Parenting is already a full-time job, but the list of tasks mounts for parents of children with health challenges. After work during the week and on weekends, my wife and I operate as a team to coordinate our 5-year-old daughter Rylae-Ann’s care and therapy sessions, as she…
Before my daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, I had no idea about the size and scope of the rare disease community. When I entered this new world, information and resources were difficult to find. But the power of celebrities and other public…
When our daughter, Rylae-Ann, was 18 months old, my wife, Judy, and I learned she had a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. As of 2020, only about 135 cases of AADC deficiency had been described worldwide. Thankfully, though, a vast network…
My wife, Judy, and I had stayed up late for meetings and written papers advocating for the approval of Upstaza (eladocagene exuparvovec), so we celebrated when the news was finally made public. In November, the gene therapy formerly known as PTC-AADC was approved in the U.K. to treat…
Some may think it’s all right or even supportive to temporarily take a group of struggling students out of the classroom for focused intervention. In all of the schools where I’ve worked, students were pulled out of their general education environment and sent to a room with…
Two parents, unbeknownst to them, were carriers of a rare disease. They were shocked to learn about this genetic fluke after their child was born. From that moment on, life changed for the family, but together, they were able to create a meaningful journey. Sound familiar?…
As a baby, our daughter, Rylae-Ann, had very poor muscle tone. It was barely enough to sustain her body. When she began missing her milestones, the importance of movement became apparent to my wife, Judy, and me. Rylae-Ann was born with the rare disease aromatic l-amino acid…
When my daughter, Rylae-Ann, was born, my wife, Judy, and I celebrated as all new parents do. We took photos and showed her off to family and friends. The excitement focused our attention on what was right. Years later, we realized noticeable symptoms were present after we learned she…
This Rare Disease Day, I spent time reflecting on the future of our community. Will all the hashtags and sharing of our stories on social media translate into results, or is all of this in vain? The answer I’ve settled on is that it matters a lot. In December…
Our daughter, Rylae-Ann, went through a diagnostic journey for eight months until we finally discovered, by chance, what she had. Even after learning she had the rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency, very little support was available to us. And yet our…
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