My wife, Judy, and I have learned that raising our daughter, Rylae-Ann, rarely involves following a straight path. Rylae-Ann was born with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare neurotransmitter disorder that once prevented her from holding up her head, sitting independently, or speaking. After receiving…
Columns
In November 2019, my wife, Judy, carried our 18-month-old daughter into National Taiwan University Hospital for an experimental gene therapy. Rylae-Ann couldn’t hold up her head, sit independently, speak, or control her movements. She experienced dystonia and oculogyric crises in which her eyes rolled upward and became…
Our daughter’s journey has never been a straight path, and if there is one thing my wife, Judy, and I have learned, it is to always have a full tank of adaptability and perseverance. Rylae-Ann was born with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare neurological…
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…
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,…
Recent Posts
- Taking a step back, so our child with AADC deficiency can move forward
- The long road between a promising idea and a child who needs it
- Gene therapy shows benefits despite limited brain coverage
- Breathing easier after my daughter’s successful first week at school
- We wrote ‘Reawaken’ so no rare disease family has to feel alone