Houston Meetup a Rare Opportunity for AADC Deficiency Families

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by Richard E. Poulin III |

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As my friends and I sat in the shade under two large cabanas, members of the hotel staff brought us cool drinks and delicious Texas barbecue. Although it was hot, a cool breeze continuously flowed, and we took periodic dips in the pool. This experience was rare because I was surrounded by other parents whose children also have aromatic L-amino acid decarboxylase (AADC) deficiency.

The event was an AADC deficiency meetup July 19–21 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. Because only about 135 cases of AADC deficiency have been described globally since 1990, it was a massive gathering for our rare disease community.

Upon arrival, we were all greeted by AADC Family Network founder Kelly Heger, who was responsible for securing the funding that allowed us all to attend. Along with our room keys, Heger provided a welcome bag full of supportive care products, a $100 gift card, and AADC Family Network swag.

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This generous offering allowed the families to concentrate on connecting and bonding with one another. The AADC Family Network also covered all meals. It felt amazing to be with fellow families on an all-inclusive holiday.

aadc deficiency | AADC News | Supportive gift bags line a table at a recent AADC deficiency family meetup in Houston

At an AADC deficiency meetup July 19-21 in Houston, families were given supportive goods and swag, courtesy of the AADC Family Network. (Photo by Richard E. Poulin III)

Presentations and support

The main event began on the morning of July 20. We started with breakfast together and shared our 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, Heger 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, according to AADC News‘s Marisa Wexler.

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 hourlong parent workshop covering supportive activities. We applied our background in education to develop workshops and resources for parents in the rare disease community that combine play-based learning with physical, occupational, and speech therapy goals.

aadc deficiency | AADC News | Richard's daughter, Rylae-Ann, sits on the floor crosslegged and plays with a parent during a workshop

Our daughter, Rylae-Ann, helps to demonstrate supportive activities during a parent workshop at the recent AADC deficiency family meetup. (Photo by Richard E. Poulin III)

Family time at the pool

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.

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.

aadc deficiency | AADC News | A view looking down on the Texas-shaped swimming pool at the Marriott Marquis Houston hotel.

A view from our room at the Marriott Marquis in Houston, looking down at the hotel’s iconic Texas-shaped pool. (Photo by 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.