Nicole Zeitzer Johnson, whose daugher Josie has FOXG1 syndrome, on mission to promote disability inclusion

Four months after her daughter, Josie, was born, Nicole Zeitzer Johnson noticed that she wasn’t tracking with her eyes the way children her age were supposed to.

“That was my first sign that she was delayed,” said Zeitzer Johnson, 50, of Port Washington. “Then at her six-month pediatrician visit, we like to say that she failed with flying colors.”

Several rounds of MRIs and genetic testing followed, but the results all came back normal, she said. Then when Josie was 2, Zeitzer Johnson recalled reading a newspaper story about a boy in Texas who had a rare disease discovered with whole genome sequencing. After searching for a doctor to run the tests, Zeitzer Johnson and her husband, Richard, finally got their answer: Josie had FOXG1 syndrome, a rare neurological disorder that can cause epilepsy and cognitive, motor, speech and visual impairments.

“I remember sitting in the geneticist’s office at Columbia University, and they said, ‘Josie has FOXG1.’ And at that time, there was nothing known,” said Zeitzer Johnson. “I said, ‘What’s the lifespan?’ And the doctor said, ‘Teens at best.’ And I just remember the room closing in.”

A BOOK AND A NONPROFIT

Since that stunning diagnosis 11 years ago, Zeitzer Johnson has become an advocate for Josie and other children like her. In 2017, she co-founded the FOXG1 Research Foundation, a nonprofit focused on developing gene therapies that she hopes will one day treat — or even cure — the disorder.

The foundation — which has chapters in France, Spain and Australia — received a nearly $500,000 grant from the Chan Zuckerberg Initiative to pioneer a new method to study patients with FOXG1 and track their progression, which Zeitzer Johnson said they did using medical records instead of an in-person clinical study.

The foundation also celebrated in September the opening of a FOXG1 research center at the University of Buffalo, and Zeitzer Johnson said gene therapy trials in mice have shown promising results. The hope is to begin clinical trials in humans by 2026.

Last year, she published a children’s book, “Joyfully Josie,” aimed at promoting understanding and acceptance of kids with disabilities. And now, she has launched a new education program to teach disability inclusion to teachers and students.

Josie, now 13, loves listening to music and laughing. But more than anything else, said her mom, “She loves to be included.” Zeitzer Johnson’s efforts are a way to ensure children like her daughter have that chance: “If you foster empathy in children at a young age, it’s key to shaping that child’s life,” she said.

UNDERSTANDING FOXG1

FOXG1 syndrome is caused by a genetic mutation. While parents can be carriers, in most cases there is no prior family history.

“FOXG1 is a gene that is especially important in the brain, as the protein it produces controls the activity of other genes — one of many conductors in the symphony of our brain’s functions,” said Dr. Orrin Devinsky, a neurologist and the director of NYU Langone Health’s Comprehensive Epilepsy Center. He also serves on the scientific advisory board for the FOXG1 Research Foundation.

When Josie was diagnosed, she was the 92nd person known in the world to have the mutation. That number has since expanded to 1,200 worldwide.

The disorder can manifest in a variety of ways, but for Josie it means that she can’t walk or talk and needs a feeding tube, said Zeitzer Johnson. She can communicate by leaning left and right to answer questions and she can also spell by leaning to the correct letter, her mom said. She attends Nassau BOCES Carman Road School in Massapequa for physical, occupational, speech and vision therapy.

Josie, like many people with the syndrome, has epilepsy and takes four seizure medications. They have kept her seizures under control, allowing her to thrive in school and at home, her mom said.

And while she cannot walk, Zeitzer Johnson said her daughter loves to swim. “She has a special float that goes around her neck, and we can let go of her and she’s just free,” she said. Josie also practices moving herself around with a walker and an adaptive bicycle, she said.

A BOOK FOR KIDS

Zeitzer Johnson, who has a background in music and TV production, said she was inspired to write a book about her daughter after observing how other children reacted to Josie.

“I always notice that young children look at Josie and they’re so confused,” she said. “Parents are afraid of saying the wrong thing, but I want everyone to feel comfortable, including Josie.”

