'Happy' Rare Disease Day?

I never know what to say on Rare Disease day.  We wish each other happy birthday, and celebrate special occasions, but should we celebrate Rare Disease Day?  

It is easy to celebrate life, milestones and success, but how should we best reflect the complexities of this day. How do we properly acknowledge the children who are no longer with us, the families and caregivers who devote their lives and the researchers dedicated to solving these problems? There are more than 7,000 known rare diseases, yet fewer than 5% have a treatment.   Should we celebrate the 5%, and look forward to answering the remaining 95%, or perhaps lament the missed opportunities for innovation and answers?

Some patients are lucky. They have a diagnosis, access to treatment and a chance to live a full life. However, far too many patients are sitting at home right now searching for their symptoms online. While some eventually make it to a doctor, after thirty years of looking, far too many end up with mental health challenges. Imagine a lifetime of searching and wondering.   

1/12 have a rare disease, but most do not know what is wrong with them.  We have become experts at accepting symptoms and redefining our new normal.  It is easy to hide in the shadows and pretend that everything is ok. It is hard to advocate for change. Sometimes advocacy can be as simple as asking for another 10 minutes with your doctor to discuss a new symptom and help solve a puzzle.  It is much harder to advocate for change and access to therapy.  Unfortunately, the rare disease puzzle is complicated.  Researchers continue to innovate, and industry is bringing forward new hope at a record pace, but governments are asking to slow the rate of these inventions.  

The unprecedented speed of new product introduction comes with mixed emotion.  While some therapies are available worldwide, many patients do not have access to the latest lifesaving drug.  Limited and disappearing country rare disease frameworks and increasingly complex regulatory pathways create access barriers for hope.

I find myself in hospitals far too often, and as I connect with the rare disease community I never miss a chance to ask a patient how they are doing.  No matter the circumstance, the answer is most often positive and comes with a big smile.  

On rare disease day we celebrate the trailblazers of hope.  Happy Rare Disease Day.

Creating awareness of symptoms is so important for the under-diagnosed. These two, thirty second videos hope to empower change:

#RareDiseaseDay

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