Reflections on Rare Disease Week 2015

Rare Disease infographic - Global Genes 2015 thumbnail Today, February 28th, is Rare Disease Day (actually RDD is the 29th – but we don’t have one of those this year!).

Today we celebrate and recognize the 1 in 10 of us that have one of the 7,000+ rare diseases … over 30 million here in the US and 350M worldwide, what would be the world’s 3rd largest country (more populated than the US) if we all lived in one place.  Less than 5% of the diseases have a formal therapy, over 50% of the diseases affect children, and 30% of those children will not live past the age of 5. In a world where doctors hear hooves and see horses, we are all zebras.  A good infographic about Rare disease can be found here.

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Recognizing this, MLD Foundation, both Teryn and I, spent the week in Washington DC for Rare Disease Week.  I wanted to share some reflections and highlights of our week with you.

On the lighter side, we joined with others at the Carnegie Institute of Science for a reception and a screening of the film RARE.  It was a time to catch up with many friends we have come to know through our work over the years … and to meet many more new advocates.  There was a preview screening of a film called Banner on the Moon.

The social highlight of the week was not watching films, it was the RAREARTIST reception RareArtist 2015 - Therapy Dog - 13 yr Cody Spader RareArtist 2015 Puppy Power Tegan Skye 9 yr Chordoma Thursday evening. I was able to talk to three of the artists.  13-year-old Cody Spader’s Therapy Dog shares his journey through surgery for complex seizures.  9-year-old Tegan Skye was dressed in a cute light blue dress and when I approached her to ask about her picture as the event started she was uncertain what to say … but once she became comfortable I learned that her father has Chordoma and needed to travel several thousand miles for specialized surgery.  Their family dog had always comforted dad at home by laying in his lap, but the dog could not travel to the hospital.  Little Tegan was very concerned that her dad be comforted so she drew this picture for her dad to put up in his hospital room while he recovered.  Hearing her tell this story not only brought a tear to my eye, but it also reminded me that no family member is every un-affected by rare disease.

On the business side of things, I was asked back for the second year to be the Moderator and Host for some 250 advocates from all 50 states at RDLA’s all-day Legislative Conference.  My job, besides keeping the event logistics running and on time (after 8 hours of sessions we ended just 90 seconds late), was my responsibility to welcome, include, educate, and engage the advocates so they had everything they needed to be powerful advocates during their Capitol Hill meetings the next day.  My brief motivational kick off talk, What Do You See, was based on the idea that what others see in us is not the inadequacies we see when we look into the mirror.  The advocates in that room needed to know they were leaders and perfectly capable of representing their specific disease communities, and when we divided 30 million Americans across each of them they were actually representing about a quarter of a million each!  We spent the day learning from and interacting from panelists which include legislative aides and a chief of staff from the Hill, advocacy leaders, lobbying firms, and many more.

In amongst some 1200 researchers at the LDN/WORLD meeting on Lysosomal Storage Diseases a couple of weeks earlier we met a Pennsylvania mother with a child with a rare disease.  She was passionate about learning about the research and supporting families with her daughter’s form of MPS.  After several conversations over the course of a couple of days at that meeting, we invited her to DC to share some of her passion with her federal representatives.  Registration was closed but we got her a place and onto the Hill day schedules.  She wrote me a quick note of appreciation yesterday – I was so thrilled she was engaged, connected and now not alone!  She joined the over 50% of the advocates at the conference who were 1st timers on the Hill.

On Wednesday we all put on our red RDLA scarfs and headed to meetings with our Congressmen and Congresswomen.   In between meetings we generally had to do a lot of walking to get between offices and across the Capitol from the House office buildings to the Senate office buildings. We saw dozens of other red-scarved Rare Disease advocates heading opposite directions.  The feedback from Advocates was about positive engagements as they discussed the 21st Century Cures Initiative, CURE (Compassionate Use), OPEN Act (Orphan Products), and Dormant Products /MODDERN (repurposing drugs).  I can’t count the number of times we were stopped as advocates, 1st timers and returning “old” friends mentioned how empowered and productive they were being … all for all of you!

We finished the week with an all day meeting on Friday at the NIH. We heard from Francis Collins, Director of the NIH and a huge fan of Rare Diseases, the FDA, NCATS, and a very interesting panel of creative patient-advocates turned science-advocates including Jill Wood of Jonah’s Just Begun/Phoenix Nest, Matt Might of NGLY1.org, and Barbara Handelin of BioPontis Alliance.  Discussions included basic science, policy, funding, biotech start-ups, novel collaborations, clinical trials, newborn screening, identifying undiagnosed and mis-diagnosed rare disease patients, and much more.

We are humbled to be able to represent you as participants and leaders in Washington DC, and around the world.  Personally, our passion is always driven by MLD, but we know that a rising Rare Disease ocean benefits all diseases, including MLD.

You are special, you are RARE, but RARE is not rare, and you are not alone!

Have a good day.

Butterfly Hugs!