Boy, 4, living with disease only 60 people have been diagnosed with

Published: Jan. 30, 2023 at 3:44 AM EST
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EAU CLAIRE, Wis. (WQOW) - A 4-year-old Wisconsin boy is part of a unique group of people for a heartbreaking reason. He is one of only 60 people around the world to be diagnosed with a rare genetic disease.

Levi Hewitt, 4, is a happy, seemingly healthy little boy. But when he was a baby, he was sick, and doctors couldn’t figure out why they couldn’t get his oxygen levels up.

“He was a normal, healthy kid. And then, right before he turned 1 year old, in September, he was sick. And the doctor was like, ‘Well, his lungs sound great, but they look like crap,’” said Levi’s mother, Tianne Hewitt.

Round after round of tests revealed Levi has multisystemic smooth muscle dysfunction syndrome, or MSMDS. Experts say only 60 people in the world have ever been diagnosed with the disease.

“We get this diagnosis, and we’re told he can’t do contact sports. But he loves baseball. He loves it, and he’s so good at it. It just broke my heart. ‘Cause I was like, ‘This just isn’t fair. He can’t be a normal kid,’” Tianne Hewitt said.

MSMDS is caused by a rare genetic mutation. It affects muscles that operate largely involuntarily in healthy people, including some in organs like the bladder, intestines and lungs.

Aside from the oxygen Levi is nearly always on, you wouldn’t notice anything is wrong. But doctors say patients like the 4-year-old are at high risk of stroke starting at age 10, and early mortality is common.

Levi’s diagnosis left his family with many big picture questions.

“What does middle school look like? What does high school look like? How do we get to college? Do we make it that far?” said Levi’s father, Nick Hewitt.

It’s been challenging for the entire family, with Levi’s parents spending most of their time at home with their kids.

“When I’m not at work, I’m at home almost exclusively. I don’t do a lot outside of being with my kids,” Nick Hewitt said.

“Sometimes, it’s frustrating for me because I want him to be able to do everything that he wants to do,” said Levi’s older sister, Charleigh Hewitt.

Confused and anxious about how best to raise Levi, his parents reached out for support, finding a network of others living with MSMDS on Facebook. Families from all over the United States, as well as France, Germany, Israel and Australia, are part of the support network.

Each year, they gather in Boston, where the world’s foremost MSMDS specialists are based.

“This was a good opportunity for them to meet directly with all the specialists. But not just that, we are able to share stories,” said Warren Anderson, the father of a 5-year-old with MSMDS.

While stories don’t equate to a cure or answer all of the Hewitts’ questions, it’s a start on helping them figure out how to live with the rare disease.

“It’s really difficult to understand unless you hear the story. When you hear the story and know what it’s like for someone else to struggle with this, then now, you have another piece of that puzzle,” Nick Hewitt said.

The Hewitts are currently trying to raise money on GoFundMe, so they can afford to attend the MSMDS conference in Boston in May.