On September 20, 2013, my husband, John, and I attended the Global Genes Rare Disease Project Patient Advocacy Summit in Newport Beach, CA. In attendance were over 150 rare disease advocates, patients and community members as well as over 300 people registered for the live webstream of the event. The Summit offered practical advice, case studies and networking opportunities. The goal was to give rare disease advocates a better understanding of the challenges they face and where they can be most effective in helping patients with their diseases.

The Global Genes Rare Project is a leading rare and genetic disease patient advocacy organization. Their mission is to unify the international rare and genetic disease patient advocacy communities by providing connections and resources to ease the burdens of affected individuals and their families. Recognized worldwide by the Blue Denim Genes Ribbon, Global Genes Rare Project unites experts, advocates and patients of all ages in the hope for treatments and cures for the estimated 7,000 rare and genetic diseases that impact 30 million Americans and over 250 million people worldwide.

There was a wealth of talent, experience and education represented at the Summit. I was in awe of the stories of the challenges, successes and failures of the attendees. A common theme among many of the panelists was the importance of collaboration in the rare disease community as collaboration makes future change possible. Developing relations, building connections, sharing best practices and opening up discussions are essential to expanding and unifying our combined impacts. It is imperative to continue the dialogue among rare disease advocates, affected patients, industry representatives, legislative representatives, members of the media, medical personnel and members of the community.

Individual rare diseases have small patient populations, but collectively, the rare disease community is larger than the AIDS and cancer communities combined. Despite its size, the rare disease community lacks a unified voice (e.g., only 1,570 of the 7,000 rare diseases have organization or foundations that provide support). The Global Genes Project’s mission is centered on increasing rare disease awareness, public and physician education and building community through social media. The Global Genes Rare Project Summit was a major step in achieving these lofty goals. Of the over 150 rare disease advocates, patients and community members present, approximately 20 were recognized for their contribution. I am happy to report that the CSRF was one of those recognized!

Author: Louise Pace, CSRF President
Date: Winter, 2013