Making Progress With AADC Deficiency Doesn’t Mean Forgetting the Past

Twelve plane trips, five states, and several adventures later, I feel blessed our family had a marvelous month-long summer vacation. However, as the vacation comes to a close, I am reminded that although our daughter, Rylae-Ann, received gene therapy to treat her aromatic l-amino acid decarboxylase (AADC) deficiency, we still need to be aware of her challenges.

Toward the end of our trip from Thailand to the U.S., my wife and I began to feel tired, and we longed for the benefits a schedule offers. Rylae-Ann noticed it substantially more. She ran a slight fever and spent three days exhausted inside a cool room. I believe all the excitement caught up to her, which left her constantly sleeping, awaking only to eat.

These three days brought our plans to a screeching halt. Our daughter was fine, but our parenting experiences before gene therapy come rushing to mind whenever anything out of the ordinary happens. It was good to have this downtime, because it was an important reminder.

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During our vacation, we went on easy forest treks, took trips to the beach to watch the sun rise and set, swam in pools, and played in plenty of parks. We visited friends, received kisses from family we hadn’t seen in years, and ate delicious food regardless of the consequences for our waistline.

Rylae-Ann celebrates as we reach the end of our trek through a forest in Florida, on a recent steaming-hot morning. (Photo by Richard E. Poulin III)

Yet creating these precious memories took a toll on our daughter. The more progress she makes, the more I forget that she has AADC deficiency. This is a remarkable feeling that I dreamed of having, but our family must remain aware that she is still overcoming challenges.

In hindsight, I would have broken up our long vacation into shorter ones. Three-day holidays would be the most ideal. I also would limit the amount of traveling as much as possible. We have a fantastic time and make beautiful memories in our own neighborhood and according to our regular schedule. Just because we have days off doesn’t mean we have to take several plane trips to find happiness.

Visiting the Eiffel Tower or exploring Yellowstone National Park would be fantastic, but we can still create incredible adventures without traveling long distances. In addition to reducing stress, this would also limit our child’s exposure to COVID-19 and other infections.

Remembering how far Rylae-Ann has come is motivation to continue doing what has brought her success. Although our family might not have the traditional “family vacation” in the future, we can still have memorable moments in our own way.

Rylae-Ann enjoyed many visits to the beach during the summer break, but vacation plans should consider her health first and foremost. (Photo by Richard E. Poulin III)

I do not regret our trip — it has been a fabulous adventure. However, moving forward as a family, we’ve decided that vacations should be much shorter and closer to home. Rylae-Ann’s progress was due to her schedule, diet, and sleep. Interrupting this means we are interrupting her progress. Beautiful destinations can be found right at home.

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.