A Los Altos mom in November helped procure a $500,000 grant from the Chan Zuckerberg Initiative for a research foundation committed to finding a cure for a rare disease, FOXG1 syndrome.
Nasha Fitter’s 4-year-old daughter, Amara, was diagnosed with the disorder when she was 7 months old. FOXG1 syndrome involves a mutation in the FOXG1 gene – which is critical for neurodevelopment – and can cause severe developmental, cognitive and physical disabilities, as well as epilepsy.
Not much data has been collected on the syndrome, and the grant money will help the FOXG1 Research Foundation do its work and analyze patient data to hopefully one day find a cure.
When Fitter first found out that Amara had the disease, she googled the condition and was devastated. For the first couple of months, it was hard for Fitter to do anything. But then she realized, “We can make a big difference here.”
Fitter, director of rare and neurological diseases at Ciitizen, a Palo Alto-based platform that allows users to collect, share and store their medical records, began meeting with fellow parents of children with FOXG1 syndrome. Only several hundred individuals worldwide have been identified with the mutation. But Fitter and her peers began to fundraise and figure out what research to
Studies for rare diseases are expensive due to the lack of available subjects and coordinating travel for patients. With the funding, the foundation will be able to more efficiently collect data.
Fitter said her daughter is nonverbal, but has been able to start walking.
“We never knew if she was going to walk,” Fitter said. “We’re just hoping and praying that she continues to develop.”
A former tech executive, Fitter said she is amazed by how many parents she has met and the positive energy put toward finding therapies for thedisease.
“That has been a real silver lining,” she said. “I’ve seen a whole new side of the world.”
For more information, visit foxg1research.org.