Andi was not correctly diagnosed with Klippel-Feil Syndrome until adulthood. By then, she had numerous spinal deformities, chronic pain, secondary generalized dystonia and spinal myoclonus. Andi is a co-founder of the KFSA, and volunteers for the Spina Bifida Association.



Emma is currently 4 years old an enjoying 2 days a week of preschool and enjoying ballet classes.  Diagnosed at just a few weeks old we have always known she had KFS.  Her KFS includes : -fused vertabrea in neck (loss of ROM) – fused vertabrea in back – exposed spinal cord in spine -scoliosis -sprengles left shoulder (loss of …



Jillian’s Klippel-Feil Syndrome was misdiagnosed by the specialists but correctly identified by her pediatrician who studied rare diseases in his spare time. She has had to deal with a Sprengel’s deformity, tethered spinal cord, delayed swallow reflex, severe food aversions, low muscle tone and joint laxity, sensory processing issues, a motor processing delay, and a speech delay.