Fighting For a Cure
Roseville parents go all-in to help son with rare genetic mutation
By Jessica Laskey
July 2021
Everything was fine—until it wasn’t.
Sophia and Ryan Phillips got pregnant quickly. Every prenatal scan checked out great. Delivery was smooth and they brought newborn son Crosby home in November 2019.
The first thing they noticed was how much he cried.
“He cried for days and days—he was inconsolable,” Sophia says. “You always hear from new parents how exhausted they are, but this was at a different level. We just figured we had the most challenging baby ever.”
At their four-month wellness visit, the new parents expressed concern that Crosby still had crossed eyes. This is not unusual for newborns, but it typically resolves in the first few months. Also, he was not meeting typical milestones such as rolling over, making eye contact or laughing. They visited an eye doctor who suggested a neurological exam to rule out more serious causes for Crosby’s crossed eyes.
An MRI and a slew of genetic testing revealed an underdeveloped brain and a rare mutation in Crosby’s FOXG1 gene—the first and most fundamental gene formed during human development responsible for early brain development. It’s known as FOXG1 Syndrome. And the Phillips’ lives changed forever.
“Upon receiving the diagnosis, the geneticist gave us an analogy,” Ryan says. “Genes are like the letters, sentences and chapters in a book. You can have genetic abnormalities that remove whole chapters, or just one sentence, or just one letter. Crosby’s missing just one letter, so we were hopeful it wouldn’t be all that impairing. But then we looked up FOXG1 Syndrome online and saw other children suffering from it and we were devastated—it was significantly worse than what we’d imagined.”
FOXG1 dysfunction has been linked to conditions including autism, Alzheimer’s, schizophrenia, epilepsy and cerebral palsy.
“Ryan and I have been through a lot together, but I finally understood why people commit suicide,” Sophia says. “Why would I want to live—why would I want my child to live—if he’s going to have to go through this?”
After wading through the initial shock and grief over the loss of their imagined future, the Phillips got to work.
“We went from grieving to the rebirth of our reality and an acceptance of that reality,” Ryan says. “A large part of that was identifying what occurred, what the gene’s role and responsibility is and identifying ways we could potentially intervene and improve Crosby’s quality of life.”
The Phillips dove into the science, joined groups of fellow parents with children suffering from FOXG1 Syndrome and prepared for the fight of their lives.
They sent samples of Crosby’s skin cells to an international repository that researchers draw from to study rare diseases in children. They looked for advocacy groups to join to help raise money for research. They found the FOXG1 Research Foundation, a global organization that connects a scientific advisory board of neurologists, geneticists, clinicians, scientists and bio-pharmacy executives to families hoping to find a cure.
With his background in finance, Ryan now serves as the organization’s CFO. He and Sophia are determined to share Crosby’s journey to help raise research money for the foundation through a GoFundMe page. They give hope to other families adjusting to their new reality.
Crosby’s cells are now being studied in labs at several institutions, including UC San Diego, University of Buffalo in New York, King’s College in England and Center for Gene Therapy at Nationwide Children’s Hospital in Ohio.
“Our goal is to make sure that there are therapeutics being developed that work for Crosby’s specific mutation,” Ryan says. “We’re doing this to help Crosby and impact anyone suffering from FOXG1. It’s an emotional rollercoaster and we don’t want anyone else to have to go through it—but if they have to, we want people to know there’s relief at the end of the road.”
For more information, visit gofundme.com/f/crosbyscure or foxg1research.org.
Jessica Laskey can be reached at jessrlaskey@gmail.com. Follow us on Facebook, Twitter and Instagram: @insidesacramento.
