Long Island family raises awareness for rare disease: What is FOXG1 syndrome?

LONG ISLAND - Millions of Americans suffer from a rare disease that can make finding cures and treatments difficult. 

For a family on Long Island, it’s personal, so they are doing all they can to raise awareness.

Why you should care:

For 7-year-old Emmy Reich and 3-year-old Dylan, their brother Eli is the glue that holds them together.

As for their parents, Scott and Alissa, he's the reason they continue to fight.

"He’s an innocent little boy who didn’t deserve the outcome," Scott Reich, CEO for Believe in a Cure, said.

Now Eli is 5-years-old, he has just learned how to sit up on his own, but he won't be able to walk or talk. 

He’s one of about 1,000 in the world born with FOXG1 syndrome - a rare genetic disorder that isn’t tested for in utero. 

"Eli's brain doesn't make a certain amount of protein and because he doesn’t have enough of this protein, his whole nervous system is out of whack," Reich said.

What is FOXG1 syndrome?

According to Believe in a Cure, FOXG1 syndrome is a rare neurodevelopmental disorder resulting from mutations in the FOXG1 gene. 

It presents with a diverse range of symptoms that vary in severity. 

The most common effects include epilepsy, movement disorders, and significant neurodevelopmental challenges impacting cognition, motor skills, speech, and vision.

What's next:

Since 2021, the Reich's who founded Believe in a Cure have raised millions to fund scientists on four continents to find a cure. 

"We have developed cell lines and mouse models and even a monkey model, and we've developed all different types of drugs," Reich said.

The hope is to treat their first patient in 2027 with the ultimate goal of finding a way to increase the protein Eli and others with FOXG1 are deficient in.

"This could be unbelievably transformative for patients that are suffering from this disease," Reich said.

And it’s not only science - the nonprofit is offering therapy sessions for rare disease caregivers in New York through a new program BelieveWell. 

"This is a population that doesn't get enough attention and support institutionally," Reich said.

They’re also giving grants to rare disease families across the state to buy specialized medical equipment.  

The backstory:

"There are over 10,000 rare diseases and that means there are between 30-40 million Americans who are carrying a rare disease," Reich said. 

While World Rare Disease Day is just one day out of the year for most people, for the Reich family it's a way of life.

"I think it's incumbent upon us as a society to figure out how to make these lives better," Reich said.

Reich is committed to helping his son and everyone impacted by the condition. 

"I’m not going to rest until we have a treatment," Reich said.