My reflections on a journey through grief and hope
While we've made it to a rebirth stage, earlier phases were filled with pain
As families across Thailand gathered to ring in the Thai New Year during Songkran with water buckets, laughter, and good wishes, our family returned to the celebrations with friends for a day, but then went on a short family getaway.
It was more about reflection than celebration. As the sounds of water play filled the air around the resort where we were staying, we were reminded of the many transitions life brings, some refreshing and playful, others more profound and painful.
One unexpected conversation during our trip brought back a rush of memories. Judy, my wife, had connected with a young couple in China whose baby was recently diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency. As they cautiously shared their fears and questions, I saw our past selves in their eyes. It reminded us of the emotional roller coaster we rode years ago when our daughter, Rylae-Ann, was diagnosed with AADC deficiency.
Although our daughter received gene therapy and is now thriving in ways we once only dreamed of, the memory of that early journey is etched in our hearts. It’s easier to look back now, but the road to treatment was filled with stages that felt like emotional survival.
Using the DABDA model, with its stages of denial, anger, bargaining, depression, and acceptance, we can make sense of what we felt then and what many families continue to feel now.
The stages of our rare disease experience
Denial: When we first heard about AADC deficiency, I knew Rylae-Ann had it, based on the research I’d done. Judy, on the other hand, clung to the hope that the diagnosis might be incorrect. Perhaps the test results were misinterpreted. Rylae-Ann was so tiny, so delicate. How could such a rare disease be real?
Denial was a protective shield. We Googled potential cures, but kept reaching the same result regardless of the link we clicked. No cure was available. We held back from telling anyone.
But denial delays action, and AADC deficiency doesn’t wait. It took time to accept that we needed to move forward and help her in any way possible.
Anger: Once reality hit, anger came. We were angry at the doctors for not finding it earlier. Angry at ourselves for not noticing sooner. Angry at the randomness of genetics. We questioned how something so rare and cruel could strike our child. There were days we were enraged because everything felt unfair. Why her? Why us?
This stage was filled with rage masked as frustration. It wasn’t always directed at anyone in particular. Sometimes it was just silence, heavy sighs, or nights we couldn’t sleep.
Bargaining: We began to bargain not just with doctors, but with fate. We replayed every decision we’d made during pregnancy and infancy. We explored every experimental therapy, every alternative medicine. We whispered promises to the universe, saying, “We’ll do anything, just save her.”
It was a time of late-night research and desperate hope. It brought us closer to understanding treatment options, but emotionally, it was exhausting because we were still trying to rewrite the past.
Depression: At our lowest, we felt paralyzed. Watching our daughter struggle to lift her head or eat without help was heartbreaking. Other children her age were crawling, babbling, and laughing. We felt isolated in a world that didn’t understand rare disease parenting. There were tears behind closed doors and moments when the future felt unbearably uncertain.
In this phase, we withdrew from the world. It was a quiet grief — not of losing someone, but of losing the life we imagined for our child.
Acceptance: This step didn’t come in a single moment. It came gradually, with knowledge, community, and action. We accepted that our daughter had AADC deficiency, and with that acceptance came empowerment. We connected with other families, worked with specialists, and made plans based on hope.
This stage helped us move forward and pursue gene therapy with clarity, even though the unknowns still scared us.
Rebirth: After gene therapy, we entered a stage that doesn’t exist in the traditional DABDA model. It’s a stage many in our AADC deficiency community call rebirth. Watching Rylae-Ann smile, walk, and laugh was nothing short of miraculous. It was a rebirth for her and our family. We could dream again. We could make school plans, play in the park, and take family vacations like this one during Songkran without fear lurking behind every corner.
We know that gene therapy is not the end of the story. There’s still work to do, milestones to achieve, and new challenges to overcome. But we now live with joy. Every time we meet another family just starting their journey, we hope our story can be the light in the darkness.
To the family we met during Songkran, and to every parent walking through the stages, you are not alone. The road is long, but the destination is worth it. From denial to rebirth, every step is a crucial part of the healing process.
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.
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