2.28.2013

Rare Diease Day 2013


Normally I really would post anything like this, but today is about those millions of people including myself who live with a rare disease everyday of their lives.

Believe it or not, I do suffer from a very rare disease called Klippel-Feil Syndrome. It is a rare disorder defined as the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. Or in my case I have multiple fusions. I'm sure you can notice the short neck in my picture.

There are multiple associated conditions with KFS and the list is LONG, but for me a couple are fused ribs, kidney abnormalties(I only have 1) and Sprengels Deformity.

Sprengel's deformity is also a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other.


I was diagnosed at just 8 weeks old, but almost 23 years later, I don't let it get in the way of living my life or let it get in the way of me doing what I love to do. I just buckle down through the pain and difficulties, and deal with it the best I can :)


No one is perfect, and those of us who have these rare diseases are not any different, we just have a little bit more difficulty than others, and that's ok :)

So in honor of those you know who deal with these rare diseases, wear a skeleton key today as I am for myself and others!





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