I’m a tad late to the party but I could not let today pass without wishing you all a Happy Rare Disease Day!
A rare disease is a condition that impacts less than 1 and 2,000 of us.
Did you know that between 3.5-5.9% of us have a confirmed, diagnosed, rare disease? We are 1 in 2,000. Some of us are 1 in 200,000, some of us are 1 in 2 million, or 1 in 200,000 million.
There are 6,000 known rare diseases and 72% of those are caused by a genetic mutation.
Our mutation comes from the POLG1 gene. It is more common among mitochondrial deviations- it is suspected that 2% of us are running around with a POLG1 mutation and many of us don’t even know it.
Being mutated is no cause for alarm! Like all evolving beings, we all carry genetic mutations. W
e are all our own genetic X-Men. It’s when those mutations become disease-causing that things go awry. And because families share the same genetic soup, disease causing mutations can be far reaching, impacting multiple generations with devastating results.
My beautiful, rare Loves:
The crazy thing within our family is that Rare is that it has made us…….Rare.
This blended family huddles when needed. Holds each other close, rally’s, never leaves an event without saying ‘I Love You’, cries openly, and hugs a little longer.
But we will all say, resoundingly, that being rare sucks. We have endured life-changing losses, ugly cried and cursed the heavens for this sucky genetic lottery. If we are the X-Men, I’m waiting for my proverbial Wolverine.
Rare Disease Day is about families like us. Families searching a cure; collaborating, advocating, fighting for a cure. There are 300 Million of us……suddenly rare is not so rare.
To a cure.