Klippel Feil Syndrome

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Many of you that know us have heard me talk about Mattie’s health a good bit. Those of you that are new to our world will get to hear all about it. It is actually kind of an issue for me. I probably talk about it too much. Part of me just feels the need to educate people about KFS, and a lot of you just get used for therapy. 😛

Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

Mattie has had a total of 10 surgeries to date. She has had coccyx removal/reshape, tubes in her ears three times, a tendon transfer and muscles moved in her right hand, a spinal fusion from her occipital bone to cervical vertebrae 6, she also wore a halo for almost 7 months with the fusion surgery, she had implants put into the urethras to help with kidney reflux, and had a BAHA hearing implant.

She is a pretty amazing kid and puts up with a lot. I often wonder if her positive spirit comes from having to deal with so much for so long, or if she would have been like this with out kfs. She has what we call Orange and Gray days. If it is an orange day Mattie can be found wearing orange or pink from head to toe and smiling ear to ear. Orange days consist of no pain and hold lots and lots of joy. Gray days usually mean she is tired or that something hurts. Steve and I coined them gray days based on the lovely color of gray that she turns on these days. It is kind of like someone took that orange light of hers and turned it off.

Please feel free to ask me any questions you have about the syndrome.  It is not something that we try to keep private. I would much rather people have the real information than to make assumptions that may or may not be true.

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13 thoughts on “Klippel Feil Syndrome

    Tanja said:
    June 25, 2009 at 4:08 pm

    Hi Shelly,

    I like your blog. The KFS explanation is really good (much better than what I threw together). Hopefully you will introduce us to your other two kids soon, I’m really curious now. 🙂

    I saw that you are home schooling your kids. Maybe you could also tell us a little bit more about how that works?! Maybe this is totally clear for people living in the US, here in Germany I don’t think it’s possible to home school at all. As far as I know parents have to found their own tiny little school and hire a certified teacher/teachers if they don’t want to send their kids to an existing school. This concept of teaching your kids at home seems very interesting to me. Do you teach them all the way up to graduation? And how do you manage to teach three kids of different ages at the same time?

    Love

    Tanja

    PS: If you like we can exchange backlinks.

    My Crew « Shellyplus4's Blog said:
    June 25, 2009 at 11:58 pm

    […] Mattie –  is the embodiment of joy. She can walk into a room of strangers and come out with 5 best friends. She has been playing piano for3 years and continues to amaze us.  Mattie is 9 years old and going into the 4th grade.  She is the daredevil in our crew, and lives to scare the heck out of her parents. […]

    VJ said:
    June 26, 2009 at 12:48 am

    Hi Shelly,

    Awesome blog. Great to meet your family too. Thanks for posting this info about KFS. I’ll be sure to forward this link to the peepul I know.

    Say “hi” to your kids from me.

    … keep smiling, keep shining …

    Corrie said:
    July 2, 2009 at 10:19 pm

    Hi Shelly,
    I just found your blog via the BAHA yahoo group. My daughter is 4.5 and scheduled for BAHA surgery on August 7. I saw that your daughter also had BAHA surgery and that you actually live very close to where we live. We are in Lawrenceville, GA. I have been trying to no avail to meet a parent whose child has gone through BAHA surgery in our area, and so I am very happy to have found you. I would love to ask you some questions about who did your daughter’s surgery, etc. and if you know of other kids in this area that have gone through the BAHA surgery, as well as how this has helped your daughter! Your daughter is a real trooper, and I believe from our experience with our daughter that the things that they go through mold them into who they are. It just goes to prove that God can use anyone, no matter what they have gone through to bring joy into someone else life and to honor and glorify Him. Even when we think He made a mistake…. He never will! Anyways, if you would be willing to answer some questions, could you e-mail me, please?

      shellyplus4 responded:
      July 2, 2009 at 10:29 pm

      Corrie- I sent you a private email. I look forward to talking with you.

    Vicki said:
    July 29, 2009 at 3:12 pm

    HI, Thanks for posting! My son has congenital scoliosis in his upper thoracic and cervial spine. He has quite the head tilt due to the scoliosis which was at first thought to just be torticollis.

    I am still in the stages of some preliminary testing however what I have learned so far is it is too risky to do any surgery with it being in his neck.

    Could you provide any further information as far as your daughter’s surgery?

    Thank you so much!

      shellyplus4 responded:
      July 29, 2009 at 3:21 pm

      Hello Vicki,

      My daughter’s main curve was also in her neck. She had surgery to correct it 5 years ago. They used a piece of hip bone, a metal plate, and 6 screws to fuse her neck. We travel a couple of times a year to Philadelphia to see Dr. Betz at the Shriner’s hospital.

      I am not sure what your situation is, but surgery in the neck is a possibility. I would be happy to talk to you about it more.

      Shelly

    Amanda said:
    October 12, 2009 at 1:19 pm

    Shelly,
    I am very interested in the walk for hearing that you guys just did. That sounds awesome. I looked it up and found info about one in my area (AL). I’d love to participate next year.
    My son is 6 and has bilateral atresia and wears the BAHA attached to his cap. He has had it since he was about 4 mos old. He has 18q- syndrome. I would also like to know who did the surgery for Mattie and what kind of experience you had. If you could send me an email about this that would be wonderful!

      shellyplus4 responded:
      October 26, 2009 at 2:02 pm

      Amanda,

      The walk was great! I will be posting more pictures and typing something up about it soon. Keep an eye on the blog for more info.
      Mattie had her surgery done at Children’s Health Care of Atlanta. Dr. Brian Herrmann is her ENT. He did an amazing job! I do not have enough kind words to say about him. I have pictures of out entire experience if you are interested in seeing them.

      Shelly

    crystal said:
    January 11, 2012 at 8:35 pm

    Hi,
    My daughter is 8 and diagnosed with KFS several years ago. I’ve been looking online for information but little is to be found. Would love to chat with you about your daughter’s journey with KFS.
    Crystal

      shellyplus4 responded:
      January 11, 2012 at 8:57 pm

      Crystal,

      I’d be glad to chat anytime. Email me @ ShellyPlus4@gmail.com. I’d be happy to chat in email or give you a call. Have a great night.
      Shelly

    Allison said:
    January 27, 2012 at 10:03 pm

    My son is 20 months old and along with several congenital anomalies, he has also been diagnosed with KFS. I am doing all I can to find the right people to help him and get financial help, but its a really tough journey. Love and prayers to anyone who is on this path as well.

    Whitney said:
    September 27, 2012 at 12:59 pm

    Hi Shelly I know this is and old post but I thought I’d ask anyways. My son is ten month old and I’ve been noticing that he has no neck- well it’s very short he also has a low hairline but his heart is fine and there are no other symptoms that I can see. Do you think he could have kfs?

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