Rare Disease

This is the face of very exhausted but very proud and excited Rare Disease Patient Advocacy Leader who just checked off another box and graduated today from a class about Rare Disease Research in Europe.

I reluctantly dragged my feet on participating in the Rare Disease community.   Congenital Diaphragmatic Hernia is a birth defect, not a disease.  At 1 in 2500, I consider it fairly common though it is medically classified as rare.

I was wrong.

I wish we had worked with the Rare Disease community 20 years sooner.  We would be so much farther as this community is a wealth of knowledge and wisdom that would've taught and support us rather than us blazing a trail on our own, stumbling along the way.

I started working with Rare Disease organizations about 5 years ago, to better learn how to lobby for CDH research and awareness.  The first time that I went to Washington DC and met with people from NORD and RDLA and Global Genes... oh my goodness!   I found my people!   Other charity leaders bumbling around too who were happy to pull each other up and show others the rope.

This is what we were missing all those years.

I could slap myself for waiting so long.

How far I have come as a more polished Patient Advocate and Public Speaker in the past 5 years.   

We joined the National Organization of Rare Disorders (NORD), Global Genes, EURORDIS (European Rare Diseases), Rare Diseases International, many others for individual countries and 4 years ago, I was a founding member of the Rare Advocacy Movement.  Now, after leaving RAM when the mission changed, I am a founding member of a new Rare Advocacy partnership and another Rare Disease partnership.   

I am the Congenital Anomalies liaison for KidsFirst Database for Rare Diseases at NIH.  I was nominated for a RARE Champion of Hope award in 2019.  I spoke at Global Genes in 2018, teaching others how to start Rare Disease nonprofits.   I convinced a large international conference to bring in Rare Disease Advocates.   I've led panels, given speeches, held round tables at Rare Disease events.  I was in the inaugural class of Patients Rising and am a graduate of the University of Zurich Genetics Summer School.  

I have made great connections and friends who have invited me to speak at their events and spoken at my charity also.

I've done more not yet public.

I have jumped headfirst into the Rare Disease Community and I am so grateful to represent Congenital Diaphragmatic Hernia among such amazing and collaborative people.

Today, I finished up the last day of the EURORDIS Summer School (which with the time difference meant I was starting school at 3:00 am daily).  Tonight is the beginning of NORD's annual conference.  

I have met the most extraordinary people.  

And my kids have gained the most extraordinary opportunities because of them.

Community is what is all about and collaboration is what we all need.