Batten Disease: Gene Therapy Offers Hope For Boulder Girl

BOULDER, CO — A year ago, doctors told Julia Vitarello there was no hope and her 7-year-old daughter, Mila, would die from Batten disease, a ruthless neurological disorder for which there is no known cure. Like a thief in the night, the disorder appears without warning and, as Mila’s mother puts it, “robs normal children of everything.” But in few days, doctors will begin a first-ever treatment that may save her life.

“Mila could be your child,” Vitarello wrote on the crowdfunding site GoFundMe. “She splashed in the pool, begged for chocolate ice cream, and sang her favorite songs. She rode bikes. She skied.”

Something changed when Mila was 3. She started getting stuck on words, couldn’t finish sentences and one foot turned inward. At 4, she started pulling her books close to her face. When she was 5, she would occasionally fall backward and move her feet in an unusual way her mother describes as “pit-patter” — basically a frantic, involuntary stepping movement that would cause her to fall over. By the time she was 6, she could no longer see.

Doctors finally diagnosed her with Batten disease, named for the British pediatrician who first described it in 1903, and braced her family for what the inevitable: The disorder is a death sentence.

“Our hearts stopped,” Vitarello wrote in a blog on Mila’s Miracle Foundation, which she and her husband, Alek Makovec, established to help find a cure for Mila and other children diagnosed with the grueling disease.

“Watching our rambunctious and talkative Mila bug lose her abilities is something beyond words,” Vitarello wrote on her blog six months ago. “But we make a conscious effort to make every day fun and keep her engaged. Despite the immense challenges she faces, Mila astonishes us with her endless smiles and laughter, reminding us how ALIVE and STRONG she still is! She giggles in excitement as she rides atop the therapy horse or splashes in the lake pretending to be a mermaid. And she never gets enough of her brother’s stories and jokes.”

Amid all the devastating news came a glimmer of hope that, over the past year, has brightened the path for Mila’s family and others like them.

Mila's story caught the attention of a group of scientists in Boston who had an idea for a genetic therapy that could stop, or even reverse, Mila's disease. However, to move it ahead, they needed to raise money — a lot of it.

What happened next is close to the miracle Mila needs.

The story that has unfolded on the crowdfunding site GoFundMe demonstrates the power of community, both on the local level in Boulder and around the world. Donations were made and matched in the tens of thousands of dollars. In just one example of corporate goodwill extended to the family, the Cleveland, Ohio-based luxury aircraft company Flexjet scrubbed one of its private jets clean and flew Mila and her family to Boston for an assessment so her trip would be as comfortable and germ-free as possible.

“Mila's tribe” is now more than 5,000 people strong from 52 countries. Together, they have raised more than $1.5 million needed to start the initial treatments.

Kids, especially, rallied for Mila.

“Every week we receive photos and stories from children who want to help her — raising money and awareness through lemonade stands, bake sales, and family plays; decorating jars to collect money at their schools; donating everything saved in their piggy-banks; choosing Batten Disease for school projects,” Vitarello wrote.

Initially, they “steered away” from Mila.

“They just didn’t understand why she seemed different. So I decided to go into her preschool and explain to her classmates that Mila use to run around, climb walls and sing just like them,” Vitarello wrote. “That it wasn’t her fault, but now things like seeing, walking and talking were much harder for her. Since then, the kids have been drawn to Mila — they pull her onto their laps at storytime, hold her hands, help her feel soft fabrics and tell her what they see in the playroom. Mila lights up.”

The treatment was to have begun Monday, but Mila developed a stomach bug Sunday night. Though she woke up the next morning feeling fine, but tired, the medical team pushed the treatment back a few days just to be on the safe side.

Many questions loom about how she will respond.

“Will she improve? Will she flatline? Or will she get worse or have a bad reaction?” her mother wrote on the blog. “The treatment is so new that there is no way to predict the outcome, and each possibility is real. We are scared. But at the same time incredibly grateful that we are in this position.

“We hope and pray for improvement. It will likely take time to see how she responds, and there are restrictions around what we can report once the treatment begins. We will be concentrating on Mila over the next few months, but please know how grateful we are to each and every one of you for helping us get here.”

More About Batten Disease

Batten disease is the most common form of a group of disorders called the neuronal ceroid lipofuscinosis, or NCL. In short, genetic mutations disrupt the ability of cells to dispose of waste and throws cells out of balance with the buildup of proteins and fats.

An estimated 2 to 4 of every 100,000 children born in the United States have Batten disease or other forms of NCL, and these disorders often strike more than one person in families that carry the defective genes, according to the National Institutes of Health. Most kids who have it don’t live past their teens or early 20s.

In its adult form, Batten disease is known as Kufs.

Patch has reached out to Mila’s parents. We’ll update this story if we hear back.

Main image: Alek Makovec, Julia Vitarello and their children, Mila and Azlan, via GoFundMe