Kickin’ Fightin’ and Strong: Klippel-Feil Syndrome and Me

I was diagnosed with Klippel-Feil Syndrome (KFS) shortly before my first birthday. At birth I had the ‘classic’ triad of symptoms: short neck, low hairline and limited movement of the neck. I also had various other anomalies associated with KFS, including a missing right thumb with fused or missing radius of right forearm; facial asymmetry/torticollis, right ear deafness, clicking hip, dextrocardia and, from the age of 10, scoliosis. As a child, KFS was not part of my life. I was aware of my difference to other kids but nothing stopped me enjoying a happy childhood. As I grew older, I was bullied – name calling mainly, but I took it on the chin and never let anyone see me upset because of it. Due to the scoliosis I was referred to the local children’s hospital and began 6 years of bi-annual visits for X-rays and tests which included an ECG, and a lung capacity test. I only ever saw Orthopaedic consultants and despite the curve worsening over the years, there was never any treatment used, such as traction or brace which were available at the time. After a whiplash injury I suffered severe pain and spasms in my neck and was offered a course of acupuncture which certainly helped with my knotted muscles. From about the age of 35, (I am now 46) I have been experiencing more pain and grating in my neck and back and am (currently) awaiting an appointment for an MRI scan due to increasing numbness in the fingers of my left hand. I would advise anyone who is concerned to read about this condition and to push their GP’s/Consultants/PT’s as the presentations of KFS can be extremely varied. Even today, many doctors still believe in the ‘classic’ triad as the only KFS diagnosis. This is not the case, as we know that many go through to adult years before being diagnosed.