Columns

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…

As soon as the car pulls up to the hospital, crying and ear-piercing screaming commence. My daughter arches her back and squeezes her eyes shut. It’s impossible to console her. We must resort to holding her down and forcing her to submit, which doesn’t help us with future visits. Until…

During a workshop for rare disease caregivers, a fellow parent reminded me that while therapy and activities are great topics for discussion, we can’t forget the struggle of simply coping with life and completing routine tasks. Her comment caused me to pause and reflect. It was so true. When I…

Our daughter, Rylae-Ann, has a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. Caring for a rare disease child is multifaceted. It includes specific attention to diet, therapy, and education, and requires a support network. My wife, Judy, and I…