Mila Makovec and her family left Boulder County last year and rented a house in Boston so the 9-year-old could receive an experimental treatment at Boston Children’s Hospital in which doctors custom made a drug to block the genetic mutation causing Mila’s Batten disease — a rare and fatal neurodegenerative condition that resulted in the loss of her sight, speech, mobility and ability to swallow.
However, when Mila was first administered the drug in January 2018, she was the first and only patient in the world to receive personalized medicine. Now, with Mila’s symptoms in check thanks to the experimental drug, her mom, Julia Vitarello, is attempting to raise $520,000 through her charity, Mila’s Miracle Foundation, so Children’s Hospital Colorado can develop the next academic center for personalized medicines and expand the accessibility of these kinds of treatments.
“When Mila was diagnosed three years ago there was no hope, all of the doctors simply said there was nothing to do,” Vitarello said. “Now, with the development of this drug, suddenly there is hope. But these hospitals need money to help more kids and gather more data so that they can continue to develop this kind of therapy.”
If successful in her fundraising campaign, the $520,000 would fund a team of doctors, led by Dr. Scott Demarest, a pediatric neurologist at Children’s Hospital, for two years worth of research on personalized medicines.
Donations made to Mila’s Miracle Foundation through Dec. 31 , will be matched up to $150,000 by an anonymous donor.
Vitarello and her husband, Alek Makovec, started Mila’s Miracle Foundation in hopes of finding a cure for Batten disease. In 2017, the foundation raised $1.5 million it used to hire a team of scientists and fund a clinical trial for the customized drug, which became known as Milasen.
While Milasen is not a cure for Batten disease and the drug only works for Mila, it has seemingly halted the disease’s progression and provided thousands of people with hope that they, too, might be able to reverse the course of an incurable disease using a similar kind of personalized therapy.
“This study offers a possible template for the rapid development of patient-customized treatments,” Dr. Timothy Yu, an attending physician with the Division of Genetics and Genomics at Boston Children’s Hospital, wrote in an article summarizing his work developing Milasen.
Vitarello and Yu also presented Milasen’s results to the U.S. Food and Drug Administration, the National Institutes of Health, and at Stanford’s Pediatric Grand Rounds.
“The wheels are finally moving,” Vitarello wrote in a newsletter she sent to those who have donated in the past. “I don’t know what Mila’s future holds, but I can finally see that our fight and Dr. Yu’s work are opening up the possibility of an entirely new field of personal medicines for rare diseases. I can’t help but wonder where Mila would be today if she had started treatment even a year or two earlier. But she was the first, and our goal is to diagnose and treat the next children before symptoms take over, and eventually at birth.”
Those interested in donating can do so at milasmiracle.org.