‘The geneticist who’s been doing this for 40 years had never heard of the condition when she told us that Eli has it.’
“Eli was born in April 2019 and at first everything seemed normal. Shortly thereafter, we just sensed that something didn’t feel right. Doctors said it’s colic or he’ll outgrow this. On July 4th, 2019, I took him to the hospital and said, ‘I don’t know what’s wrong with him, but there’s something wrong.’ He stopped eating, he was screaming all day and night…I didn’t know what else to do. One specialist said we should do a brain MRI and the finding was that there was abnormal development in the front of the brain. That led us to do a genetic test and a couple of months later we had the diagnosis of FOXG1 syndrome, a brain disorder that causes an abnormal amount of the FOXG1 protein to be developed.
I remember asking her, ‘Is there any hope that there could be a treatment?’ She basically said, ‘I’m sorry, but there is no hope.’ Through the tears, we knew immediately we were not going to accept that fate.
“In Eli’s case, he only has approximately half of this protein that is really critical for cognition. The disorder is marked by an inability for most patients to walk, talk, feed themselves, to basically do anything independently. Literally everything is impacted. The geneticist who’s been doing this for 40 years had never heard of the condition when she told us that Eli has it. We learned that, at the time, there were less than 700 patients in the world that are known. I remember asking her, ‘Is there any hope that there could be a treatment?’ She basically said, ‘I’m sorry, but there is no hope.’ Through the tears, we knew immediately we were not going to accept that fate.
“So, we started a foundation focused on bringing a therapy to the clinic. We made it our mission to recruit the top scientists to help us come up with ways we could solve this problem. Our preliminary data is showing that this condition may be reversible if we get to the children early enough while the brain is still developing. This is very much a Long Island story for us because so many of our friends and family right here, in the place that we both grew up, have been in the arena with us. We are grateful to have a community of people who have made this cause their own. At the same time, we still have a lot of work to do. The path to the clinic has been very challenging — but we are not going to give up. And since time is of the essence, we don’t have the luxury of walking. We have to run.”