What does it mean to be Rare?
We have one extra day in February this year! One more day to be with your family. One more day to catch up on that list that keeps nagging you. Another day just to be.
And a day to rally around Rare Disease Day! Rare Disease Day falls on the last day of February; this year a leap day, making the day even more special.
Ironically, us rare folks aren’t so very rare. 1 in 20 of us will be diagnosed with a rare disease in our lifetime. But when you have a genetic mutation shared by 1 in 400,000 in the world, you can feel pretty alone.
One voice in 400,000 is not very loud. But one voice in twenty can create quite a ruckus. Rare Disease Day focuses on that ruckus, focusing on the 300 MM of us with a Rare Disease diagnosis or affiliation to that disease. We represent 6,000 identified diseases. 72% of these diseases are genetic and 70% of these diseases start in childhood.
Rare is defined when 1 in 2,000 are impacted.
Mitochondrial Disease is a rare disease. We will be sounding our YOPP in the next couple weeks- letting the world know that we are not so rare.
What does our YOPP entail?
The rare disease community has several asks and many of them focus around access to scientific knowledge and quality information. Misdiagnosis or delays in diagnosis are life limiting. Since so many of these diseases are identified in childhood, pediatricians need to know when to refer families for genetic testing or to a specialist that can manage complex medical care.
Better counseling and access to newborn screening. Newborn screening saves lives! It is one of our greatest medical advancements. We need to talk to families about this process not in the context of fear, that something could be wrong with their beautiful baby but around good pediatric, preventative care.
I will be in DC the week of February 24th– talking about my family and the families we represent. I am so very honored to do so. Rare can be terrifying. It’s good to know we are not alone.