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Young Vermonter battles rare genetic disorder

Published: Oct. 28, 2021 at 8:37 AM EDT
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WILLISTON, Vt. (WCAX) - A young Vermont boy is battling a rare genetic disorder, part of a spectrum of disorders that affect about one-in-7,000 kids.

That spectrum of disorders are called Leukodystrophies, with some being more understood than others. The abbreviated version of the name is H-ABC. It’s a rare genetic disorder that progressively damages the nervous system.

Christian Leduc celebrated his second birthday about a month ago, but his mom, Beth, describes those first two years as a whirlwind. “He had a nagging cough, and it lasted for weeks, and we kept taking him to the doctor,” she said.

During a doctor’s appointment at about five months old, his doctor recognized Christian’s lack of ability to support his head. “Typically the child’s head comes up, and his head went back,” said Beth.

That led to some follow-up testing. Then, in 2020, a fight with RSV, a common respiratory virus, hospitalized Christian, but doctors told the Leducs they had other concerns. “They said they were talking about having a genetics doctor coming up, and I was like, ‘What’s going on, he’s just got RSV,” said Beth.

Genetics testing came back a few months later with a mutation in the TUBB4A gene. “Okay, so it doesn’t sound so bad, it doesn’t sound so scary, but if you Google it, it’s right there,” said Beth.

But a consultation with Boston Children’s Hospital came with a diagnosis of H-ABC and Christian began seeing specialists at Massachusetts General Hospital as well as Children’s Hospital of Philadelphia.

“Disorders that are called Leukodystrophy affect the parts of the brain that create Myelin,” said Dr. Adeline Vanderver, one of Christian’s doctors at the Children’s Hospital of Philadelphia. She says H-ABC causes key pieces needed in the cells of the brain to not generate properly, ultimately limiting the creation of that critical Myelin. It often shows up by affecting motor skills. There is no cure yet and it can be terminal, but research into gene therapy is being conducted.

Dr. Vanderver says at this point, it’s about education. “When you come home from an appointment where your child was diagnosed with Leukodystrophy, you come back to your community, no one understands what that word means, no one understands that effectively means the same thing as a diagnosis of cancer. Your child’s life could be at risk, you are going to be seeing the doctors, a lot and your life is going to be forever different. It is incredibly important to provide education and knowledge because the only way we are going to help and support these families is by increasing awareness and supporting them through this difficult journey,” said Dr. Vanderver.

Back in Vermont, Beth Leduc says with awareness, she hopes other parents won’t have to look as hard for answers. They say it’s easy to get caught up in the diagnosis or the fear, but not to focus on that. “What do we know and what can we control,” she said.

Things like diet, a medical team, support, and attitude are what they are grateful for. “I know there is hope, and I think the people we have supporting us are key players in that,” said Beth.

The Leduc family has a silent auction set up in an attempt to raise money for research being done on H-ABC and other Leukodystrophy disorders at the University of Massachusetts Medical School. The school is currently working on gene therapy to stop the progression of the disease.

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