It's Rare Disease Day!
Updated: Mar 13
Rare Disease Day is dedicated to raising awareness to the 300 million people living with rare diseases. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
This is why on this day, I usually try to share a little more about what makes us rare...the chronic pain bone condition that my sons and I live with.
We have a rare autosomal dominant disorder called Multiple Hereditary Exostoses. This chronic pain bone disorder is characterized by the development of multiple benign exostoses (bone growths). These exostoses can vary in size, location, and number. Any bone can be affected, but the most commonly affected areas seem to be the long bones (legs, arms, fingers, and toes), pelvis and shoulders. It is said to affect roughly 1 in 50,000.
This condition is painful because these exostoses can irritate and compress surrounding tissues, blood vessels, arteries, tendons, nerves, and muscles. So far, the only methods of treatment are pain management and surgeries to remove exostoses that cause additional problems with mobility and surrounding tissues.
I've had many surgeries over the span of my almost-32 years on this earth, so many that I've lost count of the actual total. My sons have each had their first surgery, too. Back in 2019, we had what I like to refer to as the "three for one deal"; all three of us ended up needing surgeries. Our specialists had to coordinate the surgeries so that I could help them recover post-op. Nolan went in on October 22, Archer went in a week later...and I went in the following month.
Two months of back to back to back surgeries...yeah, that was about as much fun as you can imagine.
But we did it! We all pulled through, and came out with some hilarious stories and memories I'll always cherish. My kids pretty much made me look like an over-dramatic chump, from how quickly they both bounced back post-op. Kids are resilient, and MHE kids are made of tough stuff.
Our family might have it's unique challenges thanks to this rare disease, but I feel that it's only made us a stronger family unit. We appreciate our good pain days more, and we know how to bunker down and get through the bad pain days.
Do you or someone you love live with a rare disease? Comment and tell me about it!
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