When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, the first thing the internet told us was devastating: She would die. At that moment, my wife, Judy, and I had two choices: We could accept those words as truth, or we could fight…
As a husband and father of a child with a rare disease, I’ve seen firsthand how being a caregiver can test a marriage. Our daughter, Rylae-Ann, has aromatic l-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder that affects neurotransmitter production, causing hypotonia, developmental delays, and ongoing medical…
Starting something new is never easy for a child with aromatic l-amino acid decarboxylase (AADC) deficiency, especially when it involves doctors, clinics, and the unknown. Two weeks ago, we had a false start at a new physical therapy clinic. Anxiety got the best of…
As parents, Judy and I have learned that change can mean very different things to different children. For many, change brings excitement, curiosity, and growth. For our daughter, Rylae-Ann, change once meant fear, uncertainty, and overwhelming anxiety because of her rare neurotransmitter disease, aromatic l-amino acid decarboxylase…
I’ve never been someone who spends time looking back to psychoanalyze my past or delve deeply into philosophy. Instead, I’m typically looking forward, planning, and moving ahead. However, two significant events that unfolded in a matter of a few days recently forced me into deep reflection. They reminded me of…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I felt utterly lost. The diagnosis was ultrarare, the prognosis uncertain, and the treatments limited. There was no road map or guide for this new journey we never imagined we…
When you’re the parent of a child with a rare disease like aromatic l-amino acid decarboxylase (AADC) deficiency, you quickly learn that progress doesn’t come in straight lines. It zigzags, loops, and sometimes takes detours through unexpected places. For our daughter, Rylae-Ann, one of…
For our family, July felt like running a marathon while juggling. The month involved a constant mix of motion, focus, and unpredictability. Each day brought challenges, milestones, and surprises. As parents of a child with the rare disease aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy,…
Rylae-Ann, my daughter, was born with aromatic l-amino acid decarboxylase (AADC) deficiency, an ultra-rare neurotransmitter disorder that disrupts the production of dopamine and serotonin. Before she received life-changing gene therapy at 18 months old, even basic developmental milestones felt like mountains. Since gene therapy, she’s made amazing…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I stepped into a world few people know about. This rare genetic condition affects the brain’s ability to produce essential neurotransmitters, leaving children with severe motor, developmental, and autonomic challenges.
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