Whitney’s Story
Whitney, summer 2025
From Whitney’s mom…
Whitney is a bright light in every sense of the word. With a contagious laugh, fierce sass, and an unstoppable spirit, she brings joy, laughter, and resilience into the lives of everyone she meets. Even as she faces the immense challenges of TUBB4A-related leukodystrophy, she shines with a light that refuses to dim.
In January 2023, when Whitney was just four years old, our world changed with a diagnosis we never saw coming. We had been searching for answers for nearly a year—relatively quick in the world of rare diseases, but it felt like an eternity to us. The diagnosis came in the most impersonal and terrifying way: a MyChart notification. No doctor. No explanation. Just unfamiliar medical terms and gene names.
Like so many desperate families, we turned to Google. And like so many others, we were immediately consumed by fear. The results painted a grim picture, and our hearts broke under the weight of what we thought the future might hold.
Thankfully, we were soon able to speak with a doctor who offered something we desperately needed: hope. That conversation was a turning point. It reminded us that we were not powerless—that there was a community, and even a purpose, in this journey.
Besties! Whitney and Tilyn
TUBB4A-related leukodystrophy brings many challenges to Whitney’s daily life. But despite it all, Whitney pushes forward with a determination that is nothing short of extraordinary.
As a mom, I had already walked a difficult path with Whitney’s older sister, who was born with a cleft lip and palate. Through her surgeries and healing, I leaned heavily on Facebook groups where parents shared wisdom, experience, and encouragement. So when Whitney was diagnosed, I knew where to turn. I searched for support groups for families facing TUBB4A-related leukodystrophy and came across the Foundation to Fight H-ABC. That’s where I connected with Michele, who told me about CHOP (Children’s Hospital of Philadelphia) and encouraged me to reach out.
Three months later, we had our appointment, and that visit changed everything. At CHOP, we met with a team who gave us more than information. They gave us renewed strength. We learned that we are closer than ever to real treatments—and that there is tangible hope on the horizon.
Living with this diagnosis means carrying a heavy weight every day...
But instead of being consumed by fear, we’ve chosen to fight. To search for answers. To believe in progress. And above all, to never lose sight of the light Whitney brings into this world.
Whitney is not defined by her diagnosis. She is bold, hilarious, affectionate, and wise beyond her years. Her spark keeps us going. Her strength fuels our own. And every single day, we fight for a future where her light can shine even brighter, without the shadow of TUBB4A.