This 10-Year-Old Girl Received The First Ever Customized Gene Replacement Therapy: Now Her Treatment For Batten Disease Brings Hope To Other People Suffering From Fatal Neurodegenerative Diseases
Longmont, Colorado. Batten disease is a group of rare, incurable neurodegenerative diseases. Neuro-(brain, spinal cord, and nerves) degenerative-(progressive deterioration and loss of function of organs or tissues).
These types of diseases can cause many problems with movement, speaking, breathing, and death.
Little Mila Makovec was diagnosed with a type of Batten disease called “CLN7” in 2016 when she was just six years old.
Her life started like a typical healthy little girl, running, playing, and singing. She talked up a “storm,” her mother, Julia Vitarello, said. “At three, we noticed Mila would get stuck on words, and one of Mila’s feet was turned inward.
By five, she seemed to have issues with vision and walking. We had her continually assessed by doctors, from neurologists to ophthalmologists.
But no one could explain what was going on. When she turned six, she got precipitously worse in a matter of weeks.” Mila had seizures and could no longer speak.
Finally, she was diagnosed with Batten disease. It was a relief to have answers, but at the same time, the symptoms of Batten’s for children were severe.
Epilepsy, Parkinson’s, blindness, and dementia were top on the list, under death. The condition was 100% fatal.
GoFundMe; pictured above is Mila
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At the time, there were no cures or treatments for Batten disease, but Julia would never give up. She started “Mila’s Miracle Foundation” to raise money to develop gene therapy for her daughter.
One year later, Boston Children’s Hospital scientist Timothy Yu saw a Facebook post talking about Mila’s condition, and he was intrigued.
Through family genome testing, Yu was able to determine her affected gene. At that time, a new drug targeting a different neurodegenerative disease had just been released.
This new drug could target the malfunctioning gene and “override” its function. So Yu thought they might be able to tailor the new drug to target Mila’s CLN7 gene, stopping it from malfunctioning.
Yu dedicated his time and massive resources, coordinating the development and production of the therapy, now called “milasen.”
He jumped through hoops and miraculously helped push milasen through the FDA’s stringent emergency use protocol. Because of Yu’s dedication, expertise, and great care, Mila received the new drug.
Although therapy was finally available, Mila’s condition took a turn for the worse in the last two months, waiting for milasen.
According to https://cen.acs.org, “She could barely walk without assistance and had become reliant on a feeding tube for food and water. Her already limited vocabulary disappeared. Worst of all, she began having seizures that took all of Vitarello’s strength to control.”
Although Mila showed improvement in the number of daily seizures she had (previously 30 per day, decreased to a few) and began eating meals by mouth, she had already lost too much to sustain life. If only they had been able to get help sooner.
She succumbed to Batten disease and sadly died on February 11th, 2021. On February 12th, Mila’s mother wrote, “yesterday, Mila’s spirit left her body. A day so trying that it will forever change me….” Mila did not die in vain.
Julia is spreading hope to other children and adults dealing with rare genetic diseases and promoting change by telling Mila’s story and raising money for continued research and development of targeted replacement gene therapies.
For more information, you can visit Mila’s GoFundMe here.
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