Mahtomedi mom seeks to help boys like her son who have a terminal muscle-wasting disease

A Mahtomedi mother who testified before a Food and Drug Administration advisory committee Friday has helped families everywhere get one step closer to fighting a terminal disease that targets young boys.

After Marit Sivertson and other families testified on Friday, the FDA’s Duchenne Muscular Dystrophy advisory committee voted 8 to 6 to fast-track approval of a gene therapy that she believes has changed her 9-year-old son’s life.

“This is the news that our community has been advocating for and waiting for,” she said. “These boys don’t have the luxury of time. Each and every day that passes, their muscles deteriorate and these families continue to lose a part of their sons. This is the best possible outcome we could have hoped for.”

Girls can get the disease, as well, but the disease mostly targets males.

When her son, Brecken Kinney, was a toddler and Sivertson took him to the park to play, she noticed he wasn’t climbing on the equipment like the other children.

She’d already noticed delays in Brecken’s crawling and walking, but when she brought it to the attention of pediatricians, her concerns were dismissed. For years.

“He’s just a typical boy. We wouldn’t be concerned about it. We’re sure he’ll walk or crawl very soon,” they told her.

But the developmental delays continued, and Sivertson noticed that her son frequently tripped and found it tough to sit up or get off the ground. Despite reassurance by several doctors that the delays were normal, Sivertson didn’t give up trying to find the cause.

“Call it mom’s intuition, I knew something wasn’t right,” she said in an interview last week.

She continued to seek opinions and finally received a diagnosis that was devastating. Brecken, just shy of his third birthday, had a terminal muscle-wasting disease.

Most people diagnosed with Duchenne Muscular Dystrophy are guaranteed to be wheelchair-bound sometime between age 9 and 12, and most likely do not live past their 20s, Sivertson soon learned.

“There are two phone calls I’ll never forget,” Sivertson said, “The phone call that he had this terminal disease and the phone call that he was accepted into a gene therapy trial (to treat the disease).”

In 2020, Brecken was accepted into a trial gene therapy program and now is running and playing with other children and his brothers.

Sivertson said she is thrilled the gene therapy now will most likely be available to other boys.

“Every day, every moment, every year that passes, these boys continue to go downhill,” she said. “From a community perspective, the time is now. We don’t have another year, or two years, to sit and wait when you have a progressive muscle-wasting disease. You will lose a generation of boys confined to wheelchairs who will lose cardiac and pulmonary function and will ultimately die. There is no time to waste.”

As soon as Brecken was diagnosed, Sivertson said they “couldn’t accept that this would be his future.”

His family began researching clinical trials. There weren’t many at the time. Gene therapy was just starting to be talked about, she said.

Two years later, she found that Nationwide Children’s Hospital in Columbus, Ohio, was a world-renowned hospital doing research for Duchenne Muscular Dystrophy and the gene therapy trial. She filled out a form online and joined thousands of other parents clinging to the hope their child would be accepted into the trial.

Sivertson was in Washington, D.C, at a museum with work colleagues when she received a call from a Columbus area code.

“My heart dropped,” she said. “This is the phone call you have hoped and dreamed of since diagnosis, that had the potential to change the trajectory of your child’s disease. I had tears in my eyes when I answered that call.”

It was good news. Brecken was invited to participate in the trial.

“You jump at that opportunity,” she said. “With this disease, there was only one thing certain at the time: It was a progressive terminal muscle-wasting disease.”

When she hung up, her colleagues, who had known her hopes to get Brecken into the trial, saw she was weeping.

“We were all hugging and crying together,” she said. “It was a monumental moment — that phone call changed his life. It was certainly a really special moment. I called my husband and my parents. Then we packed up and moved to Columbus.”

Once Brecken, then 6, received the therapy, the change was apparent “very quickly,” she said, noting they saw “significant changes.”

Before he received the drug, Brecken wouldn’t leave her side while his friends and younger brothers ran around playing, she said.

“I think he knew he couldn’t keep up,” she said. “We’d be at dinner holding back tears as we watched him struggle to walk up stairs or lifting himself off the ground.”

Their future was braces, wheelchair and mobility issues, she said.

“You really lose any sense of hope. You don’t want to hope because it’s this scary dangerous thing to even think about,” she said.

As soon as he received the gene therapy the difference was unmistakable.

“We saw significant changes not only in his ability to go upstairs, but his stamina changed, his confidence, all these things when you are previously limited physically — you don’t think about those things.”

Now, three years after receiving the dose, his life is different.

“Usually most of those kids are wheelchair-bound,” she said. “he’s still walking up stairs, standing up with ease, he swims, dives, bikes, runs outside with his brothers (ages 5 and 3). He’s doing all the things you hope a 9-year-old boy would be doing.”

If the gene therapy stopped the degeneration of his muscles, his future now may never include a wheelchair, she said.

“It’s a monumental victory for the entire Duchenne community,” Sivertson said, noting that there was “incredibly powerful” testimony from families of boys with the disease.

Next, she said, the FDA will review the recommendation of the advisory committee. In most cases, the FDA accepts the recommendations, she said.

“Our hope is that this really will change the trajectory of this disease.”

Sivertson has a close friend who lives in Minneapolis and has two children, boys ages 8 and 9, who both have the disease. They also applied to get into the trial but were not accepted when Brecken was.

She has vowed to do everything she can to help her friend’s two sons receive the life-changing therapy, as well.

Friday’s approval by the advisory committee means that she is one step closer in that mission.

“She’s losing a part of her boys every day that passes. She’s lost hope,” Sivertson said. “And that’s why this accelerated approval is so important for these boys and for the thousands of families across the country who are waiting. Their boys need this therapy. All of them need the same opportunity as Brecken.”Related Articles

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