Port Washington parents launch foundation to cure rare disorder

0
244
Port Washington parents Scott and Ilissa Reich launched their non-for-profit foundation aimed at curing a rare cognitive disorder that affects around 700 people throughout the world, including their own son, Eli. (Photo courtesy of Scott Reich)

Port Washington parents Ilissa and Scott Reich have launched a non-for-profit foundation to find a cure for a rare brain disorder that affects around 700 children throughout the world — including their own son, Eli.

Eli was born in April 2019 to Ilissa, a former sales executive in the fashion industry, and Scott, a lawyer at American Express and adjunct faculty member at the University of Pennsylvania. The two said they noticed Eli becoming more irritable shortly after they came home from the hospital with him.

His parents took Eli to doctors and checked him into hospitals for testing before they learned the root of the problem in September 2019: FOXG1 syndrome.

Most people with the disorder are unable to walk and speak and have trouble doing almost anything independently. The condition stems from mutation in the FOXG1 gene — which is critical for cognitive ability — that causes severe cognitive impairment in its patients.

Even worse, Ilissa and Scott learned, the disorder has no cure, no clinical trials being run and limited existing research on it.

“When we were given this devastating diagnosis, it felt like a repeated gut punch,” Ilissa said. “To learn that your child is not expected to have any quality of life is at once frightening, overwhelming, and crushing. We were told that no treatment exists and that the situation was hopeless — that there was no way to save Eli from this horrible fate.”

Rather than accepting the prognosis, Ilissa and Scott jumped into action, forming their non-for-profit organization, Believe in a Cure. The two reached out to Harvard, Massachusetts Institute of Technology, Tel Aviv University, the University of Massachusetts and the Broad Institute to conduct research.

Initial research showed that treatment is possible thanks to recent advances in gene therapy, gene editing and drug repurposing. The two said they need to raise $7 million through a grassroots campaign to fund the projects that have already begun at the universities.

“The pace of scientific progress these days is so swift, that from the time of Eli’s diagnosis in September 2019 to today, there are already new ideas for how to treat this condition that didn’t exist just 18 months ago,” Scott said. “More important, our preliminary data is showing that reversibility of the condition is possible, which is truly incredible and gives us real hope.”

The foundation, which was publicly launched on April 26 — Eli’s second birthday — has produced cell lines and other models that permit scientists to work with new drugs that could treat the disorder.

Scott said Eli visits doctors on Long Island and in New York City in addition to the out-of-state treatment he receives. The family aims to “collaborate with anyone who can be helpful, and we seek out scientists who have expertise in developing drugs for neurodevelopmental disorders, so we go wherever the expertise lies,” Scott said.

With 20 weekly therapy appointments and constant doctor visits, Ilissa and Scott are well-aware of the sobering reality they face — but they’re committed to fighting tooth and nail to find a cure for their son’s condition.

“We’ve basically had to become scientists overnight while taking care of two kids,” Ilissa said. “… It never ends. We’re fighting to give our son and other innocent kids like him a shot at life, and the clock is ticking on our ability to intervene with a treatment.”

For updates on Eli’s progress and the Believe in a Cure foundation, more information is available at their website: http://www.webelieveinacure.org/.

LEAVE A REPLY

Please enter your comment!
Please enter your name here