Klippel Feil awareness

August 6 was national Klippel Feil awareness day. It is a very rare skeletal disease that has no cure. I want to take part in spreading awareness. One of our Delta community members is personally affected by this. My daughter was just diagnosed six weeks ago with Klippel Feil syndrome (KFS) and I would like to be open and honest about what it is we are dealing with and educate others on this syndrome.

Here is a little information about my daughter; Kymber is a 13-year-old young woman. She has lived a normal life. She was born at 33 weeks and stayed in the hospital for only 10 days. At her birth she was diagnosed with a hemivertebrae, or a half of a vertebrae in her neck and one in her spine. We were told she may end up with scoliosis later. 

We have long noticed she had limited neck movement, but it didn't really affect her lifestyle, so we were not too worried. In the last few months though, we noticed that it was even more limited. She physically cannot do some of the things she should be able to at her age. 

We took her to Interior Alaska Medical Clinic and they decided to do some x-rays. I knew right away something was off, and John Fraley was good to have me look at the pictures. Even to my untrained eye it was visible there were issues. From there we were sent in for MRI imagining. What we found was that Kymber was born with a congenitally fused neck.

There are seven vertebrae in the cervical spine. Kymber’s C2-C6 are completely fused, except for the part where her half vertebrae is. She is missing half of that vertebrae and her neck appears to be broken on imaging. KFS is when only two vertebrae are fused together. My daughter has at least four fused, and they require further imaging to see if she even has a C7 vertebrae. If she does, it is so fused that they cannot see it on the MRI. She also has a hemi at T6 by her shoulder blades. The two hemis have caused a mild case of scoliosis so far. She is also completely missing three ribs! She was born without them. She is missing two on her left-hand side and one on her right. KFS is a skeletal disease and hers has affected her whole cervical spine, part of her thoracic spine, and her ribs. She also has a condition called Sprengels deformity. Sprengels means she also has uneven shoulders. One shoulder is higher and longer than the other. 

The thing about my girl is, she is a trooper. She has taken all of this in such a good manner. She has been told she can never again jump on a trampoline, she may not be able to play sports, she is at risk of causing much more damage if she hits her head. She could be paralyzed, loose feeling in some nerves, etc. She was told for a while she could not run, ride a bike, ride a 4-wheeler, rough house with her brothers, etc. We are working with a specialist in the Lower 48 to get more information about what her life will look like and whether or not she needs surgery or other corrective measures. 

If you would like to know more or have any questions, please reach out to me at any time.

Thank you for helping me to spread awareness of this very rare syndrome!

Holly Wrigley