Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that disrupts the production of neurotransmitters, including dopamine and serotonin. That leads to severe developmental delays, weak muscle tone, and other complex challenges that are hard to imagine unless you’ve lived through them. For families like…
As my wife, Judy, and I drove through the streets of Taipei on a recent trip to celebrate the journey of the gene therapy Upstaza (eladocagene exuparvovec) in Taiwan, we passed an apartment building I hadn’t thought about in years. A flood of memories came rushing back.
In December 2018, my wife, Judy, and I embarked on a journey from Singapore to Taiwan, driven by nothing more than a hunch that our daughter, Rylae-Ann, might have a rare disease. At that point, she was only a baby, showing signs of struggle that no one could explain. It…
When we discovered our daughter, Rylae-Ann, was born with the rare disease aromatic l-amino acid decarboxylase (AADC) deficiency, our lives underwent a complete transformation. Every decision we made, from the smallest daily task to the larger choices about her care, was centered around helping her progress. We…
Mornings in our house are always a bit like a relay race — with the occasional baton drop. Last week, as my wife, Judy, and I were preparing for our day as educators — the final leg of this “parental marathon” being getting our daughter, Rylae-Ann, ready…
My wife, Judy, and I have spent our careers teaching at bilingual schools, where the curriculum is delivered in at least two languages and all students are expected to learn in both of them. We’ve always believed in the cognitive benefits of bilingualism, such as enhanced problem-solving, creativity, and improved…
Our daughter, Rylae-Ann, has journeyed from fighting for her life to living out a childhood dream. While she still faces some challenges, they pale in comparison to the battles she once fought. Nearly five years have passed since she received gene therapy to treat her rare neurotransmitter…
Social media is an extraordinary tool, especially for families affected by rare diseases who are scattered across the globe. Without it, many of us would never have found each other. These online connections have prompted me to reflect on our family’s journey and consider how our experiences might offer valuable…
Our daughter, Rylae-Ann, lost her first tooth not too long ago, and boy was it an event. She’d been wiggling that thing for days, proudly announcing to anyone who would listen that her tooth was loose. While she was initially worried about it, we quickly reassured her that it was…
As the summer days grew shorter and the start of first grade loomed closer, we found ourselves reflecting on the journey that had brought us to this moment. My wife, Judy, and I remembered the days before our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency,…
Get regular updates to your inbox.