Registration Now Open for 2022 RARE Patient Advocacy Summit

Global Genes' summit brings together rare disease community

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by Patricia Inácio, PhD |

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The goal of this year’s Global Genes RARE Patient Advocacy Summit, slated for Sept. 12–14, is to connect rare disease patients, advocates, caregivers, researchers, healthcare professionals, and industry stakeholders — including those involved with aromatic l-amino acid decarboxylase (AADC) deficiency.

“For people living with any of the 10,000+ rare diseases, it’s often difficult to find support, experts, or community, and to have your voice heard,” Craig Martin, CEO of Global Genes, said in a press release.

That’s especially true for AADC deficiency given that the genetic disorder is extremely rare, with only about 120 cases ever reported. AADC deficiency, caused by inherited gene mutations, affects the nervous system, hindering communication between nerve cells. It leads to difficulties in coordinating movements, especially of the head, face, and neck.

“Our summit gathers advocates, caregivers and individuals looking to connect with others from various backgrounds and sectors tied to rare disease and who can help or guide them,” Martin said.

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Registration is now open for the 2022 summit, which will be held at the Town & Country hotel, in San Diego, California. The event — now in its 11th edition — will be hybrid, with both in-person and virtual attendance; the sessions will be live streamed.

Those planning to attend either in person or virtually can register online. The registration fees are tiered by categories, with lower costs for those who will attend virtually.

Connecting with others with rare diseases

The full agenda for the event is set, and includes a wide range of discussion panels on skill building and management for both individuals and organizations. There also will be plenty of guidance and tips for rare disease communities, advocates and families.

“We are living in a time where connection is vitally important,” Martin said. “We provide a unique and welcoming experience where those connections happen, and people are empowered to take the next best steps forward in their journeys.”

Many sessions are tailored for both caregivers and adults with rare diseases, and offer a variety of skills building. For caregivers, sessions include the “Guide to Palliative Care and Complex Care,” “Grandparents as Caregivers,” “Preventing Caregiver Burnout,” and “Grieving as a Community.”

A special session called “The RARE Siblings Experience” recognizes the challenges faced by the brothers and sisters of a person with a rare disease.

Sessions for adults living with a rare disease will focus on “Mental Health” and “How to be Your Own Caregiver.” Additional topics include “F*** This 2.0 – Sex When You’re RARE,” “Stress on Partnerships/Marriage” and “Parenting While RARE”.

One skill-building session will focus on “How to be a Podcast Guest,” and two programs on fundraising will be offered. These are “Fundraising Do’s and Don’ts” and “Fundraising – Where to Place Your Bet.”

Additional sessions will discuss strategies for keeping up the volunteer ranks in the rare diseases community — that one’s titled “Finding and Retaining Volunteers” — and the importance of data and what needs to be collected. That session is titled “Data Tech for RARE Care.”

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This year’s summit will feature as its keynote speaker Gail Devers, the three-time Olympic gold medalist who lives with a rare disease called thyroid eye disease. Also known as Graves’ disease, the autoimmune disease is characterized by inflammation and damage to tissues around the eyes.

Best-selling writer Emily Rapp Black, a mother who lost her son to Tay-Sachs disease, also is a featured speaker. Tay Sachs is a rare genetic disorder that causes the death of nerve cells.

Additionally, the summit will feature a “Storyteller Alley,” in which attendees will learn the power of storytelling as a tool to communicate their organization’s goals and mission.

The “RARE Champions of Hope Awards” will be given to individuals who made a significant impact in advocacy, industry, and medical care, as well as to up-and-coming rare disease leaders.

This year’s summit counts several sponsors, including Horizon TherapeuticsGenentechTravere Therapeutics, and Pfizer