Thread by @jtemperton

Millions of children are born each year with fatal neurodegenerative diseases. Now, a breakthrough treatment is offering hope of a cure where once there was only a death sentence wired.co.uk/article/milase… #longreads

The story starts in November 2010 with the birth of Mila Makovec, an adventurous and outgoing little girl who loved the great outdoors. Before she turned four, Mila started to develop a range of concerning symptoms.

Mila became clumsy, her speech slowed, she struggled to see. She was eventually diagnosed with Batten, a rare and fatal genetic disease that would likely take her life before she reached adolescence. Faced with this diagnosis, Mila’s mother, Julia, turned to gene therapy.

What followed was a remarkable race against time to develop the first drug designed for just one patient. That drug, milasen, acts a bit like a genetic plaster to hide the tiny but fatal mutation that causes Batten. This is the very definition of precision medicine.

In a few short months, Batten had consumed Mila’s body. She was having 30 seizures a day. Her body was covered in bruises. She could no longer speak. She had been fitted for a G-tube in preparation for the day when she would no longer be able to swallow food.

Administered little more than a year after her diagnosis, milasen slowed the course of the disease and improved Mila’s quality of life. She could eat again and her seizures became shorter and calmer. With assistance, she could even walk again.

It was an incredible breakthrough. But for Mila it came too late. Batten is a brutal disease. As the months turned into years, Mila’s condition started to deteriorate again and she passed away on February 11, 2021. She was 10 years old.

But this isn’t the end of Mila’s story. In the future, the mutations that cause rare, often-fatal diseases could be targeted with precision medicines just like milasen. Her legacy isn't just hope – it's the potential to cure fatal genetic diseases.

As Julia, Mila’s mother told me: “No one wants to hear the story of a dying child. But when it’s told in the light of hope, people want to listen.”

Read the full story here wired.co.uk/article/milase…