Sharing Our AADC Deficiency Diagnostic Journey at SSIEM 2022
Energy, advocacy, hope, and knowledge are takeaways from this year's event
After work a week ago, on a Monday, it was straight home. We grabbed our packed suitcases and headed for the airport. We arrived with an hour to spare, but then we had time to let the anticipation sink in about speaking in front of several hundred doctors.
My wife, Judy, and I have given presentations many times, but our introduction to the world of rare diseases began in December 2019, when our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency. This was just before the COVID-19 pandemic started, so our world transformed yet again, and speaking events were always online. Presenting online was still daunting, knowing that hundreds of people were watching and listening.
SSIEM 2022
These events led us to be invited to speak at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium in Freiburg, Germany, held from Aug. 30 to Sept. 2. The aim of the society is to foster the study of inherited metabolic disorders and related topics.
Of course, we had to bring Rylae-Ann along to have more memories and adventures. Although we were missing work and Rylae-Ann was missing school, the opportunity to travel together as a family to Europe was too great to pass up. Additionally, our presentation was centered around Rylae-Ann’s story, so she had a right to be there. She didn’t attend the presentation, but instead was able to wander around the array of magical-looking booths and enjoy all the wonderful snacks.
Inside were several halls where speeches were happening simultaneously. The ground floor had stunning booths by companies featuring their latest products and services. To me, it was a large building dedicated to everything genetics.
Before the audience arrives, we do a final audio and media check to prepare for our speech at the 2022 SSIEM Annual Symposium in Freiburg, Germany. (Courtesy of Richard E. Poulin III)
Our presentation
Our speech was a part of the “Transformative Science in Action: Gene Therapy for AADC Deficiency” symposium. It featured three doctors dedicated to AADC deficiency: Paul Wuh-Liang Hwu, from National Taiwan University Hospital; Agathe Roubertie, from Hôpital Gui de Chauliac Montpellier; and Volker Mall, from the Technical University of Munich.
Because these highly regarded healthcare professionals were speaking, the audience was composed of other passionate healthcare professionals who wanted to learn more about rare diseases, AADC deficiency, and gene therapy.
We were scheduled to speak in the middle. Our heart rate was probably visible through the collar of our shirts as we presented alongside highly regarded doctors and in front of hundreds more. However, we believe in our mission and were honored for the opportunity.
My wife began the presentation strong and confident. It made me want to do the same. We shared our perspectives as parents by discussing the challenges of receiving a diagnosis, the consequences of misdiagnosis, and the benefits of receiving a correct diagnosis early. Our diagnostic journey is shared by many in our ADDC deficiency community and the rare disease community as a whole.
The doctors’ speeches provided an overview of the long-term efficacy and safety data from the eladocagene exuparvovec clinical trials in patients with AADC deficiency. Long-term data came from Taiwan, and the more recent data was from France. After the speeches concluded, the panel closed with a question-and-answer session with the audience.
Any of the audience members who were outside the venue after the presentation were able to see the results firsthand. Our daughter was excited to be in a new place, plus she was feeling the effects of the tasty sugary snacks. She greeted, danced, and smiled. She seemed to love the attention and showing off her newly learned skills.
Richard and Judy share their perspective about their family’s AADC deficiency diagnostic journey at the recent 2022 SSIEM Annual Symposium. (Courtesy of Richard E. Poulin III)
Hope for AADC deficiency
The audience was supportive, which gives AADC deficiency and the rare disease community so much hope. The healthcare professionals who attended our event wanted to improve their diagnostic practice and hear from parents. They also wanted to learn about the latest diagnostic methods and future treatments available. Their attendance meant so much to us.
During the symposium, we met people from other rare disease organizations and advocates and saw others we know well. Before we had to catch a plane back home to Bangkok, we got the chance to see the old city and eat delicious food. It was an amazing vacation and another beautiful destination.
Rylae-Ann takes in the sights during a recent trip to Freiburg, Germany. (Courtesy of Richard E. Poulin III)
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.
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