The Journey of Beautiful Destinations — Richard E. Poulin III

It took years of persuading our daughter, Rylae-Ann, to hop into the curved seat of the playground swing on her own and enjoy the freedom and weightlessness of swinging. When she turned 5 in April, we filmed and…

As a child, I hated expecting the same old routine. The best days were when something unexpected happened. Excitement and thrill induced wonderful feelings and were seared into my memory. Those are still the standout moments for me when…

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…

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…

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…

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…

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…

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…

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…

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,…

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…