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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…

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 was also because we chose to shut ourselves off from the world. Recently, my wife, Judy,…

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 many nervous children and parents who were there out of medical necessity. I began to reflect…

Last October, news began to circulate that Taiwan was reopening for tourism after lifting pandemic restrictions. Usually my family would celebrate an opportunity to travel; instead, this news meant continuing our obligation to contribute data to medical research. On Nov. 13, 2019, our daughter, Rylae-Ann, underwent experimental gene therapy…

While the term rare disease refers to an uncommon disorder, more than 7,000 rare diseases affect an estimated 30 million people in the United States alone. That means almost one in 10 Americans are living with a rare disease. Together, rare diseases aren’t so rare after…

Before all the New Year’s resolution posts begin to be smeared across the internet, inducing feelings of guilt and shame, I want to preempt all that with a personal problem and solution. First, you’re amazing! Parents and caregivers of children with challenges often have double the work…