On September 20th and 21st, I had the honor of attending the Global Genes Patient Advocacy Summit and the Tribute to Champions of Hope Gala in Newport Beach, California. Global Genes is an organization passionately dedicated to advocating, unifying and bringing much needed awareness to the rare disease community. After a close friend had a child born with a rare disease, Nicole Boice was introduced to life with a rare disease and learned first hand that rare diseases, although rare, are collectively larger than the combination of both the AIDS and cancer communities.
Although rare disease as a whole affects such a large amount of people, only a very small percentage of these diseases have an organization to advocate for them and support research. Something desperately needed to be done. In 2009, Nicole Boice founded the Global Genes Project with the mission to give patients/parents/families of rare disease the tools and opportunities to become advocates, network with others and bring the rare community together in support of each other, research and education. Please visit www.globalgenes.org to learn more about this wonderful organization. To hear president Nicole Boice share about her inspiration and hope for Global Genes and all rare diseases, please click here.
Friedreich’s Ataxia (FA) is one of 7,000 rare diseases worldwide and also one of the small percentage of rare diseases with a national organization that is wholly dedicated to supporting everyone (around the world) affected by Friedreich’s Ataxia, advancing research for treatment and a cure, and sharing inspiration and hope. The Friedreich’s Ataxia Research Alliance (FARA) has done so much for the FA community, I think I’d have a really hard time expressing how completely grateful I am for our FA warriors! What’s even more incredible is that the FA community is also greatly supported by the National Ataxia Foundation (NAF) and the Muscular Dystrophy Association (MDA). Please take some time to thank these organizations and the people driving them for all their faithful efforts. The FA community has much to be thankful for and hopeful about.
So back to why I am writing this post (I knew I would have a hard time not being overly wordy here!), my weekend with Global Genes was incredible! This opportunity to attend last weekend’s events came from the fantastic people of ViroPharma. ViroPharma is a pharmaceutical company that is one of Global Gene’s partners AND have a study drug for Friedreich’s Ataxia, VP 20629. VP 20629 is headed into clinical trial Phase 1B. Many thanks to ViroPharma!
Friday, September 20, 2013 was Global Gene’s 2nd Annual Patient Advocacy Summit, a full day of various sessions with different panels of rare disease advocates and researchers. Throughout the day, the overwhelming themes were hope and strength. The hope that comes with the knowledge that something CAN and WILL be done to help yourself, your loved ones and so many others affected by a life-altering rare disease. The strength that each and every one of us possesses to make an impact! Over and over we heard stories from panelists that had decided they needed to take a stand to be an advocate. It’s so encouraging to hear that YOU can be an advocate! YOU can make a difference! YOU can be an inspiration! It was a very empowering day.
One of the highlights of the day was getting to sit at the same table with Dr. Stephen Groft of the National Institutes of Health (NIH). Dr. Groft is Director of the Office of Rare Diseases Research (ORDR) at the NIH. Dr. Groft is definitely one of the most compassionate, warm, selfless and humble individuals I have ever had the opportunity to cross paths with. My brother, Keith, and sister-in-law, Caryn, loved talking with him as much as I did. Actually, on the way home, Caryn kept referring to Dr. Groft as her buddy Steve. Haha! He just gives off that vibe that he genuinely wants to be your good pal. Towards the end of the day I found myself telling my new friend Steve about the EPI-743 trial for FA I am currently participating in at UCLA. He was very interested and asked about the details, and as I was explaining the process, I stopped myself. I was attempting to detail something Dr. Groft knows like the back of his hand. He just chuckled and said, “But you’ve learned so much!” Did I mention he is humble?! Thank you, Dr. Groft for dedicating so much of yourself to the NIH and especially rare diseases, it’s an honor to have someone like you on our side!
We made our way back to the Balboa Bay Club in Newport Beach the next night for the 2nd Annual Tribute to Champions of Hope Gala. The gala was a blue-tie affair. Blue in honor of the “blue” or rare genes that are most often the cause of rare disease. All the guests were even welcomed on a BLUE carpet upon arrival! All the decorations were beautiful, the most fitting indication of a truly beautiful night. A cocktail reception led into the dinner event complete with entertainment, inspirational speakers and awards. Keith, Caryn and I were invited to sit at table 35 with the lovely representatives of ViroPharma. Tribute to Champions of Hope is a perfect description of what the evening was. I was attempting to take some notes of words that were spoken and one of the quotes I wrote down was from Dr. John Carey, MD, MPH honored as a Champion of Hope; “There is no such thing as false hope. Those two words cannot exist together.” Wow. I love that, we do not have false hope. I cannot think of anything more encouraging!
There were many Champions of Hope recognized that night, all very, very deserving with stories so inspiring! (How many times have I said that word? Inspiring. I have been SO inspired!) One of the honorees was Dr. Stephen Groft (our new
friend!), he was given the Henri Termeer Lifetime Achievement Award. Take a few quick minutes to read about the incredible impact Dr. Groft has made on the world of rare diseases. There were so many incredibly worthy and touching Champions of Hope honored that night, there is simply not enough room to share about each one of them here. This post might end up being longer than anyone would ever read. I told you I was going to have a hard time not being overly wordy!
Thank you, thank you to Nicole Boice, Carrie Ostrea, all of Team R.A.R.E. and everyone involved in Global Genes, the patient advocacy summit and the Tribute to Champions of Hope Gala and ViroPharma. Keith, Caryn and I were completely honored to attend this year’s events! Global Genes is big on hope, they say “Hope begins with you.” Be inspired. Be empowered. Make a difference. Impact others. Have hope. Share hope!
Rear more from Stephanie here: https://curefa.org/ambassadors/we-care-about-rare/