On April 16, 2016, the Running4Rare team came together for the first time as an independent entity working with the National Organization for Rare Disorders (NORD) and the Undiagnosed Diseases Network (UDN). Â It was a very special evening for all who attended. Â I kicked off the event by sharing an analogy of a seesaw and how,Â as a corporate based initiative, the fulcrum (pivot-point) of the seesaw is fixed, limiting the power transmitted by the the seesaw.
I then told the story of theÂ 2015 experiment and how the Running4Rare program had essentially outgrown the corporate sponsored initiative which has been in placeÂ since its founding in 2008. Â Today we are no longer a corporate program, a gift that has unfixed the fulcrum from the center of the seesaw (the lever), enabling Running4Rare to move the fulcrum to increase the power or difference we are making on behalf of the greater Â rare disease community.
As we have 33 rare disease communities represented on the 2016 team, we were fortunate to have 13 of those communities in attendanceÂ and each was introduced accordingly. Â The last community introduced was our 2nd speaker, 3rd year team memberÂ Shauna Sperou, representing the Rothmund Thomson Syndrome (RTS) community.
Following the standing ovation given to 11 year old Shauna, I apologized 🙂 to all the remaining speakers for having to follow her. Â 2nd year team member, Kelly De Angelis, Â the mother of Steven (aka Bug and Super S), and representing the Muckle-Wells community, gave a fantastic speech about living with a child with a rare disease and as she put it…”Parenting on Steroids“.
The next speaker was 2nd year team member Jen Melanson, representing the Hypoparathyroidism community. Â Jen shared her personal story of transitioning from a RARE community partner to a running team member and what she learned about the meaning of ‘Partnership’.
Richard Maas,Â the Division Chief for the Division of Genetics at Brigham and Womenâ€™s Hospital, (Brigham and Womenâ€™s Hospital, with MassGeneral and Boston Childrenâ€™s Hospital make up the Harvard UDN Clinical Site), gives his perspective on partnership and provides a wonderful background for the UDN and the collaborative and transformative approach toÂ diagnosing rare diseases.
Our final speakers were Kim Splinter, Genetic Counselor and Clinical Project Manager at the UDN Coordinating Center and Peter Saltonstall,Â President and CEO of NORD. Â Kim provides a thoughtfulÂ perspectiveÂ of the ‘journey to a diagnosis’ Â and Peter adds some thoughts on the unmet need of 7000 rare disease communities and only ~500 therapies. Â He also graciously speaks of NORD’s commitment for continued support of Running4Rare going forward with a challenge to double the team size in 2017.
Thank you to speakers, Shauna, Kelly, Jen, Richard, Kim and Peter and to all who were involved in the planning of this wonderful coming together of the Running4Rare community, namely Paul, Carrie, Anne, Ed, Kai, UDN Partners, NORD Partners and the members of the Running4Rare team.
What a great night this was!
I just love hearing about the much appreciated community NORD provides for my friend and her family, and friends. Just hearing about what you do inspires so much good will in me.