Deborah Ben-David and Antoine Vauclare met when Deborah, from New York, crossed the Atlantic to intern at Antoine’s architecture office in Paris. Six years later, when they had their first child, an 8-pound 1-ounce baby boy named Léo, in April of 2016, they thought he was going to be like any ordinary child, and they were overjoyed to bring him home.
What Deborah and Antoine didn’t know, however, was that they both carried a rare genetic mutation of the PLA2G6 gene, which helps control the metabolism of the cells. Both of these gene mutations would be passed down to Léo, leaving him to fight for his life at a very young age.
“It’s just crazy to think that I went all the way to France and found someone that I fell in love with, and we were both carriers of this rare genetic mutation,” says Deborah.
Léo developed normally until he was about a year old. That’s when he began showing some issues, mostly with his mobility. He didn’t begin walking at a year like he should have, and after learning to take a few steps at 14 months, he didn’t progress any further.
“He would take five or six steps, then — boom! — he’d fall. He was trying his best, but it wasn’t happening,” says Deborah. “When he was still doing that at 18 months, we were concerned.”
The pediatrician initially diagnosed Léo with a simple global delay that would likely resolve itself with therapy. It was believed that he would catch up with other children over time and begin reaching some of his later milestones on time.
However, when Léo’s language began regressing and he stopped saying even simple words like “mommy” and “daddy,” the Vauclares knew something bigger was at play. Doctors believed it might be autism but also performed blood work to check for genetic disorders.
It was then that doctors discovered that Léo had infantile neuroaxonal dystrophy (INAD), a very rare condition with no known cure. It’s so debilitating that it’s been called “a combination of Alzheimer’s and Parkinson’s for children.” The life expectancy for a child with this disease is just five to 10 years.
“They didn’t even explain the disease to us,” says Antoine. “They just gave us the diagnosis.”
Deborah, who was at that time seven months pregnant with Léo’s baby sister, Eva, who also had a 25 percent chance of getting the disease, says, “They said, ‘You will have a million questions, but you are in so much shock’…I did have a million questions, but at that point, I didn’t know what to ask.”
The Vauclares had genetic testing done on their unborn baby and determined that she was safe from the disease. But they were understandably devastated about their son’s diagnosis and spent hours searching online for answers. Deborah even had to go on bed rest because of the stress.
“It makes the muscles soft and mushy, making it hard to crawl and walk,” Deborah says about Léo’s disease. “Then they eventually harden and stiffen. It can be painful.”
However, more hope was yet to come. The family found INADcure Foundation, a non-profit run by a US family with a 4-year-old daughter with the same disease. The foundation put them in touch with several doctors doing research in gene editing and enzyme-replacement.
Léo is now two and a half years old. He has been enrolled in a study at Goryeb Children’s Hospital in Morristown, NJ, where he will receive a drug called RT0001, which is supposed to regulate the buildup of iron in his cells to slow the progression of the disease.
“We’re cautiously optimistic, and we’ll see how it goes,” says the leader of the trial, Dr. Darius Adams.
But for now, all is well for Léo, who doesn’t even know he’s sick except for that he sometimes gets frustrated at his inability to walk. He is a content and courageous child who loves his baby sister and enjoys giving her kisses.
The Vauclare family is still doing everything they can to raise awareness and funds for research that might save Léo’s life. They’ve raised $98,000 so far for cures to INAD and related disorders. “We’re trying to push the urgency to these scientists, doctors, and researchers because we are on a time crunch,” says Deborah. “Otherwise, Léo is not going to live.”
The latest push to raise awareness is an adorable campaign they’ve called “Kisses for Léo.” Check out some of the contributions to the Kisses for Léo campaign in the video below.
Elizabeth Nelson is a wordsmith, an alumna of Aquinas College in Grand Rapids, a four-leaf-clover finder, and a grammar connoisseur. She has lived in west Michigan since age four but loves to travel to new (and old) places. In her free time, she. . . wait, what’s free time?