The picture book, “Joyfully Josie,” features Josie and her mom at a playground, where the other children don’t understand why the girl is in a wheelchair or can’t speak. The book explains FOXG1 syndrome and how it affects Josie, but also strives to show how she embraces life.

“You’re so happy Josie,” one boy says. “Even with all your disabilities, you love to see the joy all around.”

Zeitzer Johnson recently read the book to students at Guggenheim Elementary School in Port Washington, which both she and her son, Tanner, 17, attended.

At the Oct. 17 reading, she encouraged students to share their experiences with people with disabilities and fielded questions about Josie.

“Almost everyone who raised their hand knew someone in a wheelchair or who needed assistance getting around, or had a learning disability that couldn’t be seen,” Zeitzer Johnson said. “They also asked how Josie gets around, what she eats, what she enjoys doing and if she’ll get better. I told them that she can’t walk right now but hopefully one day she will, and that we can show people kindness and inclusion every day.”

ONLINE COURSE

When Neil Toprani, of Key Biscayne, Florida, read “Joyfully Josie,” which has illustrations by David Concepcion, he said he felt it could be used as an educational tool. Toprani is the chief executive and founder of TeacherVillage, an online community that supports educators. In 2023, he helped Zeitzer Johnson build a curriculum to teach children and teachers about disability inclusion.

The result is Live Joyfully Education, a self-paced, interactive online course that includes video, Q&A and hands-on exercises, said Toprani. In-person workshops are also offered.

“The education is geared towards early elementary but the course is beneficial at any level, including for adults,” he said.

The course is approved for use in more than 20 states, including New York and New Jersey. Locally, it has been adopted in the Port Washington school district, which has already held two elementary schoolwide assemblies.

Special needs educator Gina Spagnoli, from upstate Pleasant Valley, assists with the Live Joyfully Education.

“Teachers go to so many professional developments during the school year and they’re not always applicable to everyone. We created something that can immediately be implemented in the classroom and gives teachers a chance to role-play difficult situations,” she said. “All teachers need CTLE (Continuing Teacher and Leader Education) hours to continue their profession, and this meets those requirements as well as credits for DEI [Diversity, Equity and Inclusion], and SEL [Social Emotional Learning].”

For the web course, teachers can go online, take the course and get the credit, but the in-person professional development is districtwide. Another part of the program offers a “train the trainer” concept.

“If there’s a district in Arizona that wants to bring Live Joyfully Education in for their districtwide development day, we can find a teacher there who specializes — a teacher who’s passionate about inclusion and special education — and we’ll train the trainer so that they can do the Live Joyfully course there,” said Toprani.

“We also have a lesson planner in the early phases of development,” he added. “We want the teachers to lead this, that’s why our approach is unique.”

As Zeitzer Johnson advocates for disability inclusion, she has also remained focused on the research foundation, which she cofounded with another FOXG1 parent, Nasha Fitter.

When her child was diagnosed, Fitter said, “I never heard about the condition, so I looked online for resources and that’s when I saw an opinion piece that Nicole had written. It was just so positive and made me feel more optimistic.” She contacted Zeitzer Johnson, and the two formed a community of parents who shared their experiences with FOXG1. They also drafted a strategy called “A Path to a Cure,” which invited scientists to submit applications to create models on gene therapies.

According to Devinsky, the NYU neurologist, gene therapy to help restore the normal protein and its functions is the best chance for a cure or “what we hope will at least be a major improvement” in neurological functions — including cognition and language, coordination and overall quality of life.

Zeitzer Johnson said she and her team plan to grow the foundation, which includes lobbying Congress for more fundraising opportunities.

“We want to continue to move genetic therapies forward and bring awareness to maybe open up the door to other rare diseases that you don’t hear about,” said Zeitzer Johnson. “All the money goes to bigger diseases because, for pharma, rare diseases aren’t lucrative.”

Through all her efforts, Zeitzer Johnson remains focused on why she started this work to begin with: Her daughter.

“Josie is such a gift, and I am so blessed,” she said. “It’s amazing how joyful she is because she goes through so much . . . She is the perspective we all need.”