Rare Disease Advocacy Groups Need to Join Together

Описание: Megan O'Boyle, chair of the Registry and Repository Committee and board member of the Phelan-McDermid Syndrome Foundation is a strong and vocal advocate for her daughter, Shannon.
Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22. There is a wide range of symptoms and severity of symptoms observed in people with Phelan-McDermid Syndrome.
As discussed in this video taped during RDLA's Lobby Day events in Washington D.C., the purpose of the Lobby Day event was two fold. First, to allow patient groups to meet with their Congress in one on one meetings. Second, the event allows the various groups within the rare disease community to start thinking of more efficient ways to get their messages across. In Ms O'Boyle's opinion, and in a growing number of others in the rare disease community (eg, see our article on Here Us Nowhttp://www.raredr.com/advocacy/articl..., the best way for each individual rare disease group to succeed is by the groups working together as one unified voice. Not an easy task but we at Rare Disease Report will do anything we can to help visionaries such as Ms. O'Boyle achieve that goal.