One of Léo Vauclare’s favorite bedtime stories is “Be Brave Little One,” about a parent’s hopes for a child’s journey through life.
“When I look at you, shining bright as the sun, I wish for you this … be brave, little one!” writes Marianne R. Richmond. Léo certainly has courage. At two-and-a-half, he’s fighting a rare genetic disease that doctors have described as “Parkinson’s mixed with Alzheimer’s for kids.” The neurodegenerative condition, called Infantile Neuroaxonal Dystrophy (INAD), has no known treatment or cure. Only about 150 children worldwide are currently diagnosed with the disease. Like other neurodegenerative diseases, it leads to a dangerous iron buildup in patients’ bodies, leading to poor motor function, involuntary eye movements, seizures, hearing loss and difficulty swallowing and breathing. Heartbreakingly, the life expectancy for such children is often just 5 to 10 years. But that hasn’t stopped Léo’s parents, Deborah and Antoine, from doing everything they can. “When you have a sick child, that’s what you do,” Deborah, 37, tells The Post. Now the couple has launched a campaign called BisousForLeo.org (“Kisses for Léo”) to raise an initial half a million dollars. Stars including Eva Longoria, Isla Fisher and Zoe Saldana have lent their support. The money — $98,000 has been donated so far — will fund scientific research for treatments and a cure for INAD and related disorders.
“People are busy working on cures such as gene and enzyme-replacement therapy,” Deborah says. Antoine, 44, adds, “We’re lucky that it’s a time when scientists are starting to find something — but we are still unlucky, because [Léo’s diagnosis] is too soon.” The pair was overjoyed when they welcomed their 8-pound, 1-ounce baby to their home city of Paris in April 2016. Antoine, who is French, and Deborah, who’s from New York, met six years earlier, when Deborah had crossed the Atlantic to intern at his architecture office. It seemed like a magical, international affair of the heart. But they each carried a rare genetic variation — an impairment in the PLA2G6 gene that helps control the metabolism of cells — which would be passed on to their firstborn. “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,” Deborah says, through tears. Léo developed normally until he was about a year old. That’s when he started having problems, mainly with mobility. “We thought he would walk by his first birthday,” says Deborah, an interior designer. But it wasn’t until 14 months that he started to take his first steps alone. “He would take five or six steps, then — boom! — he’d fall. He was trying his best, but it wasn’t happening. When he was still doing that at 18 months, we were concerned.” Their pediatrician initially diagnosed a global delay (a failure to reach milestones on time), which would likely resolve itself with therapy. But when Léo’s speech began to regress, the Vauclares sought second opinions. “He wasn’t calling us Mommy and Daddy [at all], and that was a big sign,” says Antoine. Experts who met their son came up with suggestions, including autism. Then, a relative in the medical field suggested genetic testing. The couple and Léo, who by then had reverted to crawling and was nonverbal, had their bloodwork done in April. On June 22, Deborah and Antoine were met by distraught faces at their geneticist’s office at Pitié-Salpêtrière hospital in Paris. "They didn’t even explain the disease to us,” says Antoine. “They just gave us the diagnosis.”
Deborah, then seven months’ pregnant with Leo’s sister, Eva, was dumbstruck. “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.” Antoine managed to inquire about life expectancy.
His voice cracking, he recalls: “I asked how long Léo had to live, and they said, ‘We don’t know, but it is shorter.’ I said, ‘Much shorter?’ and they replied: ‘Much shorter. Without treatment, it’s 5 to 10 years.’?” It was a devastating blow — made worse when they learned that there was a 25 percent chance that the baby girl Deborah was carrying would also be affected. In France, terminations can be permitted any time during a pregnancy under certain circumstances. Geneticists scrambled to run tests. Five days later on June 27, the couple received some good news: Their daughter was safe. “I had to go on bed rest because I was a wreck,” says Deborah, who spent her time obsessively Googling INAD and trying to stay healthy, for the baby’s sake. But she was gutted to learn the effects of the disease. “It makes the muscles soft and mushy, making it hard to crawl and walk,” she says. “Then they eventually harden and stiffen. It can be painful.” Antoine was devastated as well. He remembers thinking, “I have to reset my brain .?.?. Léo was only going to be with us for five, six, seven, 10, 11 more years — that’s it. There’s no hope.” But soon, the couple would feel a little less alone. Two weeks after Léo’s diagnosis, they connected with the INADcure Foundation, a US-based nonprofit run by parents of an afflicted 4-year-old girl in Fairfield, NJ. They put the Vauclares in touch with a number of doctors whose research into the fields of gene editing and enzyme-replacement have provided rays of hope for the couple. Last week, Léo started to take part in a limited clinical trial at the Goryeb Children’s Hospital in Morristown, NJ, for a drug called RT0001. If all goes well, the medication will slow the progression of Léo’s disease by regulating the buildup of iron within his cells. “We’re cautiously optimistic, and we’ll see how it goes,” the leader of the trial, Dr. Darius Adams, tells The Post. As for Léo, he doesn’t know he’s ill, although he sometimes gets frustrated at not being able to walk. He continues to be a happy child who loves his baby sister, Eva, born in August. “He’ll kiss her and is curious about her,” says Deborah, who has yet to find out if Eva, like her parents, is a carrier of the disease. “When she cries, he crawls over to her because he is concerned.” He adores colorful picture books, and follows a healthful diet that excludes polyunsaturated fatty acids, found in vegetable oils and nuts, because it could possibly interfere with the medicine he receives. The Vauclares are leaving no stone unturned in their pursuit of treatments and a cure. “We’re trying to push the urgency to these scientists, doctors and researchers because we are on a time crunch,” says Deborah, who is pinning hope on the “Bisous for Léo” campaign to fund research as far afield as St. Louis, Mo., and London. “Otherwise, Léo is not going to live.” INAD innovations Doctors around the world are researching possible treatments and cures for INAD, which could help adults with other more common neurodegenerative diseases, including Parkinson’s and Alzheimer’s. Here are some highlights:
•? A team at London’s University College is investigating the use of gene therapy in mice with INAD. Dr. Manju Kurian, the lead researcher, tells the newsletter of the Neurodegeneration With Brain Iron Accumulation Disorders Association: “These studies have effectively demonstrated that gene therapy is a technology that can have significant therapeutic benefits in terms of life span, movement, coordination and overall quality of life.”
•? In St. Louis, Mo., neurologist Paul Kotzbauer is investigating the use of gene editing or enzyme-replacement therapy to control the buildup of the alpha-synuclein protein, which affects the central nervous systems of people with INAD, Parkinson’s and Alzheimer’s.
•? At Baylor College of Medicine in Houston, Hugo Bellen, Ph.D., is researching how mutations in certain genes cause degeneration. The FDA has already approved his team’s “compassionate use” trial of the antidepressant desipramine, which could help adults and children like Léo Vauclare with neurodegenerative diseases.
