Boulder girl is first person to receive FDA-approved drug created for one patient

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BOULDER, Colo. -- Every day with 9-year-old Mila Makovec is truly a blessing for her family.

"We have a small window of time and we’re doing the best that we can to try and find a dose that we feel like halts her disease," her mom, Julia Vitarello, said.

Mila was diagnosed 3 years ago at Children’s Hospital Colorado with a rare and fatal neurological disease that affects the nervous system.

“I was faced with ‘no child had ever lived, there’s no treatment, and we know nothing about this disease.’  So I was up against pretty terrible odds in terms of fighting for Mila.  But that didn’t stop me," Vitarello said.

She spent the next year raising over $3 million and sharing Mila’s story, to try and save her daughter.

Her efforts catching the attention of Dr. Timothy Yu out of Boston Children’s Hospital who, miraculously, was able to develop a treatment in less than a year that specifically targets Mila’s genetic mutation.

“I was being told by pretty much everyone in the industry in medicine and science that we were a minimal 10 years away from treating any child like Mila.  That’s what I was told over and over again.”

The drug, Milasen, is named after the Boulder girl.  She’s the first person in the world to receive an FDA approved drug, created for a single person.

Mila began treatments in Boston in early 2018, but now receives them at Children’s Hospital Colorado.

Vitarello says there were noticeable improvements last year. “We saw really complete stabilization and quite a lot of improvements—like way less seizures, and holding her body up well, and laughing and smiling.”

Vitarello is still fighting fo Mila, but she says the sad reality is this treatment may have come too late for her daughter. "She just turned 9-years-old, but she’s not supposed to live past 11 or 12 years old.  I’m fighting for her, but I’m also really aware that everything we’ve done for Mila is going to be much bigger than her.”

That’s because doctors believe this precision medicine has the potential to help children with other diseases, by making slight alterations to the drug, to tailor it to each patient.

“This is something that can potentially treat a percentage of children across hundreds of rare diseases.  And rare disease are not the focus of a company, so no one is going to develop a treatment for these kids," Vitarello said.

Mila’s Miracle Foundation is trying to raise money to finance a team of doctors at Children’s Hospital Colorado that can work on making treatments like Mila's more accessible to other families.

GoFundMe: Saving More Milas / Mila's Miracle Foundation to Stop Batten

Scott Demarest, a pediatric neurologist at Children’s Hospital Colorado said, “That would be our hope, is that this is the type of thing we would be able to develop here and be able to do.  There’s certain challenges to being able to get that off the ground.  But we think we have the right capabilities, the right partnerships, and we’d like to be able to do that here.”

The foundation is trying to raise $500,000 by the end of the year.

Vitarello said, “I think often about where Mila would be today if she had been diagnosed when she was three, and she had received her treatment at four.  She was still swimming and biking, and skiing, and laughing, and talking, and didn’t have seizures.  And she could still see.  Those could have been preserved.  And I’m just really hoping that in the very near future, another Mila will be diagnosed and treated here in Colorado and given a second chance at life."

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