Highlights From This Year’s AADC Deficiency Awareness Day Event

Columnist Richard E. Poulin III offers a rundown of the virtual gathering

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by Richard E. Poulin III |

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In a sea of more than 7,000 rare diseases, it is remarkable to have a day to call our own.

In 2020, the AADC Family Network established AADC Deficiency Awareness Day, which is now held annually on Oct. 23. Over the past three years, our community has gathered virtually to observe this day, celebrate our accomplishments, raise awareness, and connect with one another.

Aromatic l-amino acid decarboxylase deficiency is a debilitating and rare genetic disorder that causes severe disability. Only about 135 cases have been described worldwide since 1990, though the actual incidence may be higher. My daughter, Rylae-Ann, is one of these patients.

This year’s awareness day event, which was held online on Oct. 21, featured multiple patients, caregivers, and experts. My wife, Judy, and I even shared a presentation to encourage other families and raise awareness. Following are several highlights from the virtual event.

Rylae-Ann stands next to rocks near the beach, with the silhouettes of mountains looming in the background. She has short brown hair and is wearing a blue patterned dress and smiling.

For AADC Deficiency Awareness Day 2022, Rylae-Ann and her family celebrated by going to the beach. (Courtesy of Richard E. Poulin III)

AADC Family Network

The event was hosted by Kelly Heger, founder and executive director of the AADC Family Network, and Bob Coughlin, former CEO and current board member of the Massachusetts Biotechnology Council.

Kelly’s daughter Jillian, 26, was the fourth person in the world to be diagnosed with AADC deficiency. At that time, very little information existed about the condition, and what was available was largely medical jargon. Kelly took action by becoming a registered nurse so she could care for her daughter and establish the nonprofit foundation to advocate and provide support for other AADC deficiency families.

The first guest speaker was Kelly’s husband, Bruce, who gave a presentation about the family’s journey and paid special tribute to everything Kelly has accomplished. It was important to see how far the community has come since the 1990s.

Thanks to their family’s efforts, today we have an international community that can stay in touch through social networks and video conferences. Bruce’s presentation ended with a short highlight from a community meetup in Houston this summer that my family and I attended.

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Gene therapy and medical technology

Matthew Klein, MD, the COO of PTC Therapeutics, discussed the biopharmaceutical company’s gene therapy Upstaza (eladocagene exuparvovec). The European Commission approved the therapy for AADC deficiency patients ages 18 months and older last July, and PTC Therapeutics is now seeking approval in the U.S. Klein explained how gene therapy may benefit patients in our community.

ClearPoint Neuro, a therapy-enabling platform for neurologic diseases, shared an animated presentation about its SmartFlow Cannula device. This device is intended to help doctors administer gene therapy to the brain with extreme accuracy via a minimally invasive procedure. It allows doctors to view real-time MRIs, which can ensure accurate placement and delivery of the drug.

The SmartFlow Cannula is currently being used in clinical trials for several diseases, including AADC deficiency, Friedreich’s ataxia, and Parkinson’s disease. The animation helped to explain how the device works, and it was wonderful to hear that it may benefit multiple rare disease communities.

Legislation

In 2020, Massachusetts became the first state to pass legislation declaring Oct. 23 AADC Deficiency Awareness Day. Last year, similar legislation was introduced in both New Jersey and California. Additionally, Rep. Greg Murphy, MD, of North Carolina, and Rep. Stephen Lynch of Massachusetts, introduced a bipartisan resolution to recognize the awareness day at the federal level.

This year, Ohio and Texas both introduced AADC Deficiency Awareness Day legislation, bringing the total to five states.

Additional resources

The Serbian association Lil’ Brave One (Hrabriša) extended the event by sharing videos of two medical professionals who offered their reflections on AADC Deficiency Awareness Day. Lil’ Brave One provides support to families with children who have neurotransmitter diseases, dopa-reactive dystonias, and other neurometabolic disorders. The organization’s goal is to help families through the diagnosis and treatment process.

Our involvement

Judy and I created two videos that were shared during the event. The first depicted Rylae-Ann’s journey before and after gene therapy to show how it benefited her and to give hope to other families. At the end, we encouraged viewers to share their own stories and participate in rare disease-related events. Through our combined efforts, we can create a global voice for our community and achieve results.

The event concluded with our second video, which featured short clips of nearly 20 AADC deficiency families from all over the world. Judy contacted each of them to ask if they’d introduce themselves and share where they were located. It was an excellent way to see our community’s faces.

The entire event is available to watch online. For those in China who cannot access it via YouTube or Facebook, Judy and I hosted a mirror event through our newly formed nonprofit organization, Teach RARE.

We are inspired by our community members, the affiliated organizations, and the leaders who have helped to give us a voice. Companies like PTC Therapeutics and ClearPoint Neuro are at the forefront of rare disease treatments, and we look forward to future advancements.

Now that we have almost a year before the next AADC Deficiency Awareness Day, it’s time to get to work so that we have even more to celebrate in 2023.

A photo of an inclusive classroom features blue mats on the floor, a swing, a child's trampoline, a small tent, and balls and toys in various sizes and colors.

A recent space Judy and Richard created to support families affected by rare diseases through their nonprofit organization, Teach RARE. (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.