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Colorado teen provides hope to aunt of boy with rare genetic disorder

Kelly Sedan's nephew was diagnosed with H-ABC, an affliction that only has 200 known cases worldwide.

AURORA, Colo. — When Kelly Sedan got word that her sister Beth was going to have a baby in Vermont, she was ecstatic.

Sedan got to meet her nephew, Christian, when he was 1 month old.

"To hold him just brought such joy to my heart, and I felt our family was complete," Sedan said.

Weeks after returning home to Aurora, Sedan got news she didn't want to hear.

"I was working, and I get a text from mom saying 'Beth's going to the ER with Christian,'" Sedan said.

What started out as a cough and a suspected respiratory issue called RSV turned into tests over a span of months and obvious problems with Christian lifting his head and developing motor skills.

"She said they're doing an MRI, and then we weren't sure why," Sedan said.

The eventual diagnosis was a rare genetic disorder called hypomyelination with atrophy of basal ganglia and cerebellum, or H-ABC. It is a type of leukodystrophy with only 200 known cases worldwide.

 "It was like hitting the lottery, but in a not-so-good way," Sedan said.

Credit: Courtesy of Kelly Sedan
Christian Leduc is one of only 200 people worldwide diagnosed with hypomyelination with atrophy of basal ganglia and cerebellum, or H-ABC.

Life for Kelly and her now 2-year-old nephew became hard to predict.

"There's nobody else going through what you're going through. How helpless of a feeling?" Sedan said.

But, there is someone – in Thornton. One of the 200 cases is 16-year-old Sierrah Cummins, who lives with her grandfather Kevin Cummins and her grandmother Janet Jubenville.

"When they first diagnosed it. Sierrah was the fifth person in the United States with it and the seventh in the world," Jubenville said.

H-ABC is caused by a mutation of the TUBB4A gene, and the effects get worse over time.

"You're suddenly faced with grieving the future, grieving what's going on now, fearful. Is something gonna happen right away? How's it going to happen? What's going to happen? And they just had no answers," Jubenville said.

Credit: Byron Reed
Sierrah Cummins, 16, lives with her grandfather Kevin Cummins and her grandmother Janet Jubenville in Thornton.

Sierrah lost the ability to walk, and Jubenville said her condition continues to get worse.

"In the past six months, she’s lost head control and her speech has become a much bigger problem and eating has been a problem," Jubenville said.

Still, Jubenville said she will not let H-ABC rule over Sierrah's life.

"Sierrah is an incredibly happy person," she said. "She understands what's happening."

For the 12 years after the diagnosis, Sierrah was enrolled in baseball, ballet and cheerleading. Right now, her favorite things to do are choir and horse therapy.

"It helps her feel included in the world," Jubenville said. "We don't focus on what can she not do. We focus on what can we do, or how can we make it work for her."

Jubenville wants Sierrah to think about living instead of dying.

"We try to give her every opportunity a typical child has," she said. "We just live in the day, in the moment. We don't worry about what's gonna happen in a year, what's gonna happen in six months."

Credit: Byron Reed
Sierrah Cummins, 16, enjoys going to horse therapy.

What is happening right now is that Sierrah's life is giving Sedan hope for Christian's life.

"This girl is not letting leukodystrophy settle her down, keep her down. She is like, 'you know what, I am showing it who's boss,' " Sedan said. "To know that she's 16 and doing all this, it really does. It really gives us so much hope for the future."

Sedan and Jubenville want to create awareness of H-ABC to find support for a cure and maybe find other families out there who feel lost.

> Find out more about H-ABC

Sedan dreams of one day bringing Christian to visit her home in Aurora.

"I think it about it every day. I think about it many, many times a day," Sedan said. "That would be nice just to have him here in my house."

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