A Father Perspective on AADC Deficiency
Yong is a loving, caring father of a daughter named Amy. We met Yong online in a Taiwanese group chat for AADC deficiency families. At the time, we were living in Singapore, and he was living in Thailand, where Judy and I had grown up.
We shared a lot in common, but the obvious thread that connected us was that both of our daughters suffered from aromatic l-amino decarboxylase (AADC) deficiency. This fact would forever unite our families. Although we were in separate countries at the time, we continued to share information, tips, and struggles.
Our daughter Rylae-Ann was able to join a clinical trial in Taiwan for gene therapy. Unfortunately, that was the last spot but Yong and his family did not give up hope. Their journey had started before us and their hardship continued longer than us, but Yong always remained positive.
About one year later, there was an announcement of another clinical trial in the USA for gene therapy. Immediately we began announced the information to families. The trial was open to all nationalities, but would require some logistical challenges. Having gone through it ourselves, we were more than ready to help another family in our community.
We had recently moved back to Thailand, so we were in the position to help the family in person. Yong and his wife completed all the necessary documents, visa paperwork and purchased their tickets. While in Texas, they navigated a new medical system, operated in a foreign language, and tried to adjust to a new life.
Yong and his family traveled to Texas to join the clinical trial. His daughter received gene therapy in July 2022. Since then she has been making wonderful progress. Yong’s daughter completed the clinical trial and was able to return back to Thailand. We took the opportunity to reflect on our journey and compare the perspectives of a father of a child with AADC deficiency.