Levine Children's Hospital for failure to thrive because of vomiting food and lack of nutrition. An MRI showed one side of her brain was slightly smaller so the genetics department came and drew vial after vial of blood.
"Genetic results take at least a month to return," Michele said. "We were sent home to wait with a feeding tube and no real answers."
The call came the last week of September.
"We were told Sophie had Krabbe Disease," Michele said. "Krabbe is a rare genetic disease where you lack the enzyme to fully protect your nerves, meaning 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 is treatable if found early. She says there are two experts on this disease in the country. One works at Duke University Hospital.
"A world renowned doctor," Michele said. "Right in our backyard. Hours from my baby and our lives. If only the state of North Carolina would have this disease – and many of the leukodystrophy diseases – as part of newborn screenings at birth. Then I would've known. Then we could've tried to save her. But our state doesn't include the test. It's not required so we didn't know."
Why would it not be required?
"They say it's too rare," Michele said. "That it's not worth testing. I beg to differ. My daughter's life alone is a reason to test."
Of course Michele is right. Look at Sophie's picture again. Of course she's worth it.
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. 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.
As if that's not enough, here's the part that blew me away most --
Michele says the Krabbe Disease test she's now lobbying Congress to include in newborn screens, only adds $7.00 to the overall exam.
My God. That's just preposterous.
Because the son of Buffalo Bills football player Jim Kelly had Krabbe, the state of New York is currently one of only a handful of states that does screen for this disease at birth.
"How can I not push to make a change and create action," Michele asks. "How can I not? 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 to get one person to listen to me."
We're listening, Michele. We're all listening.
You now have this post – we can share it. I'll also write an article for wbtv.com and put something on tonight at 11pm.
What else do you need?
"Just please tell people to read this," she said. "Tell them to tell someone else they learned about a terrible disease today that could be identified at birth for $7. If only I was aware of Krabbe, my baby girl would be here today with proper treatment of a stem cell transplant. She deserved that chance."
Yes. She absolutely did.