Rare Disease Leadership Summit

Posted Tuesday July 26, 2011 by Melissa

White House

Recently, I was blessed enough to attend the 6th Annual Rare Disease Leadership Summit in Washington, DC. If you’re interested, you can download the agenda to review.

Dr. Emil Kakkis

Dr. Emil Kakkis, one of the original researchers and developers of ERT

Also, yesterday the Washington Post included a special section on rare disease that featured many of the speakers from the summit. I was incredibly lucky to have been able to meet them in person and really pick their brains about how we shape and progress awareness and the rare disease agenda in government, pharma, and the like. If you have not read that section and want to understand more about rare disease, I would highly recommend it. You’ll find the common themes of stronger pharma entry into the rare disease space, parent advocates who are both detective and caretaker, and the key role that rare disease research plays in the broader spectrum of medical research.

But back to the summit…. It was interesting, as a parent advocate of a child with a rare disease, to peek behind the curtain as it were, to see those that affect our lives greatly, in action. What makes them tick? What are the pressure points of those that serve our families with treatments, programs, research? What can we do to connect with different constituencies involved in rare disease to bring more treatments to market and to serve more families, to bring more understanding and earlier diagnoses?

The interesting part is that my takeways from the summit are entirely consistent and bolstered by the content of the Washington Post section. What struck me the most is that, thankfully, the rare disease agenda is becoming more prominent on the national and international landscape. Big pharma is becoming more involved (and you can decide whether that is for the better or the worse). News stories about rare disease are more common (I was extremely excited about the Washington Post article). The categories of players on our field continues to expand – big pharma, rare disease pharma, PR, social media consultants, clinical trial home care services, relationship marketing experts, pricing experts, rare disease news, registry projects, advocate organizations, and on and on.

Nicole Boice

Nicole Boice, President and Founder of the Children's Rare Disease Network, a R.A.R.E Project

It is an industry, don’t get me wrong. But it is our industry. And I will fight to make sure it remembers why it exists – for Case, for all the other MPS/ML children and adults we’ve met, for all the children whom we love through the computer and who we may never get to meet, and for the memory of those who are dancing in heaven.

And I was just one little parent advocate. I wore my SavingCase shirt. I met the speakers. I exchanged business cards (yes, Case has a card, sophisticated little man that he is…), and I spoke up, just a little.

It opened my eyes from a world of MPS to a world of a multitude of rare diseases, most of which are diagnosed in childhood. Not that we should be overwhelmed by the need to help the entire world, but there are many things we can both accomplish and learn from banding together and analyzing over many conditions.

I have several preliminary suggestions, if you are interested.

  • Subscribe to the CheckOrphan newsletter. It comes regularly by e-mail and it contains interesting updates on treatments, research, rare disease people in the news, events (this is actually how I heard about the Rare Disease Leadership Summit), etc.
  • Browse the Rare Project website, which includes information on the Children’s Rare Disease Network and the Global Genes Project for raising awareness of and funds for rare diseases.

Finally, I also tweet about rare disease news (especially MPS/ML news), MPS/ML clinical trials that are new or updated, research articles when they are published, and other disability and special needs topics, including articles and information from the above sites and feeds. I also tweeted the conference, so feel free to subscribe to my twitter (@savingcase) and review as well.

I will update more extensively about topics from the conference that may be of interest. Feel free to comment with questions.

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One Response to “Rare Disease Leadership Summit”

  1. Thanks Melissa for these interesting blogs – while I knew about some of these things I still appreciate ifferent perspectives and I very much appreciate that you always make the effort to include those of us affected adults when you write. Thank you for that small part!