Bionews Advocate Feature:
Richard Poulin III of AADC News
For many parents around the world, a rare disease diagnosis comes earlier than anyone expects it. That was certainly the case with Richard Poulin III and his wife Judy when their daughter Rylae-Ann was diagnosed with Aromatic l-amino acid decarboxylase (AADC) deficiency. Today, Richard is a caregiver advocate for AADC News and has been contributing for a few years now. We interviewed him to get his unique caregiver perspective and to learn more about his family’s journey with this rare disease and how a well-timed clinical trial provided a life-changing treatment for his daughter.
Q1: How did you start contributing here at Bionews?
A: That’s an interesting story. In 2018, my daughter was diagnosed with a rare disease. That took us eight months to figure out. That’s much sooner than most families who sometimes wait years for a diagnosis. Once we knew she had AADC, I was hooked. I did a bunch of research and explored different organizations. Her disease is ultra rare, and I found myself being a wallflower in most of these groups, taking in information as it came to me. Along the way, I noticed a Bionews post come up in my feed for a columnist at AADC News. When I saw that post, I just applied right away. From my first conversation with Matthew Lafluer, I was inspired to start sharing my story about my daughter. Everyone at Bionews has been so supportive. Even though I was a little scared to share my story at first, I received a ton of positive feedback from the community. I’ve been writing ever since.
Q2: Can you explain your writing process? How do you come up with what you want to write?
A: When I started writing for Bionews, my daughter had just undergone a gene therapy treatment. This was significant because she essentially went from being a paraplegic who was fighting for survival to being an independent first grader. At the time, I reflected on my own story of being a lost parent who was desperate for more resources. I wanted to focus on the questions I had and things I wish I would have known before. My goal was to format this content in a succinct way that is digestible for parents so they could understand it. Over time, things have changed since my daughter has lived five years post gene therapy. It’s hard to write sometimes and reflect on those first two years when she was truly that rare disease child. Now, we try to share our daughter’s accomplishments to show other parents what is possible with this disease.
Q3: Tell me about your wife and daughter and the diagnosis journey.
A: My wife and I are similar in the fact that we’re third culture kids. I was born in America, but I grew up in Japan. Judy, my wife, was born in Taiwan, but she grew up in Thailand. We both went to international schools and met each other through that network. She always had a passion for education, specifically special education. She was ahead of the game when it came to our in-home therapy for our daughter, Rylae-Ann. We were both uniquely set up to be successful for our daughter. Our daughter was born on April 1, 2018. It was only eight months after birth that we began to see the signs. At first, it looked like it could be epilepsy. It was actually through a Facebook post that we started to have a hunch that it was this ultra rare disease. We hopped on a plane to Taiwan after reading a research paper. The medical team in Taiwan confirmed the diagnosis of AADC and was actually in the final phase of a clinical trial for gene therapy. It was a life-changing therapy for her and our family. We feel very blessed to have taken part in the trial because we are aware of the astronomical price of the therapy now that it’s on the market. It’s because of this that we try to spend as much effort as we can giving back to the community.
Q4: Did you have any anxiety about the clinical trial?
A: It seems cavalier to say now, but we really didn’t have any anxiety about the trial itself because our backs were against the wall. It was either we do this or our daughter dies. Also, we felt like we had done enough research to feel confident in the surgery. The surgery itself took several hours, but it was only a couple of days later that she was discharged and sent home with basic wound care instructions.
Q5: AADC isn’t a disease you hear about every day. Tell me about that journey early on leading up to and including the diagnosis.
A: I don’t fault my doctors, but what they were saying early on didn’t match what we were seeing at home. We couldn’t just sit by and let our daughter suffer. Going through the literature, it became clearer to us why so many doctors misdiagnose AADC. This is what led us to understanding that it was a neurotransmitter disease. It fit every symptom we were seeing in our daughter. It’s a difficult disease to understand. Looking back and going through all of these confusing white papers, that really inspired us later on and still today to make the literature easier to understand for parents. Now, when I explain it to people, they get it right away.
Q6: What are the unique challenges of a pediatric diagnosis like AADC?
A: When you hear about a kid who has cancer or a rare disease, all you can think about is the innocence of the child. You just see this sweet child who is suffering and has done nothing wrong to anyone. When it’s your own child, it’s even worse. Before my daughter was born, we had all of these plans for her life. When she was born, it all became so much simpler. I just wanted her to be able to walk, to hold my hand. We just wanted her to be able to experience the magic of childhood.
Q7: From the caretaker perspective, what lessons have you learned along the way?
A: There just weren’t a lot of resources in the beginning. I like to look back on the work I’ve done on AADC news to see that catalog of information. Through that process, I learned a lot about myself. Especially when I read other Bionews posts, those parents are doing the same thing. At the end of the day, when we talk to doctors, they always tell us we’re the experts. We have the experience of taking care of our child. Connecting with other community members, we’ve been able to gain even more experience. It’s a learning process. We find ourselves bouncing ideas and strategies off other parents. This helps us streamline things and find ways to be better caretakers and to make the lifestyle at home easier for our daughter.
Q8: You talk in one of your columns about adapting certain holidays to Rylae-Ann’s specific needs and how, in a way, it makes those moments more meaningful. Talk to me about that.
A: Before she was born, we just thought we had it all planned out. The devastating news of the diagnosis and symptoms led to this chance at gene therapy. We started seeing results and quickly started pushing her in the direction, forcing her to fit into those dreams we had for her. We had to take a step back and realize that this is her moment, her celebration. We don’t have to follow all of these traditions. As soon as we took a different perspective, everyone was happier. She was happier. We were happier. Just because our dreams are different from what we thought they were going to be, they’re no less meaningful.
Q9: How has working with Bionews helped with your own advocacy?
A: Bionews has empowered me so much. Not only with sharing my story, but in being proactive with other doctors and organizations in the community. Just knowing I have this voice and this power, it fueled us to get our non-profit going. With Bionews in our corner, nothing seems impossible anymore.
Q10: Anything else you want to say?
A: For anyone out there who feels like they don’t have a voice, I would encourage them to step out. Don’t be a wallflower. You have the potential to make a difference. Additionally, there is a major therapeutic effect it has on yourself when you start to share your stories. It’s good for you and you have the ability to help other families.
We’re so grateful for Richard’s contribution to Bionews and are inspired daily by him and his wife’s advocacy in service to their daughter and other families impacted by rare diseases. If you’d like to read some of Richard’s work, he has hand-selected some of his favorite articles just for you. Click any of the links below to continue reading!
Preventing Aspiration After Feeding in AADC Children
Preventing Hip Dislocation in Children With AADC Deficiency
Celebrating a personal milestone and an FDA approval
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