Today is Rare Disease Day. And despite all of the talking, sharing, writing and public speaking I do about my rare disease, HIBM, it is still hard to believe that I actually have one.<\/p>\n
I still can’t fully take in the fact that I have a disease that only a handful of people in the United States are living with and that less than 1,000 people have been diagnosed with in the entire world. (Half of them in Japan living with the Japanese variant of HIBM). Of all the 6 billion people in the world, I am one of the few who got this disease.
\nThere’s no point in dwelling on this fact for too long of course, but every now and again, like when there’s an annual day to acknowledge rare diseases, I am reminded that I am one of those people, for example, in that video that is circulating about rare diseases. (You can check out the one minute video at http:\/\/www.youtube.com\/watch?feature=player_embedded&v=LBVug-GVLg0).<\/p>\n
So, in honor of Rare Disease Day, I am posting a video of the talk I gave in San Diego last Friday at the 3rd Annual Sanford-Burnham Rare Disease Day Symposium. I was invited by the organizer of the event, Dr. Hudson Freeze, who is probably one of the most compassionate scientists I have ever met. The symposium is based on the concept that “treatment of rare diseases requires participation and exchange among all stakeholders\u2014scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists.” Since this talk was to be of a more scientific nature, I was not expecting the kind of response I received from the audience. And I wasn’t expecting to have the emotional reaction I did while speaking. When I have given speeches at the NDF galas in the past, it has been to a ballroom full of familiar faces, but this was in a brightly-lit auditorium, essentially full of strangers (except for my sister and an old friend from residency). I wasn’t expecting to look out and see people staring at me intently, hanging onto my every word, their eyes full of compassion and concern.They quickly transformed from being complete strangers to members of my new community, my people. We were all there fighting the same fight- to raise awareness, to share research, to brainstorm about treating rare diseases and to explore everything from the scientific aspects to the political realities of therapies and interventions for rare diseases.<\/p>\n
So, here is the video. It is about 15 minutes long. If you only have 5 minutes, I would ask you to watch the last 5, as I believe those to be the most important.<\/p>\n
Thank you as always for your support.<\/p>\n","protected":false},"excerpt":{"rendered":"
Today is Rare Disease Day. 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And on this rare, very rainy Friday in Los Angeles, what was most on my mind all day was the fact that before HIBM, I don't think I ever once thought to consider the impact the weather can have on the lives of people\u2026","rel":"","context":"Similar post","block_context":{"text":"Similar post","link":""},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2014\/03\/rain.jpg?fit=730%2C350&ssl=1&resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2014\/03\/rain.jpg?fit=730%2C350&ssl=1&resize=350%2C200 1x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2014\/03\/rain.jpg?fit=730%2C350&ssl=1&resize=525%2C300 1.5x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2014\/03\/rain.jpg?fit=730%2C350&ssl=1&resize=700%2C400 2x"},"classes":[]},{"id":20,"url":"https:\/\/livingwithhibm.com\/?p=20","url_meta":{"origin":29,"position":1},"title":"Rare","author":"admin","date":"February 28, 2013","format":false,"excerpt":"Today marks the 6th international Rare Disease Day, a day dedicated to raising awareness of rare diseases among patients, non-patients and the scientific community. It is a day that would never have been on my radar had I not been diagnosed with HIBM\u00a0almost 7 years ago.\u00a0\u00a0I spent some time thinking\u2026","rel":"","context":"Similar post","block_context":{"text":"Similar post","link":""},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/02\/beach.jpg?fit=730%2C350&ssl=1&resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/02\/beach.jpg?fit=730%2C350&ssl=1&resize=350%2C200 1x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/02\/beach.jpg?fit=730%2C350&ssl=1&resize=525%2C300 1.5x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/02\/beach.jpg?fit=730%2C350&ssl=1&resize=700%2C400 2x"},"classes":[]},{"id":186,"url":"https:\/\/livingwithhibm.com\/?p=186","url_meta":{"origin":29,"position":2},"title":"Chapter 14: The 9.5 Year Phase","author":"admin","date":"July 31, 2015","format":false,"excerpt":"Wouldn't that be so nice? If there were actually an entire textbook dedicated to HIBM? One with an index where I could look up what to expect a year, two years or 10 years from disease onset? With chapters like, \"How Much Exercise is Okay?