When Deborah, a New Yorker, flew over to Paris to do an internship for an architecture office, she never knew she would be flying across the world and meeting the love of her life: her boss at the office, Antoine.
Unfortunately, several years later after the birth of their first son, she would cry in disbelief that she went all the way to France to find someone who was the same genetic carrier as her for an extremely rare genetic variation of an impaired PLA2G6 gene. This very rare impairment is what led to their first-born son Leo having a disease so rare that only 150 babies in the world are known to have it.
This rare disease has been compared to having Parkinson’s and Alzheimers for a child. It is a neurodegenerative condition called infantile neuroaxonal dystrophy (INAD).
Currently there is no treatment or cure for Leo’s condition.
Leo was born a healthy weight and developed normally for the first year. However, he was eventually diagnosed with “global delay” when he did not meet certain milestones in his development. For example, he did not take his first step until he was 14 months old. Even then, he could only walk a few steps before falling down. He was nonverbal as well. Initially, pediatric doctors thought he had autism. Then one provider suggested genetic testing.
After getting their bloodwork done, Paris doctors told Antoine and Deborah their son’s diagnosis and his life expectancy. Without treatment, Leo is only expected to live 5 to 10 years.
This was a devastating blow to both parents. Antoine says he had to try to change his mindset and understand that he only had a few years with his son. Deborah was also completely devastated and had to go on bed rest; she was seven months pregnant with her second child, a little girl named Eva. Eva had a 25% chance of also having INAD, but after some testing while Deborah was pregnant it was determined she would be born a healthy baby girl.
“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.” Antoine says.
Leo’s parents wasted no time after his diagnosis and two weeks later, got in touch with US doctors to to learn about gene editing and enzyme replacement. They also stay in contact with another little girl’s family who has INAD.
Now the couple has launched a campaign called BisousForLeo.org (“Kisses for Léo”). The campaign has a goal to raise half a million dollars. Celebrity Stars like Eva Longoria, Isla Fisher and Zoe Saldana have lent their support. So far, $98,000 has been donated and all the money will go to funding scientific research for treatments and a cure for INAD and related disorders.
Antoine says the couple is “cautiously optimistic.”
One London university is doing a study to determine the effects of a gene therapy on mice with INAD. Another Doctor has an antidepressant desipramine trial that has just been approved by the FDA for people with neurodegenerative diseases.
Antoine and Deborah are leaving no stone unturned in their pursuit of a treatment and a cure for their son.
Read the full story here.