Today, February 28 is Rare Disease Day. It's a day to raise awareness about rare disorders worldwide.
A disease/disorder/syndrome can be considered rare if the number of people it affects is less than 200, 000. With a current estimate of around less than 1000 known cases worldwide, Joubert Syndrome is definitely rare.
Joubert syndrome is a rare genetic disorder, characterized by a wide variety of symptoms and traits. While many symptoms of the syndrome are common to everyone, each person is different. This is why it is so important to focus on the similarities, and I feel it applies to any rare disorder.
Since being diagnosed with Joubert 2.5 years ago, I've seen and met families and kids dealing with issues I cannot even begin to relate to. However, I have also found many, sometimes humorous, commonalities. I will never know what it is like to be partially blind or need the use of a wheelchair, and I still do not know what a ciliopathy is, but I can appreciate things like a teenager's need for privacy or their love of accessible summer camps, a boy's obsession with superheroes, or even a family that says pop instead of soda.
So, on this day, instead of focusing on the big things that divide us, appreciate the little things that we all have in common.
My son was diagnosed 2011. He Iis awesome never gives up. Superheroes is his thing!!! He dances, skis and wheels round like a F1 driver. I blog too :)
ReplyDeleteMy son turned 4 on December 31, 2013 and was just diagnosed in January.. Although we are new to this I enjoy reading other's stories and learning more! Thank you for sharing!!
ReplyDeleteThank you for writing this blog. I bristled every time I heard "rare" disease day.
ReplyDelete"branding" anything so complicated. I'm agnostic, so I have never found the comfort others have, in religious interpretations of the meaning of having a child with Joubert. I have 2 adults children with Joubert, one is cognitively delayed, with no physical symptoms, the other intellectually gifted with multiple severe medical, mobility issues. And, so at your suggestion, I will focus what we have in common....the heartbreak of it all, and our relentless loyalty to our children, no matter what, and a compassion, whose depth cannot be defined.