The annual NORD Rare Breakthrough Summit was held in Arlington, Virginia on October 21 & 22, 2015. Once again, it was a time to meet with others who advocate for rare diseases. We often find ourselves in the same position, looking to expand awareness, and this is a time we can all communicate and share ideas. Becky and Ellayna had the pleasure of meeting an inspiring man, the opening keynote speaker with a powerful message.
Meet Jono Lancaster, born with Treacher Collins Syndrome, which is a genetic condition affecting 1 in 50,000 people. This condition affects facial bone and tissue development. It may range from unnoticeable to severe. Individuals with Treacher Collins Syndrome have small jaws or chins, underdeveloped cheekbones, sparse eyelashes and eyes that slant downward making them stand out. This diagnoses is also correlated with hearing loss, breathing difficulty and vision problems. In fact, many people who have this condition may become deaf and/or blind eventually.
Jono is an inspiration to everyone, his personality and character motivates all to look past their imperfections, and strive to embrace life. Awesome guy, check out this inspirational video Jono Lancaster.
In addition to Jono, two other patients spoke with enthusiasm. Maddie Shaw age 16, diagnosed with Primary Immune Deficiency Disorder. Maddie has initiative and drive, and started her own organization at the age of 13, called Maddie’s Herd. Maddie wishes to attend college one day, but fears due to the expense of her medical treatments, this may not be affordable.
SMARD is such an extremely isolated, globally invisible disease, was the message Sharon Agli Pageau shared about her son. Hunter Pageau has SMARD, Spinal Muscular Atrophy with Respiratory Distress. There are just about a dozen cases in the U.S, and about 80 worldwide. Sharon encourages people to have hope, love, and to never give up!
The conference followed the same path as in previous years, 3 summits and 3 tracks to choose from on each day. While the topics of the various summits and tracks may not address situations within our organization, they are informative and give hope to other organizations.
Becky and Lex were fortunate to arrange a brief meeting with Mary Dunkle, Vice President of Educational Initiatives at NORD. Her plan is to increase awareness of patient advocacy organizations, such as ours.
NORD continues to endeavor for excellence! “The 2015 Breakthrough Summit was concentrated with innovative content and convenes the top leaders from the FDA, NIH, Industry, Patient Groups, Payers and Research Institutions to address the progress of rare disease diagnosis, genomics, drug development, patient engagement, patient-centered research models, product approvals, FDA oversight and market access to orphan products.”