When Christopher and Rachel Lazzara welcomed their third daughter, Isabella “Isa” Elaine, on Jan. 21, 2023, they were overjoyed to celebrate another healthy baby girl. The youngest of three daughters, Isa was adored from the very beginning.
As the months passed, the Lazzaras began noticing subtle differences in Isa’s physical and cognitive development and she began to experience seizures. After months of appointments, testing and uncertainty, they received the news no parent wants to hear.
Isa was diagnosed with Beta-propeller Protein-Associated Neurodegeneration, or BPAN, an ultra-rare genetic disorder caused by a spontaneous mutation in the WDR45 gene. BPAN belongs to a family of disorders known as Neurodegeneration with Brain Iron Accumulation, or NBIA, which are characterized by progressive damage to the nervous system.
“As a parent, you never expect to hear that your child has a rare neurodegenerative disease,” Christopher said.
Like many families facing a rare disease, they soon discovered that finding specialized care close to home was incredibly difficult.
As they searched for options, they also learned something unexpected. Her case presents a rare opportunity to explore connections between BPAN and more common neurodegenerative diseases, including Alzheimer’s and Parkinson’s disease. Because Isa was diagnosed so early in life, physicians were able to collect an extensive set of clinical data that may help researchers better understand how BPAN progresses over time.
The discovery transformed heartbreak into purpose. Learning that research into rare disorders like BPAN could lead to broader advances in neuroscience inspired them to ask a powerful question: How could their family’s journey help others?
That question led the Lazzaras to establish the Isa Elaine Foundation, dedicated to advancing research and improving care for individuals living with BPAN and related disorders.
The foundation’s collaboration with the University of Florida’s Norman Fixel Institute for Neurological Diseases helped create the Isa Elaine Foundation Care Program for Iron Deposition Diseases. The multidisciplinary program provides coordinated, lifelong care for children and adults living with NBIA throughout Florida and the Southeast.
By bringing specialists together in one place while advancing research into rare neurodegenerative disorders, the family is helping build a future where patients receive coordinated, expert care and families can spend more time focused on what matters most: being together.
“Supporting UF Health became a deeply personal mission for us because no parent should have to travel across the country to get world-class care for their child,” he said. “Our goal in giving is to expand this care, making it broader, more accessible and readily available for every family walking this path after us.”
For the Lazzaras, supporting the clinic is also about creating hope.
“When we first received Isa’s diagnosis, we felt utterly isolated. Facing an exceptionally rare condition with no specialized treatment options within a thousand miles of our home left us feeling disconnected when seeking care,” he said. “UF Health changes that reality. It gives hundreds of families who felt just as lost as we did, a true medical home and a sense of belonging.”
Today, Isa’s seizures are under control, and the family can focus on moving forward with developmental milestones. They work closely with her physical therapist and use a gait trainer to help her build strength and balance.
“Progress is gradual, but every little step gives us hope that she’ll walk on her own one day,” Rachel said.
Equally important is giving Isa a voice. Through speech therapy they are assessing alternative ways for her to express her needs and connect with the world around her.
“Being her parents is the greatest honor of our lives,” she said. “What makes us the proudest is her unbelievable spirit. She really gives the world so much more than she takes, and she inspires all of us to find joy no matter what.”
Inspired by Isa, the Lazzaras and the Isa Elaine Foundation are helping families facing an NBIA diagnosis have access to expert care and renewed hope closer to home.
“Ultimately, it’s about lessening the suffering these kids go through and making sure every day of their lives is filled with as much comfort, dignity and quality of life as possible,” Christopher said.
Make a gift
Isa Elaine Foundation Brain Iron Disorders Care Program
Support clinical programs for pediatric and adult iron deposition diseases.