Long Island families fight for cure for their kids' rare genetic disorder

A video created by Long Island parents Scott and Ilissa Reich introducing the world to their son Eli, 2, and raising awareness for their foundation Believe in a Cure has been garnering attention all across social media platforms. It garnered more than 50,000 views in less than two weeks. 

"We need the power of community to be able to foster the kind of collaboration and support that's needed to drive something forward quickly enough that it will be available — a treatment that will be available in time to intervene for Eli and others like him," Scott said.

Eli suffers from an incredibly rare medical condition called FOXG1 syndrome. FOXG1 is a gene in the brain. People with the syndrome have a mutation in that gene. Unless treatment is found, Eli will never be able to speak, walk, or eat on his own.

"You will never be able to communicate with your son, have a conversation, for him to say 'mom,' for him to walk to you or have those first steps or play a sport or a catch or do anything," Ilissa said.  

Dr. Caroline Martinez is a renowned behavioral and developmental pediatrician at Mount Sinai who works with Eli. She said only 750 people in the world have been diagnosed with FOXG1 syndrome. But she believes the actual number is much higher because many people don't have access to specific genetic testing, especially in underdeveloped countries. Martinez also said the FOXG1 gene is linked to many other disorders, and that a treatment could potentially help millions of people. 

"Not only FOXG1 syndrome itself, but it has a lot of broader implications because there are molecular links in this gene with disorders like autism and Alzheimer's and seizure disorders," Martinez said.

Despite how rare this condition is, just a few minutes' drive from the Reich family in Port Washington lives Josie Johnson, 9, who was also born with FOXG1 syndrome. Her mother Nicole Johnson has also dedicated her life to finding a cure and has founded the FOXG1 Research Foundation.

"She was the 60th person in the world diagnosed with FOXG1 syndrome," Nicole said. "She can't sit up without falling over, she can't take care of her basic needs, she's being fed right now through a feeding tube and she suffers from epilepsy, which is really heartbreaking."

Scott Reich said preliminary research data, based on models with mice, indicate that this disease could be reversible.

"So this is now a question of money and time if we can get there fast enough," he said.

Both families are working their hardest to raise awareness and to remind all of us not to take the simple pleasures of life for granted.