The event was an AADC deficiency meetup July 19–21, 2022 in Houston, made possible by the AADC Family Network. Ten AADC deficiency families arrived from eight countries, with 32 participants enjoying life and family while having a well-deserved vacation together. With about 130 cases of AADC deficiency described globally since 1990, it was a massive gathering for our rare disease community.
Upon arrival, we help to greet all families. As families arrived, they received their room keys, a welcome bag full of supportive care products, a $100 gift card, and AADC Family Network swag.
The main event began on the morning of July 20. We started with breakfast together and shared stories. A large, private dining room was reserved just for us, so we could easily fit all the strollers and gear that go along with caring for a child with AADC deficiency.
After breakfast, Kelly Heger, the founder of AADC Family Network and ALADD Foundation, delivered a welcoming address in which she shared her daughter’s story of being the fourth person in the world to be diagnosed with AADC deficiency. She also explained how she’d created the foundation and become a nurse to provide better care for her daughter and other members of our community. It’s a very inspirational story.
Next was a virtual presentation from Matthew Klein, MD, chief operating officer at the pharmaceutical company PTC Therapeutics. Klein began his presentation with the joyous news that PTC Therapeutics had just received authorization from the European Commission to market the gene therapy Upstaza (eladocagene exuparvovec) to treat AADC deficiency in patients ages 18 months and older. The timing of the announcement, which drew cheers and applause, couldn’t have been more perfect.PTC also intends to request U.S. Food and Drug Administration approval of Upstaza in the third quarter of this year.
Klein’s presentation featured data from children who’d received Upstaza treatment in clinical trials. A key takeaway was that while each participant responded to treatment at a different pace, they all showed improved physical, cognitive, and overall health results. The presentation provided hope to a community that has been waiting for an approved treatment for decades.
Before concluding his presentation, Klein offered a Q&A session with parents in which he patiently and professionally answered everyone’s questions.
Next, my wife and I held an hour-long parent workshop covering supportive activities. We applied our background in education to develop workshops and resources for parents in the rare disease community that combines play-based learning with physical, occupational, and speech therapy goals. Our daughter, Rylae-Ann, helped to demonstrate supportive activities during a parent workshop at the recent AADC deficiency family meetup.
The day’s event concluded with lunch at the hotel’s iconic, Texas-shaped lazy pool. Again, we shared food and cool drinks. Everyone agreed that this was the highlight of our trip together. We were just another group at the pool having fun. We talked for hours as the afternoon blended into the night. Together, we escaped the challenges of being a parent in the rare disease community and instead connected to celebrate the joys of parenthood.
The pool also provided a large open area to practice and review activities shared earlier in the day. We used products that were provided in the welcome bags. This ensured parents would have a supply of equipment to begin supporting their children at home.
It was great to meet everyone face to face, and we could hold each other’s children and better connect. Although the event lasted only three days, it was a memorable occasion that will forever be etched in all of our minds. We are all looking forward to another rare event together.