Boy's rare disease triggers push for newborn screening

Blake Switow used to be a healthy, active teen before he was diagnosed with ALD, a rare neurological disorder. Feb. 24, 2015

Blake Switow was your average 14-year-old boy.

He was an honors student and an athlete, always enjoying outdoor activities with his family.

"Running cross country, riding his mountain bike, doing things with his friends." recalls his mother, Kathy Switow.

Life for Blake changed in his eighth-grade year.

"He started forgetting his homework, he started forgetting a lot of things at school," said Kathy Switow. "That's what really triggered me because that wasn't Blake."

His parents' concerns grew in January 2012 when Blake's temperature shot through the roof.

"We took him down to East Tennessee Children's (Hospital) and they knew something wasn't right."

A seizure prompted an MRI. Then came the startling diagnosis.

"They said he may have ALD. And we thought, We didn't know what that wasand thought, there's no way." said Kathy Switow.

A-L-D or Adrenoleukodrystrophy is a rare progressive neurological disorder.

Child Neurologist Dr. Chris Miller sees Blake in Knoxville.

"The patient is robbed increasingly of their ability to use their muscles and eventually to use their senses like sight and speech," said Miller.

The disease affects only boys - one in every 17,900.

"The children are fairly involved by the time we catch their disorderso we are behind the 8 ball in terms of understanding how we are going to help them." said Miller.

The Switows had the option of attempting a bone marrow transplant, but the chance was still 50/50.

"You've got to decide, do we take the risk at 50 percent or do you not do the transplant and know at some point you're going to lose him?" said Kathy Switow.

Their tough decision took them to Minnesota's Amplatz Children's Hospital.where Blake survived two transplants and chemotherapy.

Today, three years later, Blake has lost his vision and has trouble processing information.

But Blake can still communicate and talking brings comfort.

"That's probably because it's dark. " says father John Switow. "And when it's quiet. He's alone.. and when he's talking he's not alone"

Life now has a new pace, with Blake attending school each day despite the struggle. He attends three periods of classes, and then he sees an English tutor twice a week. His parents say school is probably the most normal aspect of his life.

One thing has stayed the same. Blake still loves school.

"It kills you, to think of how active he was, and how independent he was getting," said John Switow.

A newborn screening could have detected Blake's A-L-D at birth, but in Tennessee the test isn't required.

"This is a disorder that's not well known, it's not very prevalent so it doesn't get the attention that other diseases do. But for the family of an involved patient, and the patient themselves, it's a terrible disorder.and anything we can do to understand it better and to further treatments is going to be a great benefit to those people." said Miller.

The Switows want newborn screenings nationwide, and they're pushing for them here in Tennessee.

Currently New York is the only state that has a test required for ALD screening for newborns.

There is a newborn expansion bill being proposed in Tennessee, but it doesn't include ALD.

For Blake, he's taking each day at a time.

"We're proud of him, a great kid," says John Switow.

"He still has his sense of humor, " says his mother. "He has a phenomenal sense of humor."

Blake hopes to help others just like him.

"His dream is to be a pediatric psychiatrist and that's HIS dream, and that's what he focuses on, so we try to keep that dream alive for him."


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