Parenting a child with a rare disease often means celebrating daily triumphs and overcoming unexpected hurdles. For my wife, Judy, and me, our daughter Rylae-Ann’s journey with aromatic l-amino acid decarboxylase (AADC) deficiency has taught us that even simple milestones can bring surprises. Recently, Rylae-Ann began…
As parents of a child with aromatic l-amino acid decarboxylase (AADC) deficiency, travel has always required strategic planning and careful accommodations. From the earliest days of our daughter Rylae-Ann’s diagnosis at just 8 months old, my wife, Judy, and I learned to navigate the world differently. Every…
It was bound to happen. After six years of dodging it, our daughter, Rylae-Ann, finally caught COVID-19. For my wife, Judy, and me, this triggered a rush of emotions, including fear, worry, and, ultimately, gratitude. Rylae-Ann isn’t like most kids. At just 8 months old, she was diagnosed with…
I’ve always struggled to find the right words for what I’m about to describe. Maybe it’s because it feels too vulnerable, or maybe I haven’t fully unpacked the emotions. But as another school year comes to a close, with all the celebration, the final curtain calls, and the proud goals…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I were overwhelmed and unsure where to begin. Initially, our primary concern was survival. After she received gene therapy at 8 months old, we could finally ask the next big question: How…
My daughter, Rylae-Ann, is a beautiful, bright little girl with a rare genetic condition called aromatic l-amino acid decarboxylase (AADC) deficiency. If you’ve never heard of it, you’re not alone. Most doctors haven’t, either. It’s a condition that affects the production of the neurotransmitters…
During a recent visit from another parent whose child has aromatic L-amino acid decarboxylase (AADC) deficiency, a small comment made my wife, Judy, and I pause. “Your house looks like a kid’s gym!” she said with a laugh. We looked around, and she was right. Soft blocks…
With just two weeks left in the school year, my wife, Judy, and I find ourselves reflecting deeply on how far our daughter, Rylae-Ann, has come. It feels like just yesterday we were coaxing her through tearful goodbyes at the classroom door, navigating the daily challenge of separation anxiety and…
As the summer sun shines brightly, it presents an excellent opportunity for families to make plans that can significantly affect the social development of children with aromatic l-amino acid decarboxylase (AADC) deficiency and other rare diseases. For parents like Judy and me, the summer months aren’t just about relaxation.
For parents of children with rare diseases, progress is rarely linear. Each milestone is hard-earned, often built upon months or even years of trial, error, and perseverance. Our daughter, Rylae-Ann, was born with aromatic l-amino acid decarboxylase (AADC) deficiency. This rare genetic disease affects neurotransmitter production, resulting…
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