An eight-year-old girl with a rare and fatal inherited disease has received a drug designed specifically to treat her symptoms and it could pave the way for tailor-made medicine.
That's the case being laid out in a new report published on Wednesday in The New England Journal of Medicine discussing Mila Makovec of Boulder, Colorado.
Mila was born happy and healthy and was hitting every developmental milestone until she started stuttering around age three.
She would hold books a little too close to her face and walking became a struggle.
Then, her vision failed her completely at age five.
Doctors diagnosed her in December 2016 with Batten disease, a neurodegenerative disorder that robs sufferers of their speech and mobility, and kills them before they are teenagers.
But her parents, Julia Vitarello and Alek Makovec, now have hope that she will live longer thanks to a drug that has been tailor-made to target Mila's genetic mutation and is believed to be the first example ever of a treatment that was made for just one person and that would work only for her.
A new tailor-made drug has been used in Mila Makovec, from Boulder, Colorado, who has a rare, inherited neurodegenerative disorder called Batten disease. Pictured: Mila with her grandparents, Jeni and Jim Vitarello, after recieving a dose of her specialized drug
Mila, eight (left and right), was born healthy and happy and hit all her developmental milestones. But then she developed a stutter, began having trouble walking and became blind
In the rare disease community, even the exciting drug and therapy developments come with a major caveat: time.
Most drugs take years to develop.
But the team working on a treatment for Mila at Boston Children's Hospital, was able to make and administer the treatment in just one year.
'This report shows a path to personalized treatments for patients with orphan diseases,' the authors wrote, in reference to diseases that affect fewer than 200,000 people nationwide.
And that year could be the difference between life and death for children like Mila, who suddenly and mysteriously begin fading before their parents eyes.
Julia and Alek say that their daughter was a boisterous, cheerful child growing up - much like her younger brother Azlan, four.
'She had a huge vocabulary for her age. She was extremely active and talkative. She would sing all the words to every song,' Alek told The Denver Post in 2017.
'She would hike for hours on end, two-and-a-half or three hours. She climbed walls and fences. She was always up for anything. She liked trying new things.'
When she was around three years old, Mila started tripping over words when she spoke. Around the time, one of her feet started turning inward involuntarily.
Batten disease, also known as Neuronal Ceroid Lipofuscinoses, is a rare genetically-inherited disease.
It is caused by waste buildup in the cells which creates neurodegnerative effects including:Blindness Seizures Personality changes Dementia Loss of motor skills and the ability to walk, talk and communicate
Because it is a rare disease, it is often difficult to diagnosed and untested at birth.
Ways to diagnose:Blood or urine tests Skin or tissue sampling DNA analysis Electrical studies of the eyes
There are 14,000 children worldwide that are diagnosed with the disorder.
There is currently no known cure for Batten disease.
At four, she started to pull books in close to her face when she reading them.
At five, Mila started having trouble walking and would fall backwards.
Julia and Alek took Mila to neurologists, behavior specialists, ophthalmologists, but no one could provide them with a diagnosis.
'At least one doctor said: "Relax, your daughter's fine",' Julia recalled.
When Mila lost her sight, her parents decided to go to Children's Hospital Colorado for answers. It was there that she was diagnosed with Batten disease.
Batten disease, also known as Neuronal Ceroid Lipofuscinoses, is a rare