The Journey of Beautiful Destinations — Richard E. Poulin III

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,…

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…

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…

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,…

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…

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…

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…

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…

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…

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,…

When our family’s rare disease journey began four years ago, we felt alone. Part of the reason was that there wasn’t much information available about our daughter’s condition. But, candidly, it…

On Christmas Eve, I lay with my daughter, Rylae-Ann, in the hospital as she underwent testing as part of a clinical trial. While it was our decision to be there, the quiet floor housed…