When we got Josie’s FOXG1 syndrome diagnosis in 2014 there were fewer than 100 people in the world known with this condition and there was no concerted research happening.
I felt pretty helpless.
Fast forward to today: we know of more than 1000 people with FOXG1 syndrome, and scientists from California, New York, England, Italy, Japan, to Australia are working towards a cure.
At the center of all the science is the FOXG1 Research Center of Excellence at the University at Buffalo run by Dr. Soo-Kyung and Dr. Jae Lee, with a staff of more than 20 people.
We are so lucky to have a lab this size working solely on FOXG1. We’re actually one of the only rare disease groups with a focused lab working on one genetic disorder. It’s pretty amazing.
I recently visited the Lee Lab with our lead donors, the Hortons, who are FOXG1 grandparents to Gianna. Tom Horton was the former CEO of American Airlines and quickly joined our Foundation after Gianna’s diagnosis. He has helped us grow from a start-up to a formidable global organization. The Horton's have become a part of our FOXg1 family. We were also joined by Gianna’s other grandparents, who happen to live in Buffalo, and our new drug development officer, Dr. Gai Ayalon.
I talk about the Lees a lot. They’re not only the world’s leading experts on the biology of the foxg1 gene and the genotypic / phenotypic correlations, but they’re also FOXG1 parents to Yuna.
What are the odds that the scientists leading the largest lab dedicated solely to FOXG1 syndrome are also FOXG1 parents?
This combination is so unique and so powerful. Check out this New York Times video about them from when we were just getting started.
Our lead scientists are not driven by money or publications, they’re driven by the promise to help their own daughter, which in turn means helping so many others like her.
The gene therapy they are working on will be injected into Yuna. Safety and efficacy are not prioritized by drug companies, they’re prioritized by mom and dad.
Every young scientist working in the Lee Lab has Yuna in mind. They put the child, her brother, and her parents into everything they do.
This is unique. We are lucky.
While we toured the facility, each lab member was excited to tell us what they do every day and what they’re passionate about. It’s not just a job to them. They’re part of the FOXG1 family. They were talking about the team picnic that was happening that weekend. It included pickleball!
It was great for the Hortons to meet Dr. Gai Ayalon, our new Chief Drug Development Officer. How cool is it that we are at the point on the roadmap that we need a Chief Drug Development Officer? We must make sure we’re designing our programs for clinical trial approval with the FDA. Gai is that guy. We’re lucky we found him and that he joined our team.
I keep saying, while the day we got Josie’s diagnosis did not feel like a fortunate event, every step of the way since has been a series of fortunate events.
From meeting Nasha, my brilliant co-founder of the FOXG1 Research Foundation, to Ryan (crosby's dad) joining us, to connecting with Lee’s, to meeting the Horton family, to everyone who has joined our team.
Our team is a family.
My favorite part of the trip to Buffalo was meeting Yuna and her brother, Joon. Once again I am convinced that beauty, cuteness, and joy is a characteristic of FOXG1 syndrome.
Joon stole my heart. He asked me many questions about how I decided to write “Joyfully Josie.”
When he asked me to sign it for him, I said, ”look, I already signed it.”
So he said, “will you sign it in the back too?”
I feel like being asked to sign my book twice is something I should add to my LinkedIn profile. Double signatory children’s author?
This trip to Buffalo made me feel something I haven’t been able to describe with words. and then Janet Horton summed it up perfectly in an email,
"What amazing things we saw and learned! Tom and I were both in awe and very encouraged. And it was really wonderful to spend time with you and the Lees and to meet and get to know Gai. It was a huge blessing."
This journey is a series of fortunate events. A true blessing.
