Mila Makovec and her family left Boulder County last year and rented a house in Boston so the then 7-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 results in the loss of vision, speech, mobility and eventually ends in death in the early teens
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, two years into the treatment Mila’s symptoms seem to have greatly slowed. Her mom, Julia Vitarello, is now attempting to raise $520,000 through her charity, Mila’s Miracle Foundation, so Children’s Hospital Colorado can develop the next academic medical center to focus on personalized medicines like Mila’s.
“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, milasen, named after Mila, suddenly a potential new treatment path across many diseases has opened up. But to get there, more kids need to be treated and more data needs to be collected. Children’s Colorado, where Mila was diagnosed and now receives her drug, is the most logical place to continue working to grow this exciting new field of medicine.”
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 started Mila’s Miracle Foundation in hopes of finding a cure for Batten disease and other neurological diseases in children. Since its founding in 2016, the foundation raised $3 million , which has gone towards a novel gene therapy for Mila’s type of Batten disease, basic science research in the U.S. and Europe, and work leading up to the creation of milasen.
While milasen is not a cure for Batten disease and the drug only works for Mila, the platform which it is based on provides a possible new tool in the form of personal medicine for thousands of people suffering from rare diseases that otherwise would have no hope for treatment.
“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.
