Last time Patient Worthy wrote about Mila Makovec, she was seven and beginning a cutting-edge experimental treatment for her Batten disease. It’s now nine months later, and Mila is showing huge improvements. You can read about this in more detail at the source article here, at Stat News.
About Batten Disease
Batten disease is a rare and fatal disease with no known cure. It can be caused by several different gene mutations, many of which begin to show symptoms in childhood. People have different experiences with Batten disease, but, in Mila’s case, she began to have seizures, developed problems with her speech, movement, and swallowing, and lost her vision. To read more about Batten disease, click here.
Mila’s Story
According to an article at the Times-Call Regional News, after Mila was diagnosed in 2016, her parents threw themselves into raising awareness of the condition, and money to fund treatments. They started a charity called Mila’s Miracle Foundation to fund promising gene therapy research, which raised more than $1.5 million in 2017.
It was around this point that the family heard of an extremely experimental therapy for Batten disease, something that her mum, Ms. Julia Vitarello, said would “give her a real shot at life.” The treatment was a gamble – it was impossible to predict whether it would improve or worsen Mila’s condition. Scientists, doctors, and the family worked closely with FDA regulators, and the experimental drug raced through regulatory milestones. Dr. Yu, who played a huge role in the process, told Stat News that it was “perhaps the most aggressive attempt at trying to bring a drug into a human that we’ve seen.”
The Treatment
Mila began taking the drug in January. She was given doses once every three months using an IV, and, so far, her response appears to be extremely encouraging. Her seizures, which used to happen around thirty times per day and last two minutes, have reduced to between five and twelve times per day, and last for a few seconds. Dr Yu says that this isn’t typical for those with Batten disease, who usually experience increasingly severe seizures. Mila is also sitting upright now, and is more alert and able to engage. Vitarello says, “She’s just here now. She’s present.”
According to Stat News, Mila has a particularly rare genetic mutation, and because of this the drug used to treat her probably can’t be used for most children with Batten. Researchers have tested five hundred genomes to see if another child has a similar underlying genetic pattern, but haven’t found a match yet. Nevertheless, Mila’s incredible story and encouraging response to the experimental treatment may offer real hope for the future of research into Batten disease.
