Searching for Answers as an Undiagnosed Rare Disease

Maximizing Summer Plans

The month of June is a time of year when teachers cheer and parents morn. Summer break means teachers pack their suitcases and head for the door while parents frantically look for activities to keep their children busy.

Before our daughter, Rylae-Ann, was born, this was our life as teachers. My wife, Judy, and I even brought our suitcases to school because we headed to the airport as soon as the final bell rang. All that changed when Rylae-Ann was born.

Although Rylae-Ann came into this world completely healthy, our family spent our first summer break together in and out of hospitals, looking for answers to symptoms that no one could explain. Eventually, we discovered she had a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency.

Our First Summer

Rylae-Ann's first summer break was spent in the hospital while her parents searched for answers.

The following summer break, we were preparing to enter a clinical trial for gene therapy. Instead of packing our bags to fly off to an exotic destination, we boarded an airplane to Taiwan filled with anxiety and hope. The surgery was a great success and Rylae-Ann began to make progress.

Our third summer together was not focused on scouring the internet for summer tour deals; instead, we were searching for therapists. Together, Judy and I took Rylae-Ann to visit a range of specialists, including physical therapists, occupational therapists, speech therapists, sensory integrationists, and so on. After each session, we diligently returned home to work on the strategies the therapists taught us. worked to care for our daughter.

Rylae-Ann made significant progress as a result of our efforts. We would have much preferred heading to Hawaii, but we knew the work we did for our daughter early on would pay off later.

Post-Gene Therapy Intensive Therapy

After gene therapy, we dedicated our summer break to intensive physical therapy.

The summer of therapy was so beneficial that we knew we had to change our location to an area with greater support. This is why our fourth summer together was spent moving to a new home closer to our family. We said goodbye to our dream home in Singapore and flew to Thailand. We continued the therapy, but we also had to find a home, school, and everything else involved with moving.

It wasn’t until our fifth summer break that we began to feel the anxiety of planning how to entertain our daughter while school was out. Fortunately, through trial and error, her previous summer vacations prepared us for the summer break she was independent. By the time kindergarten graduation rolled around this year, we had a set list of activities for the upcoming summer break that would bring fun, learning, and adventure.

Summer plans

We have a solid framework instead of a schedule that choreographs our family’s every movement. Although a schedule gives more structure and clarity on what happens daily, we found it impractical. Instead, we plan on keeping a general outline of activities that could be done throughout the day and a list of places to visit. The list was more of a menu of activities we could choose from daily.

We can spend our summer days reacting to the day’s situation instead of trying to commit to plans, regardless of the variables that arise. This has created less stress for us while also allowing us to have more engaging activities. Instead of doing an activity that forced Rylae-Ann to join, we shifted plans to adjust to our daughter’s needs.

Caregiver lifestyle

Our day-to-day lives are the perfect time to learn and provide support to help Rylae-Ann complete routines, but realistically, it doesn’t happen as we would like. In the morning, we rush to get to work, so we quickly push Rylae-Ann to do things or even do them for her. By the time we come home, we feel too tired to give our full effort and take shortcuts. Summer is the perfect opportunity to provide our full commitment.

I know it would be better for her to try to complete daily routines even if she fails independently, but in the morning, when we are not on break, we are focused on quickly doing all we need to do and getting out of the door as soon as possible.

During the summer, all this slows down. We can devote more attention to her dressing, eating, and starting her day independently. For example, feeding meals is the perfect time to practice gross motor skills while enhancing speech. When it comes to dressing, it is quicker if we dress her ourselves. Putting shoes on can steal precious seconds when we are already late for work. The extra time in the summer transfers to greater patience and time so we can truly create a caregiver lifestyle.

New activities

During summer Rylae-Ann works on Speech Therapy goals.
By dedicating summer breaks to therapy, Rylae-Ann is an independent girl.

My favorite part of summer is trying new activities. Judy and I have cut back on our vacation trips, but we will still make time for therapy travel tours to Taiwan. This year, instead of spending all of our time on an airplane, we decided we would have a list of new activities to try before summer came around. Regardless of the location, the goal is to integrate her therapy goals.

Summer break 2023 was a time for traveling, learning, and achieving therapy goals for Rylae-Ann.

The list of summer activities we plan is not sequential. Instead, we choose from it as summer unfolds. Decisions are based on Rylae-Ann’s current situation, the weather, and our preferences as patients. However, the summer exposes our daughter to new ideas, strategies, and topics. 

These approaches don’t have to be summer for them to work. When we have time off from work, we plan how to maximize our time together. The overarching goal is to have fun while achieving some of her goals. Summer is about to begin, and we look forward to the adventure together.

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