The Importance of a Comprehensive Check-Up Before Gene Therapy for Children with Rare Diseases
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by
Judy Wei
Another holiday from school means, an opportunity to schedule hospital appointments. Otherwise we would have to take off from work and lose pay. With mounting medical bills and traveling costs, we did our best to avoid that option. We’ve been doing this every holiday. We have become accustomed to this new routine and do our best to make the most of it.
This time, we are traveling for an appointment we have actually been looking forward to. We hop on another plane to Taiwan to attend a check-up that will ensure our daughter, Rylae-Ann, is eligible for gene therapy. For us, gene therapy is more than a revolutionary new advanced medical procedure. It is a chance on life for our daughter.
This check up is for the research team. In addition to checking that Rylae-Ann is healthy for surgery, it also helps to collect data to establish a baseline of her biomarkers before surgery. I’m sure in the future kids won’t have to go through this.
We were lucky enough to stay at Ronald MacDonald’s home in Taiwan. It was very inviting and friendly. Christine Fan and Blackie Chen (a famous basketball player from Taiwan) sponsored the room. It was decorated with pandas, spacious enough for the three of us, and community of other families facing similar challenges.
Ronald Mcdonald House
Day 1:
MRI
Rich took Rylae-Ann through the MRI process because I couldn’t bare to watch her go through the machine. It was difficult to watch her go in that scary tunnel that made me apprehensive just thinking about it. Rylae-Ann did well though. As always, just going in the hospital made her cry and triggered an OGC. We put her sunglasses on so that she would feel more calm. We nervously tapped our feet and waited outside. They had to put her to sleep with a pill since it was important that she remained still until the scan was complete, so after she came out we all remained at the hospital until she woke.
Day 2:
Draw Blood
We spent two days at the hospital when we started the second round of tasks. Doctors began by drawing her blood. Taking blood has always been difficult. Our daughter began by having an anxiety attack where she screams and kicks. All the movement makes it impossible, so we all work together to hold her down. Once we subdue her, the doctors never found a vein easily. Talking with parents in the AADC deficiency community, drawing blood seems to be a difficult process for all the children. Once it was all over, we went to the hospital room. I slept on the hospital bed with Rylae-Ann, while Rich slept on the sofa.
Day 3:
Meet Dr. Hwu
On the second day we woke and went to the neurological floor. We were the first in line to meet Dr. Hwu. It’s usually packed in NTUH and the waiting time takes forever, so staying at the hospital ended up be a good decision to speed up the process. When we met with Dr. Hwu, he shared that the check-ups were fine. This was exciting news because it meant Rylae-Ann was on track to receive gene therapy later in the year. However, she would still require another check-up one month before gene therapy. Nonetheless, ee were excited that she was eligible for gene therapy. We left to celebrate and share the good news with family.
Day 4:
Meet Surgeon
This was the first time we met the surgeon who would be performing the surgery. Prior to this, we only met the neurological and genetic doctors. Gene therapy requires coordination between several departments. The surgeon shared with us how the procedure would be performed and details about how long it may take. He also shared potential complications that we should be aware of. If surgery went wrong, she could have dyskenisa for a while or she could die from a blood clot. It was scary to hear this, but we were still very excited since not having treatment was guaranteed negative consequences.
This checkup brought us closer to our daughter receiving gene therapy. Although we had to travel and our daughter had to undergo several tests, we received notification that she was eligible for gene therapy.
