Even before our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, began taking meticulous notes. We were not writing a book. We were just trying to understand what was happening to our family. AADC deficiency is an ultra-rare genetic disorder that…
The Journey of Beautiful Destinations – a Column by Richard E. Poulin III
Our daughter, Rylae-Ann, was born with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder that affects the brain’s ability to produce dopamine and serotonin. Before receiving gene therapy in Taiwan in 2019, she couldn’t sit independently, crawl, walk, or speak. Today, she runs, attends school, argues with…
Before our daughter, Rylae-Ann, received gene therapy when she was just 18 months old, she needed her first haircut to make space for the surgery. Most parents might mark this milestone with a special trip to a children’s salon, a tiny envelope for the first curl, and several dozen photographs.
Summer sometimes has a way of sneaking up on us. One day, we’re all talking about school ending, vacations, swimming pools, and ice cream. The next, it seems, we step outside and it feels like someone opened an oven door in our faces. For most families, summer means sunscreen, water…
My wife, Judy, and I recently traveled back to Taiwan so that our daughter could continue contributing data to her gene therapy clinical trial, and we got to catch up with many of the doctors who have been part of her journey. We also met several families whose children recently…
Six and a half years ago, my wife, Judy, and I placed our trust in a medical team in Taiwan and handed our daughter, Rylae-Ann, over for a surgery we hoped would change her future. Today, we continue returning to Taiwan, not because Rylae-Ann needs another operation, but because she…
One of the greatest lessons my wife, Judy, and I have learned through raising our daughter, Rylae-Ann, is that there is a big difference between helping a child succeed and teaching a child to be helpless. Our daughter was born with aromatic l-amino acid decarboxylase (AADC) deficiency,…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency at just 8 months old, the future felt uncertain. AADC deficiency is a rare genetic disorder that affects the body’s ability to produce important neurotransmitters such as dopamine and serotonin. The result can be…
People often tell me they cannot believe everything my wife, Judy, and I have managed to juggle over the years. They ask how we keep up with the appointments, therapies, advocacy work, and daily responsibilities. The funny thing is that most days we do not even notice it anymore. Life…
When our daughter, Rylae-Ann, first walked into a classroom at a private international school in Thailand, it felt like a moment we once thought might never come. Rylae-Ann was born with aromatic l-amino acid decarboxylase (AADC) deficiency. This rare genetic disorder affects the body’s ability to produce…
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