Have you ever gone to an event where you were so excited about meeting every last person that even waiting on the Ladies Room line was a chance to meet fascinating people?
The Genetic Diseases of Children Conference, which is taking place in New York right now, is just such an event. Yesterday, I had the opportunity to attend the conference and was desperate to get to know all the speakers and conference attendees because they all have stories and information that is so important for the entire rare disease community.
This is truly an amazing conference because it brings together in large numbers patient organization advocates, scientists and biotech experts, government officials, physicians, and even patient-oriented social media entrepreneurs. It is a chance for a very rare kind of collaboration where the patient’s experience and well-being is really the central concern.
The luminaries in these fields are at the conference, sharing, teaching and learning. Sharon Terry, parent of two children with a genetic disorder and founder and CEO of the Genetic Alliance is both a moderator and a speaker, stressing the importance of groups working together across diseases to increase our power as one community, and as a way of exploring novel treatments for particular disorders. Pat Furlong, the mother of two sons who lost their battle to Duchenne Muscular Dystrophy and CEO of Parent Project Muscular Dystrophy, and recently the subject of a New Yorker profile, was the moderator of an excellent session on “The Impact of Diagnosis from Birth to Adulthood.” The New Yorker article really captured her real life presence, with all its doggedness and invincibility.
James Lupski, a giant in the field of Genomics, was a very illuminating panelist on the subject of sequencing the human genome and the promise of therapeutic benefits from this kind of work. He was able to convey the power of these approaches to both the lay person while keeping scientists in the audience interested. James Heywood, who was inspired to start the superb and innovative website, PatientsLikeMe.org, after his brother succumbed to ALS, was an impassioned speaker. It was a great pleasure to meet him as he is really a pioneer in the field of data sharing among patients. Jamie has brought information sharing to a new level and has managed to convince many of the validity and necessity of this work. There are also extremely focused parents of very sick children just embarking on this journey, without a moment to spare, rabidly networking, searching for better care options for children.
For all of us searching for a better tomorrow, the Genetic Diseases of Children Conference contains a universe of resources. I’m attaching the link to the Conference website so you can all explore the agenda and learn about the speakers. I am hoping that this meeting, the first of its kind sponsored by the State of New York Department of Health, becomes a regular event. The URL for the conference is http://www.wadsworth.org/events/genetics/. While you’re hear check out our gorgeous Congenital Hyperinusulinism International T-shirts, available in three languages and many styles and sizes at: http://www.cafepress.com/Congenitalhyperins
