Parents Speak Out on Their Search to Find Cure for 2-Year-Old Son's Rare, Fatal Disease
Two parents are in a race against time to find a cure for their 2-year-old son who was diagnosed in 2018 with a rare and fatal disease.
The condition, Neuroaxonal Infantile Dystrophy, is a disorder that affects the nervous system, and has a life expectancy of 5 to 10 years. There are only 150 children worldwide who have been diagnosed.
As the years go on, children experience “progressive deterioration of cognitive functions (dementia), and they eventually lose awareness of their surroundings,” according to U.S. National Library of Medicine.
Deborah and Antoine Vauclare first met in 2010 when Deborah left her home in New York for an internship in Paris. She met Antoine at her new office and the two began dating. They continued a long distance relationship when she returned home.
“I felt like I wanted to give it a second shot,” says Deborah, 37, who now works at the Joseph Dirand architecture firm in Paris with Antoine, 44. “We went back and forth for several years and we discussed moving there permanently and having a kid.”
At first, Antoine was hesitant to have children, and Deborah made it clear that she wanted to be a mother.
“We loved each other and needed to take a chance,” she says.
They got married in May 2014, and Deborah became pregnant a year later. Looking back, she says it was the best nine months.
“I felt great and I loved being pregnant,” says Deborah, 37. “At all the ultrasounds and visits everything was great and normal.”
The couple welcomed their son Léo on April 26, 2016. “Everyone was happy and amazing,” she says. “I had this beautiful boy. I felt so fortunate.”
But within months, things drastically changed. Deborah and Antoine, 44, began to notice that Léo wasn’t hitting his milestones. When he turned 1, he was still crawling, and doctors said he had developmental delays. After seeing numerous specialists — and realizing that Léo wasn’t improving — that they decided to see a geneticist.
At this point, Deborah was five months pregnant with their daughter Eva, and couldn’t sleep at night wondering about both of her children’s fates. Doctors tested for four genetic disorders related to development issues, and also did an amniocentesis on their daughter.
“We were waiting for both the results at the same time,” says Deborah. “It was awful.”
Three weeks later, they were told Eva was fine, but on June 22, 2018, doctors from the Pitié-Salpêtrière hospital in Paris called about Léo.
“I knew it was bad right away because they asked us to come in,” she recalls. “My husband was in the U.S. for work, so he flew home immediately. The second we walked in and saw the doctor’s face we knew they found something. I couldn’t talk. It was a short meeting.”
The couple found out that they both were carriers for a rare genetic variation — an impairment in the PLA2G6 gene — and passed it along to their child.
Deborah and Antoine were told that Léo only had a few years to live, and they immediately jumped into action to try and save his life. They reached out to the INADcure Foundation, a U.S.-based nonprofit that was created by the parents of a 4-year-old girl in New Jersey who also has the disease.
And during a recent trip to New York, Léo was the first child to be part of clinical trial at the Goryeb Children’s Hospital in Morristown, New Jersey, for a drug called RT0001.
“It’s only been a month, so we have no idea if it’s helping yet,” says Deborah. “We can only hope.”
The couple also started a campaign called BisousForLeo.org (Kisses for Léo) to raise the $500,000 they will need to fund crucial research projects to help find a cure. So far they’ve raised $160,000.
Léo no longer speaks and can’t hold himself up on furniture any longer, but he’s still able to smile at his baby sister, and when she cries, he crawls over and becomes concerned.
“He will give her a kiss,” says Deborah. “It’s very cute.”
While Deborah is still on maternity leave, Antoine works a long day and comes home to help with the kids. And after they put them to bed, their night is far from over.
“We then start calling doctors and researchers,” she says. “We can’t waste time. We need to raise a lot more money, gain awareness and hopefully treatment.”
There are moments, says Deborah, when Antoine “breaks downs, and there are moments when I do.”
“We have to push forward,” she says, “for our kids.”