Covering Medicine: Knox County couple pushes for screening in newborns for rare genetic disease

Mabry Kate Webb has a rare genetic disease that usually takes the life of a child before the age of two.

POWELL (WATE) – A young couple in Powell is holding on to each day they have with their 8-month-old daughter.

For the first three months of her life, little Mabry Kate was a normal, happy, smiling baby. After searching for answers in East Tennessee, the couple turned to Cincinnati Children’s Hospital where they got the devastating news.

A young couple in Powell is holding on to each day they have with their 8-month-old daughter.
A young couple in Powell is holding on to each day they have with their 8-month-old daughter.

Mabry Kate Webb has a rare genetic disease that usually takes the life of a child before the age of two. There’s no cure, but the disease can be caught and treated through a screening, which is mandatory at birth right now in New York and Missouri.

Illinois, New Mexico, New Jersey and Pennsylvania have passed legislation to add this to newborn screening panels.

Testing for Krabbe disease and others like it is not mandated here in Tennessee. The family hopes that will change to keep other families from going through the heartbreak.

Krabbe disease is a fatal degenerative disorder, similar to Lou Gehrig’s disease, that affects the nervous system. Mabry Kate’s symptoms began at three months.

“The biggest thing I noticed was her smile. It didn’t completely disappear all at once, but it wasn’t as big or as animated. It slowly got smaller,” said mom Christin Webb.

Christin Webb
Christin Webb

Webb is a fifth grade teacher and recently named head coach of the Lady Panthers team at Powell High. The girls on her team sport special blue ribbons in honor of Mabry Kate.

The family wishes Mabry Kate had been screened for Krabbe disease at birth.

“Had it been on the newborn screening, there could’ve been something life-saving, some kind of life saving treatment for her and the situation we’re in now could be totally different,” said Webb.

Stem cell transplants have been successful in babies treated before showing symptoms. Now, the family hopes to do all they can to spare others the anguish of knowing their child’s days are numbered.

“We always felt like she had a purpose here on Earth. We never imagined it would be this,” said Christin Webb.

“It’s a tough situation to be told you can’t fix it, and it’s a tough situation to be told you have to do your best to make her comfortable,” said dad Kyle Webb.

Kyle Webb
Kyle Webb

If this sounds familiar, Krabbe disease is something former Buffalo Bills quarterback Jim Kelly’s son was born with. Hunter Kelly died in 2005.

Through the website Hunter’s Hope, you can sign a petition to try to get mandatory newborn testing for Krabbe disease and other similar disorders here in Tennessee. It takes a minute or two.

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