Our daughter, Rylae-Ann, blinked her eyes a few times before scanning the white room. A warm smile instantly appeared when her hazel eyes fell on my wife, Judy. That’s how she began the first day of her new life. In November 2019, Rylae-Ann underwent experimental gene therapy…
The Journey of Beautiful Destinations — Richard E. Poulin III
Richard E. Poulin III is an American currently working as Head of Middle School for an international school in Bangkok, Thailand. He is also the president of the nonprofit organization Teach RARE. In 2018 his newborn daughter, Rylae-Ann, was diagnosed with the ultra-rare disease, aromatic l-amino acid decarboxylase deficiency. Richard shares his journey and aims to provide caregivers with strategies and tips to improve their family’s journey.
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Before we had a diagnosis, before we understood words like “neurotransmitters” or “genetic mutations,” my wife, Judy, and I were just doing what new parents are told to do. We put our daughter on her stomach and encouraged her to lift her head. Tummy time. Simple in theory. Not so…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease with only about 135 cases seen worldwide since it was identified in 1990. So where do we go for help, and how do we care for our daughter? These were questions my wife, Judy,…
Meeting another father whose daughter has a rare disease always prompts a free-flowing and earnest discussion. When it happens, I don’t refrain from opening up. I had an eye-opening experience during a recent meeting with a father with over 25 years of experience in the world of rare diseases. The…
My full and undivided attention was dedicated to navigating the stroller over cobblestone sidewalks. When I reached the end, I executed a 180-degree motion so that the back wheels descended the high curb first since there was no ramp. Potholes, stairs, and crowds were some of the other challenges we…
Warm water flows across our child’s scalp and soothes her. Other times, the water tickles her and makes her feel anxious. Over time, these observations supported us in making her bathing experience pleasant. Children with aromatic l-amino decarboxylase (AADC) deficiency will have severe symptoms such as…
Our daughter throws a toy across the room or whines about not having an iPad before plopping her hands in her food at dinnertime. While these frustrating behaviors are an annoyance, they’re also a luxury we’re fortunate to deal with. During an online discussion with other parents whose children received…
While holding my daughter Rylae-Ann’s hands like a puppeteer, I allowed her fingers to touch the wet snout of a horse. She let out a giggle. That was the moment her love for animals began. After we learned that Rylae-Ann has a rare neurotransmitter disease known as…
The clock struck 3:10 in the afternoon, and the bell let out a final scream. I waved goodbye and gave high-fives to eager students. The middle of June marks the end of my academic year as principal and the start of a long break, for which I’ve dedicated several weeks…
We prepared each meal with diligent slicing, dicing, and pureeing. Each menu and food item was selected thoughtfully for its necessary nutrition. With each spoonful of food, however, anxiety filled our hearts that this one might send our daughter, Rylae-Ann, back to the emergency room. My wife and I did…
Years ago, my wife, Judy, and I received the news that our daughter’s clinical trial application had been approved, allowing her to receive an experimental therapy for her rare and life-threatening disease, aromatic l-amino acid decarboxylase (AADC) deficiency. As our cheers subsided, questions began to fill the air.
Instead of asking what’s the matter with my child, ask what matters to my child. What do I need for them to be happy and successful? After our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, the traditional milestones by age went out the window.
It took years of persuading our daughter, Rylae-Ann, to hop into the curved seat of the playground swing on her own and enjoy the freedom and weightlessness of swinging. When she turned 5 in April, we filmed and shared this significant achievement with family and friends after she finally…
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