6-Year-Old Boy with Parkinson's Mixed with Alzheimer's Might Not Survive His 10th Birthday

The family of a 6-year-old boy with a rare condition, which may only be described as Parkinson's mixed with Alzheimer's, is praying for a miracle that will allow him to live beyond his 10th birthday.

Leo Vauclare has been diagnosed with infantile neuroaxonal dystrophy (INAD) when he was 2 years old. His disease is so rare that only 150 kids across the world are confirmed to have this condition, per Insider. 

Because not much is known about INAD, there are also few options for the treatment. So, Leo's parents, Deborah and Antoine Vauclare, enrolled the boy in a drug trial in New Jersey. However, the trial was short-lived because the company running it lost funding. Leo lost his lifeline.

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What is Infantile Neuroaxonal Dystrophy?

Infantile neuroaxonal dystrophy is a genetic disorder that may start presenting symptoms when the child is six months old. It's characterized by the regression of motor functions and intellectual capacity.

A child with INAD also experiences diminished muscle tone and spasticity or when the muscles stiffen. INAD patients may also present vision problems and issues with the nervous system. In some cases, the children may have seizures and the symptoms' progression could be very fast with fatal outcomes, per Raregenomics. 

INAD is mainly caused by an inherited gene mutation that impacts the breakdown of the enzymes in the body. This means that kids with Parkinson's mixed with Alzheimer's do not have properly functioning enzymes that are necessary to break down the body's fats and so this builds up and causes problems to the nerve cells and the brain.

Deborah and Antoine noticed Leo's health issues around his first year. While he could still crawl, the parents saw that their son wasn't hitting his developmental milestones.

They consulted with specialists who could not pinpoint what was wrong with Leo so they were referred to a geneticist. Unfortunately, Leo tested for four genetic disorders and because Deborah was pregnant with her second child at that time, they also did an amniocentesis to determine if the fetus would have the same health issues. Their daughter, Eva, tested negative for any genetic problems, per People.

Leo can't join other drug trials

Worse than the diagnosis for Leo, the Vauclare parents were told that their son might not live to see his 10th birthday if there is still no treatment available. There are at least three drug trials for INAD in the U.S. but Leo could not be accepted as his Parkinson's Mixed with Alzheimer's symptoms are in the advanced stages.

"[The trial] would not only not help him but probably make it even worse," the mother said.

At this point, Leo is feeding via a tube and his body is supported by a special molded seat. According to the INADcure Foundation, they need to raise $7 million for a new gene-therapy development that may be more ideal for Leo. They are hopeful that this will be ready in 24 months, but the clock is running for the 6-year-old.

"The only thing I can really do now is to hold him for as long as I can," Deborah said.

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