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. Receiving the diagnosis was just the beginning.
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 Hypoplasia 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 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 is working on sitting independently and he can roll to his toys. He uses an AAC device to communicate, enjoying the process of creating his own words and sounds and chatting about his friends from school. He loves to laugh and be silly, he enjoys time with his sister and watching planes in the sky. D’Angelo brings joy, laughter, and connection to everyone he encounters. He is a true blessing to our family and we are grateful for him!
My daughter, Livvy, was born in April 2023. Her story began with what appeared to be a normal pregnancy, aside from ventriculomegaly noted at our 20-week scan. We were told by the medical team that it was an isolated finding and that, in most cases, babies are born healthy. Unfortunately, that was not our reality.
After a fairly easy pregnancy and a very quick ten-minute delivery, followed by normal scans at birth, we were sent home believing we had a healthy baby. Livvy was a little angel—she slept and ate well and rarely cried. However, she was slow to open her eyes after we brought her home. When she did begin opening them, I noticed episodes of unusual eye movements. As a mom, something didn’t feel quite right, but we were reassured by her pediatrician that this was normal development.
One day, those episodes intensified into back-to-back events, and we rushed to the emergency room. These episodes were actually seizures. Even then, specialists believed they would most likely resolve on their own and that she would grow out of them.
When imaging and test results came back, everything changed. We received the diagnosis of TUBA1A—a rare genetic condition we had never heard of. We were told Livvy might never talk, walk, or even sit. Our world was turned upside down. Being told her condition was considered “one in a million” left us in shock and disbelief. The medical literature referenced so few cases that we had nothing reliable to help us understand what this diagnosis truly meant for Livvy’s future.
Fast forward to today—Livvy is almost three years old. A week in her life is filled with early intervention therapies to support her multiple diagnoses and global developmental delays. Her progress is slow but steady. She is on seizure medication and has a feeding tube due to aspiration risks.
Despite all she has endured, Livvy is a happy little girl, full of smiles and bringing peace and joy to those around her. Her cries are short-lived, she has a mellow temperament, and her spirit is undeniable. While her future remains uncertain, her presence is deeply meaningful.
Hello everyone! We wanted you to meet Peter!
Peter was born in January of 2021 with severe brain defects including complete agenesis of the Corpus Callosum and Ponto Cerebellar Hypoplasia. He was not expected to live long and was on home hospice care for the first four months of his life. The brain defects have lead to many conditions. To name a few: cerebral palsy, global delays, need for feeding tube, sleep apnea, aspiration, and so on. Despite all his complexities, he has reached many milestones that are far beyond what anyone could have predicted.
He is now 5 years old. He can army crawl, roll and sit up on his own. He has a few signs and communicates with them along with using sounds, faces and gestures. He is the most social and happy boy we know! Some of his favorite things are: maracas, chewing on brims of hats, being in the shower, being funny, being outside, giving kisses, meeting new people, riding down small ramps in his wheelchair (at the skatepark), cuddling, his puppy Ollie, and playing with his siblings. He is the reason our family has learned things we never expected to learn. He is the reason ordinary moments feel sacred. He is the reason our definition of success has changed.
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