Klippel-Feil Syndrome Awareness Day began five years ago, when a small group of people decided a specific day each year should be set aside, to help the KFS community speak out about Klippel-Feil syndrome.
The idea developed on the KFS Facebook page that I established. After a public vote, the date 8.6 was selected, because the GDF6 gene associated with KFS is located on the long arm of chromosome 8.
I did not originate the idea. However, I’ve followed through each year to provide ways for our community to get involved on August 6th.
Klippel-Feil syndrome is a rare and misunderstood condition that is estimated to affect 1 in 42,000-50,000 people. From the onset, the Facebook page provided a central place for our community to come together, learn about KFS, provide information, and advocate for ourselves, to bring forth research and improvements. Previously, our patients and families were scattered and lost.
My number one goal has been to help people affected by KFS.
On tough days, when advocating and volunteering does not go well, when questions and needs require answers that I don’t have, or when the list is too long and the path unclear, then I want to give up the whole vision. I can’t find peace with so many things unmet for our patients. On days like today, when my pain and symptoms are extreme, I ask myself, “Why bother?” I’m still figuring out my own KFS care. I wonder if it is worth it.
But I always come back to the vision, “To help people affected by KFS”.
If nothing else, if everything else fails, I hope someone has been helped.
Why? Because when KFS decided to kick my butt seven years ago, my life was thrown completely upside down. I thought I would find information, and physicians who treat KFS with compassion, and “fix” it. Then, I’d get back to my career, life and goals. Well, that’s not how KFS works. Nothing about KFS made much sense. Lack of solid information, or peers to navigate it with, left me alone in the battle. My upper body was short circuiting, the pain was beyond belief. Physicians dismissed me, while I grasped at straws on every level.
I’m a KFS patient, who has build a small place online to help our community. I’m human – far from perfect – always learning. Through it all, my eye is on the goal – to help those affected by Klippel-Feil syndrome. There is so much to be discovered about Klippel-Feil syndrome, that will improve our care for a lifetime.
I hope that others will continue in this same way, pay it forward and enrich our community. Of course there are many ways we can do that, which takes skills, knowledge and input from many, through volunteering in unity. It takes a village.
Please join me, and tell someone about Klippel-Feil syndrome, through August 6th, and beyond. Click here, to help raise Awareness this month.
Thank you to everyone who makes a special effort for KFS Awareness Day.
About the Author: Sharon Rose Nissley has several rare conditions including Klippel-Feil syndrome, Ehlers-Danlos Syndrome, Cervical Dystonia and Vasculitis. She is a patient advocate for rare disease and founded Klippel-Feil Syndrome Freedom to help those who have this rare, congenital musculoskeletal condition and their families. “I just want to help those affected by rare disease, and empower our community to dig in, learn,and ask for what we need.”
Follow her on Twitter: @Rose_of_Sharon8, @KFS_Freedom and Instagram: @Rosiegal8, @kfs_freedom
