According to a story from People Magazine, parents Deborah and Antoine Vauclare were devastated when they found out that their son Léo was born with an incredibly rare genetic disorder called infantile neuroaxonal dystrophy. Kids that are born with it rarely survive beyond their first decade of life. With their son now being two years old, they know that they are running out of time to try to save him and find treatment.
About Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a genetic disorder characterized by progressive neurodegeneration which begins to appear early in life. It is classified as a lipid storage disorder. The disease is linked to mutations of the PLA2G6 gene. This gene is important for the metabolizing of phospholipids, a vital process for normal body function. Symptoms of infantile neuroaxonal dystrophy include muscle wasting, regression of early developmental skills, dystonia, seizures, dementia, vision impairment, and wasting syndrome. There is a broad range as to when symptoms can first appear, from as early as 18 months to as late as six years of age. Patients eventually lose the ability to move or interact with the world around them. There is a dire need for disease modifying treatments; currently, management is only symptomatic. The disorder is ultimately fatal. To learn more about infantile neuroaxonal dystrophy, click here.
Léo’s Story
Only about 150 around the world have ever been diagnosed with infantile neuroaxonal dystrophy, which highlights just how poorly known and rare this disorder actually is. Regardless, Deborah and Antoine have not been wasting their time or twiddling their thumbs. Once they realized what disorder Léo had, they reached out to the INADcure Foundation which was founded by the family of another child that was born with the disorder.
Thanks to their efforts, Léo was the first child to be part of a clinical trial testing an experimental drug called RT0001 as a treatment for the disease. It had only been a month since he has been part of the trial, so it is too early to tell if the therapy is helping him yet.
Deborah and Antoine have also started a campaign called Bisous For Léo (Kisses For Leo) which aims to raise over $500,000 for research into new treatments for infantile neuroaxonal dystrophy. If you would like to contribute to the campaign, click here.
