Celebrating the success of others in the AADC deficiency community

My wife, Judy, and I sat on our sofa in a cool, dark room despite it being the middle of the afternoon. We tried to keep our daughter asleep in an effort to avoid the dreaded spell that came every three days. Our phones were nowhere to be seen because happy families and successful children were the last thing we wanted to see.

When our daughter, Rylae-Ann, was 3 months old, we began to see her cross her eyes, tense her muscles, and thrust her tongue. We referred to them as spells but later learned they were oculogyric crises, which are telltale signs of the rare disease aromatic l-amino acid decarboxylase (AADC) deficiency.

Richard and Judy Poulin pose with their newborn, Rylae-Ann, in 2018, before she started showing symptoms of AADC deficiency. (Courtesy of Richard E. Poulin III)

From that moment on, we knew that the life we had envisioned had vanished, and we faced a new reality. It was very difficult for us to understand it. When it became clear that Rylae-Ann had a rare and potentially fatal disease, it was difficult to accept.

When Judy and I entered this new world of rare diseases, we isolated ourselves. We cut off communication with friends and family members. We disconnected completely from social media and only confided in each other.

We didn’t even want to connect with support groups or other families in the AADC deficiency network. This is a normal process of grief, but the shorter one spends in this phase, the better.

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The limitations of isolation

I couldn’t pick up my phone to look at social media. It killed me to see others living a dream I longed for. At the time, it made sense that I would recoil and hide. I didn’t want to hate others for being happy, but I also wasn’t capable of witnessing it.

Over time, I realized there were limitations to not opening up. The first was the obvious personal turmoil it caused me. I kept my feelings locked up inside and refused much-needed assistance. This made me susceptible to depression and took away the precious energy I needed to care for my daughter.

Isolation also prevented Judy and me from learning more. We acted like wallflowers in the support groups we eventually joined. It seemed like we were soaking up information, but it wasn’t as meaningful as it could’ve been had we shared the specifics of Rylae-Ann’s challenges.

A paradigm shift

During an AADC Family Network meeting, I was acting like my typical isolated self as I listened to other parents talk. A father spoke in front of the group and gave a passionate and heart-wrenching story that was similar to ours. I sat in the back taking and not giving.

I thought about how brave he was and how weak I was. During that meeting, I learned to speak up and share my story with our community. It took some time for me to be vocal beyond our small, rare disease community, but it felt like a huge step.

From that moment on, I felt a new sense of motivation. Other parents cheered us on and gave us specific support information. I began to realize that opening up supported my daughter. Judy and I received better care and were able to provide better support.

After talking with Matt Lafleur, a columnist for Friedreich’s Ataxia News and then-associate director of columns for Bionews, the parent company of this website, I felt empowered to share our story with the public. I joined AADC News as a columnist. It was like a snowball effect from that point on. The more I shared, the more motivation and information I had to support my daughter.

Eventually, I rejoined Facebook. I spoke up to family and friends that I had ignored. Their jaws dropped upon learning three years later what Judy and I were dealing with. With the news finally out, Judy and I slowly had a greater presence on social media.

We learned about other families facing similar issues. We also met families who had a much more difficult time than we did. Regardless, we celebrated each milestone and achievement they experienced.

To an outsider, the achievements we celebrated may seem small, but they were huge to our new friends in the community and worthy of attention and praise. This was when we began to see the greatest gains by our daughter. We began to realize we lived an amazing life.

Rylae-Ann climbs the steps to a temple in Taiwan during a recent summer trip. (Photo by Richard E. Poulin III)

A return to normalcy

It may have been different from our dreams, but Judy and I were still capable of happiness. By learning to be happy with ourselves, we could return to a steady life.

I am very proud of all that Rylae-Ann has accomplished, but I am also aware of her limitations. Learning to be happy for others helps to build motivation and allows our family to focus on the positive aspects of our life.

We each have our own journeys. Each step we take is enriched the more we open up and spread positivity to others on similar challenging journeys.

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.