Turning a rare diagnosis into a mission

When Anthony and Rachel Castellano learned their daughter Emilia had FOXP1 syndrome, a rare genetic disorder, they entered a world they knew very little about. But in some ways, receiving the diagnosis was a relief.

“We knew something was going on with Emilia, but we didn’t know what it was,” Anthony said. “Having a diagnosis gave us a starting point and something we could learn about and work with. Of course, there were a lot of emotions. It would have been easy to sit back and cry in the corner and ask, ‘Why us?’ But we decided pretty quickly that we needed to focus on Emilia and figure out how we could get her as much help and support as possible.”

Since then, that mindset has carried the Castellano family through everything. Emilia was 2 years old, turning 3 that August, when Anthony and Rachel received her FOXP1 syndrome diagnosis in May 2023. FOXP1 is a specific gene in our DNA that acts somewhat like an instruction manual, helping the brain and body develop properly, particularly in areas involving speech, learning and behavior. When there is a change or mutation in the FOXP1 gene it can lead to a rare genetic condition called FOXP1 syndrome, which is present from birth and can affect development in many ways.

Every person with FOXP1 is different, but common characteristics can include speech and language delays, developmental delays, learning challenges, autism-related characteristics, sensory differences, low muscle tone, feeding challenges and other medical or physical differences. There is currently no cure for genetic change itself, so treatment focuses on supportive therapies and services such as speech, occupational and physical therapy, ABA, feeding therapy and educational support. The most recent numbers that Anthony and Rachel have seen indicate there are just over 1,000 confirmed diagnoses worldwide. However, genetic testing is not always easily accessible, so Anthony believes there are likely many people who remain undiagnosed or misdiagnosed.

Emilia is now 5 years old. Every milestone of hers is a celebration in the Castellano house. Anthony and Rachel were once told that Emilia might never speak but today, she’s running around, learning, communicating and even spelling her name. When she says a new word, tries a new food, learns a new skill or accomplishes something that may seem small to someone else, Anthony and Rachel couldn’t be prouder. Progress is progress, Anthony said.

Instead of allowing the diagnosis to define their daughter, the Castellano family turned their experience into a mission: raising awareness, supporting research and helping other families navigate the rare disease journey. For Anthony and Rachel, learning about FOXP1 has been challenging because it is so rare and there is still relatively little information available. They have been fortunate to connect with organizations such as the FOXP1 Medical Research Foundation, the FOXP1 Impact Foundation and the International FOXP1 Foundation, and ongoing research gives them hope.

“Some of our biggest challenges have been navigating the medical insurance system and the public school system,” Anthony said. “Our biggest challenges have been with the school system. I always believed that schools would naturally do whatever was best for a child, but our experience has taught us that parents sometimes have to be extremely persistent.”

Emilia also has an autism diagnosis and some autism characteristics. That diagnosis was important because it helped Anthony and Rachel access therapies such as ABA (Applied Behavior Analysis), which has helped her tremendously.

“As Emilia was preparing to transition from pre-K to kindergarten, the school did not believe she needed ABA services,” Anthony said. “We also wanted to explore specialized school placements, and my wife told me that the school was not allowing us to tour out-of-district programs. My initial reaction was, ‘How does that make sense?’ If we’re talking about finding the right educational environment for our daughter, shouldn’t we be able to learn about all of the options? I became much more involved, continued asking questions and eventually obtained tours of several programs. Some were not appropriate for Emilia, but some were. That’s exactly why we wanted to explore them.”

Anthony and Rachel ultimately had to escalate their concerns to mediation, which resulted in the school district involving its attorney and them needing to hire an attorney as well. Anthony and Rachel have spent tens of thousands of dollars navigating this process, and the advocacy continues. Anthony does not believe that these challenges are unique to his family.

“I think a lot of it comes down to resources, communication and making sure parents and schools are truly working together,” he said. “That experience is also what pushed me into advocacy. I started using social media across Facebook, Instagram, TikTok, X and LinkedIn to share Emilia’s story, raise awareness about FOXP1 and advocate for children with special needs more broadly.”

Since becoming advocates, Anthony and his family have worked to bring greater visibility to FOXP1 syndrome through community outreach and fundraising efforts, including creating FOXP1 awareness bracelets that have been shared with families across multiple states and internationally; organizing a FOXP1 awareness shirt fundraiser supporting research efforts; raising donations for FOXP1 research organizations, including the FOXP1 Medical Research Foundation and the International FOXP1 Foundation; sharing Emilia’s story through social media to educate others about rare genetic disorders; and connecting with other FOXP1 families around the world to build a stronger community. As part of their ongoing awareness efforts, the Castellano family is also preparing a “Cruising to Raise Awareness for FOXP1 Syndrome” campaign, using their family cruises as an opportunity to spread awareness and start conversations about FOXP1 wherever they travel.

“For us, it’s another way of taking something our family enjoys and turning it into an opportunity to educate people about a rare condition that most people have never heard of,” Anthony said.

The biggest message that Anthony can give to families who are going through something similar is that they are not alone. Take it one day at a time, he emphasized. Celebrate small victories. Don’t be afraid to ask questions, speak up, advocate for your child and don’t be afraid to keep pushing when something doesn’t feel right.

“We love sharing our experiences with other families and hearing their stories,” Anthony said. “We learn from each other about IEPs (Individualized Education Program), insurance, medications, providers, therapies, fundraising and even just finding ways to have fun. The more families who speak up, the more awareness we create, and the more likely we are to see change. For us, our journey has turned into something bigger than just our own family. We want to help other families find their voice, raise awareness for FOXP1 and ultimately help fund the research that could one day change the lives of children like Emilia.”

Emilia is smart, social, teachable, funny and incredibly determined. Her big sister Giuliana is also an amazing advocate for her. Sometimes kids will ask questions, and Giuliana will simply tell them, ‘She doesn’t talk much. She has FOXP1,’ and then they go right back to playing. That’s what Anthony and Rachel want for Emilia. They want people to see the child first, not the diagnosis.

For anyone who would like to learn more about FOXP1, information is available at www.foxp1research.org, www.foxp1impact.org or www.foxp1.org.