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This nonprofit helped a Lake Highlands family cope with their son’s rare disease. Now they’re paying it forward

Trekking for Thomas gives Lake Highlands family hope, purpose

Thomas Martinelli is a 10-year-old Lake Highlands Elementary student who rides his bike and plays soccer. For his parents, Kim and Brent Martinelli, it’s mind-boggling. 

“I don’t know how he does it,” Kim says. “He’s legally blind. He’s got tunnel vision.”

The Martinelli family discovered Thomas’ sight was fading when he was 18 months old. After he failed a vision screening, Kim was confident that Thomas had an astigmatism.

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But instead, an ophthalmologist examined Thomas, quickly left the room and returned with a senior partner.

“Your son is going blind,” the partner said. Thomas has retinitis pigmentosa, a degenerative eye disease.

Kim and Brent were left reeling. She worried vision loss was a symptom, rather than the problem itself. As a speech therapist, she noticed other symptoms — hearing loss, low muscle tone, feeding issues. 

“I just kept thinking there’s something tying it all together,” she says. “There has to be.”

More than four years and dozens of doctors’ appointments later, the Martinellis had an answer: Zellweger Spectrum Disorder.

“You just learn really quickly that there’s no one else looking out for your kid but you,” Kim says. 

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Zellweger Spectrum Disorder is a type of peroxisomal disorder, which are both rare and genetic. Peroxisomes are organelles that are “necessary for cell function, normal brain development and the formation of myelin,” according to the Global Foundation for Peroxisomal Disorders. 

Defects in peroxisome production impact every organ system in the body, including the liver, kidneys and brain. A geneticist in Houston told the family there was no cure. There was nothing they could do to help him either, he said.

Kim Martinelli (left) and Meagan Martinelli pose together during Trekking for Thomas. (Photography courtesy of the family.)

 “At first I was scared and completely depressed,” Kim says. “I call it my year in the black. I was in a fog. … I think it’s just a constant mental struggle to only think about the moment.”

Thomas defied the doctor’s expectations. His liver and vision are stable. And his brain has shown no signs of deterioration. 

Three years ago, Kim ran a marathon to raise money for the Global Foundation for Peroxisomal Disorders, an organization that’s provided the family with instrumental resources and support.

Since her sons asked to run the marathon, Kim’s sister-in-law suggested they organize a fun run for kids. They coordinated Trekking for Thomas in three weeks and raised $5,000. Last year, nearly 200 kids participated, and they raised $23,000. 

“Such huge supporters believe in Thomas,” Kim says. “And that’s all you want — a  teacher or medical professional to buy into your kid. We’ve just been really fortunate.”

Trekking for Thomas is slated Sunday, Dec. 2, at 6827 Hyde Park Drive. Get all the details here. 

About the Author:

ELISSA CHUDWIN is an editor at Advocate Magazines. Email her at echudwin@advocatemag.com.