12/12/2025
Hello everyone and welcome to our page! I wanted to share D'Angelo's story and how he inspired us to create the TUBA1A Foundation.
D’Angelo was born on February 7, 2019, and his life has been shaped by resilience, love, and the pursuit of understanding. What started as a routine pregnancy quickly became complicated when ultrasounds revealed that his head was measuring smaller than expected. Suddenly, we found ourselves navigating the unfamiliar territory of high-risk pregnancies, consulting with medical specialists, and facing heartbreaking predictions. In the midst of uncertainty and limited information, we chose hope over fear.
Despite dire forecasts, D’Angelo’s arrival was marked by strength. He breathed and ate on his own, greeting the world with a sweetness that continues to define him today. As time passed, however, new challenges emerged. Multiple evaluations, MRIs, and missed milestones led to genetic testing, which finally provided answers. D’Angelo was diagnosed with TUBA1A, a rare genetic condition affecting brain development.
Receiving the TUBA1A diagnosis was just the beginning. We quickly realized that families like ours had few places to turn for clear information, practical guidance, or emotional support. Most available resources were complex scientific papers, leaving us with more questions than answers. The sense of isolation and overwhelm we experienced is common among TUBA1A families, highlighting a significant gap in support and resources.
Despite the uncertainty, D’Angelo continued to move forward. At 19 months, he experienced his first tonic-clonic seizure, a pivotal moment that revealed another common aspect of TUBA1A, seizures. He was rushed to the emergency room for rescue medication during a frightening cluster of seizures. Since then, he has been on anti-seizure medication, which has helped control his seizures.
Over time, D’Angelo received several additional diagnoses that are frequently seen in children with TUBA1A, including: Cerebral Palsy, Epilepsy, Scoliosis & Hip Dysplasia, Cortical Vision Impairment / Optic Nerve Hypoplacia and Intellectual & Language Disorders.
Importantly, none of these diagnoses define who D’Angelo is. His identity is shaped by much more than medical labels.
Now nearly seven years old, D’Angelo continues to make meaningful progress. He eats nearly all foods by mouth with assistance. He practices walking and takes supported steps. He can sit independently for up to 30 minutes. He uses an AAC device to communicate, enjoying the process of creating his own words and sounds. He brings joy, laughter, and connection to everyone he encounters.
His story is not solely about overcoming challenges, it is also about the possibilities that arise through early support, community involvement, and mutual understanding.
TUBA1A is a rare genetic condition with limited research, few specialized medical providers, and very limited resources for affected families. Parents often learn of the diagnosis alone, filled with confusion and fear—just as we did. Many receive discouraging predictions about their child’s future before their baby is even born.
Awareness is the key to change. It fosters greater understanding, improved resources, earlier interventions, and ultimately, better outcomes for children like D’Angelo.
Inspired by our journey, we established the TUBA1A Foundation in 2025 to:
• Provide families with clear and accessible information
• Connect parents and caregivers to supportive communities
• Increase awareness among medical providers
• Support research for deeper understanding, better treatments, and improved quality of life
• Ensure that no family faces this diagnosis alone
D’Angelo’s smile, laughter, and resilience are daily reminders of the importance of this mission. His life brings joy and hope to everyone he meets, and with greater awareness, countless other families can experience the same support and empowerment.
While the future remains uncertain, raising awareness today has the power to change outcomes for every child born with TUBA1A tomorrow.
