I was born with a congenital heart defect that went undetected for the first six months of my life.

After the diagnosis, it was determined that I needed open heart surgery to live. The surgery was performed on 7/31/75, my “second” birthday. I came home from the hospital three weeks later and insisted that my parents take me to “get a big wheel” because I was all better.

That is how I have lived the last 37 years of my life. I have played sports, had three children and done my best to ignore the stares and comments about the large scar on my chest, the scar that gave me life! I am truly grateful for everyday that I have been given.

On 12/12/12, my life was changed again when I was diagnosed with Klippel-Feil Syndrome (KFS). KFS is a rare congenital disorder that not many doctors know about. For years I was suffering from headaches and neck pain and was told by many doctors that it was “just stress.” I knew my body better than that and was not going to accept a life of pain. Although I was scared, I thought back to the day I got my big wheel and decided then and there that I had to find answers! Unfortunately, the diagnosis came with no answers.

It came to me on a folded up piece of paper from a doctor who did not want to deal with it. Instead of letting the anger and fear consume me, I am fighting for knowledge and answers. I seek this not only for myself, but for all of those who are affected by a “RARE” disease. Research and awareness are the KEY to my future, the future of those currently seeking answers and the future of generations to come.

4 thoughts on “Told by Doctors That it Was “Just Stress,” Christie Discovered She Had Klippel-Feil Syndrome”

  1. Susan Abrahamsen says:

    I am so glad you got answers finally.Thank you for sharing your story! More and more people are coming forward with KFS. Hopefully more doctors will become aware of it too. I went to a neurologist because my tongue was going numb and something was pinching in my neck when I would turn my head. After many tests, I was told to limit alcohol and exercise more. Lol. I was rear ended a few years later and found that my c4 & c5 are fused. My Father has the same fusion but didn’t know for years. We live with chronic pain without insurance and are afraid of what the future holds. I find a lot of comfort with the support group I have found.

  2. Brittany says:

    My name is Brittany, I’m 23 years old. and I have KFS. I been trying to find other people like me and trying to find a way to change it.

  3. Christie,
    God how I hope you get this comment. I suffered my entire life with bowel problems, which were misdiagnosed several times from the age of 5 forward. I also married and had two children, went to college for nursing and was very active. All that changed November 6, 2000 when I injured my back lifting a patient. I thought it was a simple as a slipped disk. What it ended up being was a form of Spina bifida called lipomylomeningocele and Tethered cord syndrome. Following multiple surgeries I have been in and out of a wheelchair twice and even though I can walk now, I am labeled and incomplete paraplegic. Over the years headaches have been almost a daily even, accompanied by horrible neck pain. Last year I insisted on an MRI. They found that C1-C2 are so close that they cannot tell if they are fused, but assume they are not since I can turn my head. C3-C4 are definitely fused, as are C5-C6. This is congenital, although no one, except maybe you, has ever given me a name or diagnosis.
    You see, like 8 million other children I am a victim of Agent Orange and more specifically Monsanto. My daddy was 101st Airborne in the most heavily sprayed areas of Vietnam from November 1969- November 1970. The problems you have mentioned makes me think that you most probably are an AO baby also. If I am right I run a FB group called Second and Third Generation Agent Orange Coalition. We would be happy to have you. God bless!

  4. I am 71 years old. Yesterday, I went to a sleep apnea doctor for the first time and found out that I’ve had Klippel-Feil Syndrome all my life and didn’t know it. This explains all of the years of neck aches and the inability to conjure up the energy that everyone else seemed to have. I got this diagnosis less than 24 hours, so I’m still reeling with it.

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