The Wait For Gene Therapy
The day after Christmas in December 2019, our daughter, Rylae-Ann, received a doctor’s diagnosis she had a rare neurotransmitter disorder known as aromatic l-amino acid decarboxylase (AADC) deficiency. We found the team in Taiwan based on a research paper that presented information from two previous clinical trials. At the time, we did not know if there were any future clinical trial or if the drug under review was yet approved. However, we had a hunch our daughter had this rare disease that affects just over 100 people worldwide and our hunch was right.
At that same appointment, we thankfully discovered that there was another clinical trial available. It would be in about a year’s time as a lot of preparation was need and documents to be completed. Although we had this hope, we felt nervous for the entire wait that was about one year. During that time, it was crucial to keep our daughter healthy and eligible for the surgery.
The confirmation came about one month before Rylae-Ann’s scheduled surgery date. We lived and worked in Singapore, and knew the surgery would be in Taiwan. We were always ready to leave at a moments notice. Prior to that, it was a painful waiting game. The waiting was mainly spent indoors out of fear Rylae would get sick. So we tried our best to focus on feeding and doing therapy to the best of our ability – we were very much a beginner in those early days.
Finally on September 9th, 2019 I received a text message from the assistant managing the clinical trial. She alerted us that there was a date and we can start booking flights to Taiwan for surgery. It was the best news ever! I immediately booked us tickets for October 2020.
I was excited for the treatment but a little sad that we were going to be away from her. We still had our jobs in Singapore, so Richard and I would take turns flying back every two weeks.
Support in Taiwan
Our parents came to visit Rylae often and my mom and Rylae’s nanny stayed in Taiwan the entire time. It was difficult to leave Taiwan and return to Singapore, and this was planned to continue for one year. November 13th was her scheduled surgery date and I would definitely be there for that. Leaving Rylae was the hardest part and the first time I was away from my daughter. So much was going in my head but I knew that my mom would be there to take good care of her and that all of this would lead to her having a new life after gene therapy.