Wisconsin boy living with MSMDS, a disease only 60 people have

LAS CROSSE-EAU CLAIRE, Wis. -- Levi Hewitt is a happy, seemingly healthy 4-year-old.

"He was a normal kid. A normal healthy kid,' said his mom Tianne Hewitt. "And right before he turned a year old, in September, he was sick. And the doctor was like, 'his lungs sound great, but they look like crap.'"

Doctors couldn't figure out why they couldn't get his oxygen levels up.

"The doctors were terrified. They thought they did something," said the young boy's father, Nick Hewitt. "I didn't think anything of it. I said, 'this is normal for him.'"

Round after round of tests revealed Levi has a disease that experts said only 60 people in the world have ever been diagnosed with. It's called MSMDS, or multisystemic smooth muscle dysfunction syndrome.

It's caused by a rare genetic mutation. Muscles that operate largely involuntarily in healthy people are affected in organs like the bladder, intestines and lungs.

"I was so excited when I had a boy, and you should see him hit a baseball. Like, he's pretty good. He has an arm like nobody's business," Tianne said. "And then 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."

Aside from the oxygen he's nearly always on, you wouldn't notice anything is wrong. But doctors said patients like Levi are at high risk of stroke starting at age 10 and early mortality is common.

It leaves the Hewitts 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," Nick asked himself.

It's been challenging for the entire family.

"When I'm not at work, I'm at home, and I'm at home almost exclusively. I don't do a lot outside of being with my kids," Nick added.

"Sometimes it's just frustrating for me, because I want him to be able to do everything that he wants to do," said Levi's big sister, Charleigh.

"I just keep telling myself, 'right now, the place I need to be is at home.' so, that's where I am at. And sometimes I love it and sometimes I hate it," Tianne said.

Confused and anxious about how best to raise Levi, the Hewitts reached out for support and found a network of others on Facebook who are also living with the disease.

Families from France, Germany, Israel and Australia -- and each year they gather in Boston, where the world's foremost MSMDS specialists are based.

"Boston has one of the only groups that is directly involved in finding a cure. Knowing that all that expertise is centrally located is key to understand that there is not a lot of support out there. This was a good opportunity for them to meet directly with all of the specialists. But not just that, we are able to share stories," said Warren Anderson, with ACTA2 Alliance and a father of a child with MSMDS.

"It's really difficult to understand unless you hear the story. So when you hear the story and you understand what it's like for someone else to struggle with this, then now you have another piece of the puzzle," Nick.