Highlights from Rare Disease Month

Highlights from Rare Disease Month

I tend to prefer sharing updates in the highly addictive Twitter format, it is prompt and to the point, but the events of these past few weeks merit some elaboration.  In fact, this was a month of events, and I will describe only the highlights of the events I was most closely involved. To avoid redundancy, I am enclosing links to all the key events described here; I trust they will be useful.  If you are pressed for time, consider reviewing the meeting at the United Nations by clicking here.

Rare Disease Day events were kicked off on the 12th of February by the elegant Black Pearl Awards gala organized by EURORDIS-Rare Disease Europe.  If you have not attended this event before, I encourage you to add it to your agenda for next year.  The Black Pearl is the largest international celebration of rare disorders. In a glamorous setting, it brings together the patient community, regulators, treating physicians, investigators, industry, diplomats, dignitaries and royalty (both aristocratic and Hollywood).  A key highlight this year was the stunning performance and personal testimony by the magnificent Noémie Desquiotz-Sunnen. The awards ceremony was very moving, with due recognition to many champions in rare disorders. Click here to see the awardees – they deserve your attention and recognition.  

There was no ‘sleeping in’ after the gala, because the next morning, EURORDIS kicked off its 3rd EURORDIS Multi-Stakeholder Symposium on Improving Patients’ Access to Rare Disease Therapies.  (Did you know? You can find a link to ALL of the EURORDIS Round Table of Companies, ERTC, meetings here.)  Of course, there is no substitute for attending in person.  The next meeting will be in the fall–talk to us about how to plan for it!  The focus of this meeting was, as the name indicates, on the breadth of access and the challenges that preclude it.  I think you may also find it useful to review the paper on access issues that EURORDIS prepared (Breaking the Access Deadlock to Leave No One Behind).

Just a few days later, on February 20th, I confess I was a bit stunned entering Microsoft’s NY headquarters for a meeting with the rare disease community.  For many years it was impossible to gain interest in rare disorders; government and the private sector were focused on key issues such as HIV or breast cancer.  Affecting an estimated 350 million people worldwide, rare disorders are fragmented (estimated around 7,000 known disorders to date) and have struggled to be considered.  On this effort, we had the partnership of Microsoft with Takeda and EURORDIS to create the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disorder.  The goal is both simple and extremely ambitious: to accelerate the path to diagnosis.  In a developed country, it can take five years and as many as seven different physicians to arrive at a diagnosis.  The highlight of this event was not only the broad participation of patient groups from many corners of the planet, but also having in attendance important leadership from NORD, Global Genes, and EveryLife Foundation.  Here are the key recommendations from the first report. We at VOZ would love to hear your thoughts!  Can you see your company being involved in efforts of this nature? Let us know!

On the same day, Microsoft was kind enough to host the first open meeting of Rare Diseases International (RDI).  The amazing Durhane Wong-Rieger, Chair of the Council of Rare Diseases International and President & CEO of the Canadian Organization for Rare Disorders, led us across the world with presentations that covered not only multiple geographies but an introduction to the efforts with the United Nations by the NGO Committee for Rare Diseases.  My favorite presentation was by Kelly du Plessis about the efforts of Rare Diseases South Africa.  We think we have problems! Kelly and her team are struggling to work without electricity for about 12 hours of each day; nevertheless, they are doing wonders.  It was fantastic to spend time with this group, and if you visit the VOZ office, you will notice that it is now also the NYC office of RDI. We offered them an office so they could have a US presence and we are honored that they accepted our hospitality.  While we can’t offer offices to everyone we would like, if you need a place to park in NYC or to hold a small meeting, please count on us. We are centrally located on 5th Avenue and 43rd Street in midtown Manhattan.

Everyone was exhausted at this point, and despite the frozen rain and snow, it was time to head off to the beautiful home of Ambassador Agustín Santos Maraver, with the Permanent Mission of Spain to the United Nations (UN), who kindly hosted a reception in advance of the events taking place at the UN.  Making it to the reception without falling on ice was a significant challenge. Not surprisingly, the rare disease community is no stranger to obstacles and was in strong attendance. It was extremely encouraging to have the presence of Dr. Nata Menabde, Executive Director of the World Health Organizations (WHO) Office at the United Nations in New York, and representatives of permanent missions of multiple countries among us.  Everything about this event was a highlight: The warm words of Minister Counsellor Ignatio Díaz de la Guardia welcoming us; the always impeccable Yann Le Cam, CEO of EURORDIS; and the general sense of community and excitement for these new efforts.

I don’t know if anyone got any sleep because the next morning, bright and early, the team was entering the UN Headquarters in NY for the Rare Disease Day Policy Event at the United Nations (the Second High-level Event of the NGO Committee for Rare Diseases).  If you are not aware of the NGO, you can still read about the inauguration meeting here.  We were honored to participate in these efforts and thrilled by the excellent attendance.  There were a lot of special moments and clear calls for action supporting the goals of the NGO from the speakers.  You can watch the event and see the slides and photos here.

We had a small team dinner after the event and celebrated our nonstop activities.  We were exhausted but also in a haze of joy for what we have been able to accomplish as a group.  It is overwhelming to think of the breadth of the events in this last month. We at VOZ are extremely honored to be a small part of these herculean endeavors and to have the trust and guidance of the patient community as central to all our efforts.

Rare Disease Day was February 28th—how did you celebrate?  Did you notice the colors of the Empire State Building?  If you have been working in rare disorders as long as we have, I bet it was hard to process seeing our colors brightening up the New York skyline.  What comes next?

To stay up to date, follow us on our brand-new Twitter account at @VOZAdvisors. Please also check out the small video prepared by our team–it has a very special cameo appearance!  Click here.

VOZ is active in multiple therapeutic areas, from oncology, to infectious diseases, to metabolic disorders; and, of course, rare disorders.  We are working with our amazing clients to support their efforts in innovating medicines. Call or drop us a line anytime. If you are in the rare disorder space, let us know if you will be attending the World Orphan Drug Congress in DC, Ellen and I will be there and would love to say hello.

Congratulations to every voice that has supported the rare disorder community.  Special love for the ones who have guided us along the way: Abbey, Jean, Yann, Marlene, Durhane, Pat, Elizabeth, Terkel, Rich, Preston–the list goes on and it is impossible to be comprehensive enough on all the support we have received. Thank you!



PS: It is extra special to share this information with you on International Women’s Day, for two reasons. One, families impacted with a rare disorder typically need a parent to stop working to care for the child – and it is estimated that 9 out of 10 times it is the woman who takes on this role.  So rare disorders are very much an issue for women. Secondly, after a career when I was typically the only woman in the room, I am proud of the diversity of the VOZ team. We are led by remarkable women and count on a team of men and women who respect and support each other every day. We had to stand up for what is right and create this structure, but we did it, as a team, and we are stronger for it as we have the privilege of a work environment that welcomes and nurtures everyone.


Categories: Patient Advocate Policy Rare Disease

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