\" Or, \"What is the Role\u2026","rel":"","context":"Similar post","block_context":{"text":"Similar post","link":""},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2017\/08\/chroma.jpg?fit=730%2C350&ssl=1&resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2017\/08\/chroma.jpg?fit=730%2C350&ssl=1&resize=350%2C200 1x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2017\/08\/chroma.jpg?fit=730%2C350&ssl=1&resize=525%2C300 1.5x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2017\/08\/chroma.jpg?fit=730%2C350&ssl=1&resize=700%2C400 2x"},"classes":[]},{"id":15,"url":"https:\/\/livingwithhibm.com\/?p=15","url_meta":{"origin":29,"position":3},"title":"The Jennifer Room","author":"admin","date":"September 29, 2013","format":false,"excerpt":"About a month ago, I received an invitation to attend a \"Patient Day\" reception hosted by Dr. Emil Kakkis, CEO of Ultragenyx. Ultragenyx is the biotech company that is currently in phase II of a clinical trial for a potential treatment to slow the progression of HIBM. \u00a0Dr. Kakkis was\u2026","rel":"","context":"Similar post","block_context":{"text":"Similar post","link":""},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/09\/IMG_0450.jpg?fit=1024%2C768&ssl=1&resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/09\/IMG_0450.jpg?fit=1024%2C768&ssl=1&resize=350%2C200 1x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/09\/IMG_0450.jpg?fit=1024%2C768&ssl=1&resize=525%2C300 1.5x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2013\/09\/IMG_0450.jpg?fit=1024%2C768&ssl=1&resize=700%2C400 2x"},"classes":[]},{"id":36,"url":"https:\/\/livingwithhibm.com\/?p=36","url_meta":{"origin":29,"position":4},"title":"It’s My Birthday","author":"admin","date":"June 21, 2011","format":false,"excerpt":"I have never blogged before. Maybe because it felt exhibitionistic or maybe because doing so presumes people will be interested in what I have to say. But recently, I have felt a need, an urgent and desperate need to express myself- to share what's going on with me and my\u2026","rel":"","context":"With 5 comments","block_context":{"text":"With 5 comments","link":"https:\/\/livingwithhibm.com\/?p=36#comments"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/06\/candle.jpg?fit=730%2C350&ssl=1&resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/06\/candle.jpg?fit=730%2C350&ssl=1&resize=350%2C200 1x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/06\/candle.jpg?fit=730%2C350&ssl=1&resize=525%2C300 1.5x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/06\/candle.jpg?fit=730%2C350&ssl=1&resize=700%2C400 2x"},"classes":[]},{"id":33,"url":"https:\/\/livingwithhibm.com\/?p=33","url_meta":{"origin":29,"position":5},"title":"When a cold was just a cold…","author":"admin","date":"November 8, 2011","format":false,"excerpt":"This last month has been tough. I have literally been sick with one cold after another for what has felt like an eternity. And though, like most people, I've never enjoyed being under the weather, ever since being diagnosed with HIBM, being sick or suffering some sort of physical discomfort\u2026","rel":"","context":"Similar post","block_context":{"text":"Similar post","link":""},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/11\/cold.jpg?fit=730%2C350&ssl=1&resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/11\/cold.jpg?fit=730%2C350&ssl=1&resize=350%2C200 1x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/11\/cold.jpg?fit=730%2C350&ssl=1&resize=525%2C300 1.5x, https:\/\/i0.wp.com\/livingwithhibm.com\/wp-content\/uploads\/2011\/11\/cold.jpg?fit=730%2C350&ssl=1&resize=700%2C400 2x"},"classes":[]}],"_links":{"self":[{"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/posts\/29","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=29"}],"version-history":[{"count":1,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/posts\/29\/revisions"}],"predecessor-version":[{"id":578,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/posts\/29\/revisions\/578"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=\/wp\/v2\/media\/552"}],"wp:attachment":[{"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=29"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=29"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/livingwithhibm.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=29"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}