The power of community support for AADC deficiency families

When my wife, Judy, and I learned there was another family in Thailand with a child who had been diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, we were overcome with mixed emotions.

On the one hand, we were excited to know we weren’t alone on this journey and that our daughter, Rylae-Ann, who is also affected by AADC deficiency, would have a future buddy. But on the other hand, our hearts ached because we knew another family was grappling with the same fears, pain, and uncertainty that had once consumed us.

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First meeting

We first met little Akin when he was just over a year old. The moment we saw him, our hearts swelled with empathy and connection. His story was heartbreakingly familiar, mirroring those of our daughter.

Akin’s father, Alongkorn, had spent countless hours searching for answers, poring over resources until he found us. When he finally reached out, his desperation and unwavering determination to help his son spoke louder than words, transcending any language barrier. What brought us together was more than shared circumstances; it was a bond forged in shared heartbreak, resilience, and hope.

When Alongkorn arrived at our home in Bangkok, he brought his wife, Akin, and their older daughter along. Meeting another father who shared our persistence and devotion was deeply moving for me. We welcomed them with drinks and food, gathering around the table while Alongkorn’s older daughter, who is unaffected by the disease, went to play with Rylae-Ann in the playroom. Judy sat beside Alongkorn’s wife, who carefully cradled Akin in that all-too-familiar upright position that every parent of a child with AADC deficiency knows well.

We took turns sharing our stories, each detail sparking a knowing smile or a nod of understanding from the other family. Together, we laughed at the quirky moments that only we could find humor in, and we sympathized with the overwhelming challenges of parenting a child with this rare condition. It was a rare and precious sense of camaraderie that made us feel less alone.

As the conversation shifted to Akin’s future, the room grew heavy with both hope and uncertainty. A gene therapy, Kebilidi (eladocagene exuparvovec-tneq), had recently been approved in the U.S. and Europe. Akin was almost eligible. But the reality was sobering: The treatment wasn’t available in Thailand. What did that mean for Akin?

Through our nonprofit, Teach RARE, Judy and I are working to support Akin’s family by providing educational activities that double as therapy. These small victories help brighten the days as they wait for Akin’s doctors to connect with specialists in Kebilidi’s approved locations. If Akin can’t join a clinical trial in the United States or China, the alternative is daunting: His family would need to cover the high costs of traveling abroad and paying for the expensive gene therapy themselves. It’s an almost impossible feat, yet one that we, as a community, must not stop fighting for.

Akin’s journey

Akin’s diagnosis came thanks to the incredible team at Chulalongkorn Memorial Hospital and their dedication to Thailand’s rare disease community. For months, Alongkorn had watched his son suffer, searching endlessly for an explanation. While the diagnosis of AADC deficiency finally provided answers, it also brought a heavy burden: the knowledge that this rare genetic disorder is life-threatening and leaves children entirely dependent on caregivers.

But amid the despair, there is hope. A revolutionary treatment — gene therapy — has brought new possibilities. This brain-administered therapy has the power to transform lives. Our daughter, once unable to move and battling for survival, is now an independent, vibrant little girl. The treatment gave Rylae-Ann the chance to rewrite her story, and Judy and I are determined to help Akin have the same opportunity.

As parents, we know too well the anguish of watching your child struggle, of longing for a miracle. But we also know the joy and gratitude that come when hope becomes a reality. We recently organized a GoFundMe campaign to help Akin get the lifesaving treatment he desperately needs. Together, we can make this possible for Akin and others like him. Let’s come together to ensure no child or family faces this battle alone.

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.