Even when we couldn’t see it, our daughter was making progress

When our daughter, Rylae-Ann, was just 3 months old, the first signs of aromatic l-amino acid decarboxylase (AADC) deficiency began to emerge. At the time, we were consumed by only one thought: progress.

As the months went by, the absence of progress became painfully clear. The gap between what we hoped for and what was happening widened with each passing day. Still, the only thing my wife, Judy, and I could focus on was finding a way forward.

We dangled colorful toys above Rylae-Ann, but she never reached out. We squeezed musical toys in front of her, but she never reacted. We covered her in kisses, but she never kissed us back. It was heartbreaking.

Yet, despite the silence, despite the stillness, we refused to give up.

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Visible progress

After gene therapy, Rylae-Ann could do belly time for the first time while interacting with a book. (Photo by Richard E. Poulin III)

When Rylae-Ann was 18 months old, she was given a chance to receive gene therapy through a clinical trial. We were uncertain, but hopeful.

And then, it happened.

We saw progress within the first month. First, she sat up. Then, she learned to sit without support. Soon, she was crawling.

One of the most profound moments came when she began to move her arms independently. She would tap pictures that corresponded to the words I read aloud — proof that all those early efforts, the stories, the songs, and the love we poured into her mattered. Even when progress seemed invisible, it had been happening beneath the surface.

Eventually, Rylae-Ann was walking independently. Walking as a family, holding hands, was a dream come true — one that became even sweeter when she told us “I love you” for the first time. Each movement and word, no matter how small, was a victory.

But our journey didn’t stop there.

Progress through observations

Today, the progress we seek is different. It is quieter and more nuanced. Judy works with Rylae-Ann daily, helping her build social skills and expand her vocabulary. We see how she longs to fit in and do what her classmates do. And with slight modifications, she finds her way. She may take a little longer, and her movements may not always be as smooth, but she joins in — and that’s what matters.

Rylae-Ann’s mom, Judy, snaps a quick picture after watching her daughter play hide-and-seek with friends. (Courtesy of Richard E. Poulin III)

Then came a moment that left us in awe.

Judy, who teaches at the same school Rylae-Ann attends, happened to have a break at the same time as recess. From the corner of her eye, she spotted Rylae-Ann standing with her face buried in her hands. Concerned, Judy started toward her.

But before she could reach her, Rylae-Ann’s face popped up, and she shouted, “Ready or not, here I come!” It was something so simple yet so extraordinary. She had played tag before and dabbled in hide-and-seek, but understanding the rules and actively leading the game were brand-new.

The moment and picture were shared almost instantly in our family group chat.

We are so proud of our daughter. In the beginning, nothing seemed to be happening, but that didn’t mean progress wasn’t taking place. Then, we began witnessing progress with Rylae-Ann’s first movements and words. Now, it’s woven into the fabric of our everyday life, seen in the smallest yet most meaningful moments.

And through it all, one thing remains the same: We celebrate every step forward.

Note: AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of AADC News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to aromatic l-amino acid decarboxylase deficiency.