Did you know that approximately 50% of rare diseases do not have foundations supporting them or working to find treatments or cures? Have you ever thought about starting a Facebook Group for your rare disease?

Meet Sharon Rose Nissley. Sharon Rose or “Rosie” suffers from Klippel Feil Syndrome, a rare congenital disease that causes fusion of two or more of the cervical vertebrae in the neck.

Despite battling her illness, Sharon Rose launched the Klippel Feil Syndrome Alliance on Facebook last month in June. Patients and families dealing with KFS have not had a central place to refer to on a nationwide basis – now they do with the KFS Alliance.

General Information on KFS

KFS is a rare skeletal condition in which there is abnormal union or fusion (congenital synostosis) of two or more bones of the spinal column (vertebrae) within the neck. The spinal column or backbone is made up of 33 irregularly-shaped bones known as vertebrae. These bones are divided into different categories. The first seven vertebrae, beginning at the base of the skull, are known as the cervical vertebrae. KFS primarily affects the cervical vertebrae.

Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). The disorder is present at birth (congenital), but cases may go undiagnosed until later during life when symptoms worsen or first become apparent.

In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities. These may include abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida occulta, raised scapula (Sprengel’s deformity), absent rib(s) and other rib defects including cervical ribs, other skeletal abnormalities including skeletal malformations of the ear, nose, mouth and larynx including hearing impairment and cleft palate, malformations of the head and facial (craniofacial) area; anomalies of the urinary tract and/or kidney including absent or horse-shoe kidney; or structural abnormalities of the heart (congenital heart defects), mirror movements, webbing of the digits and digital hypoplasia.

In addition, in some cases, neurological complications may result due to associated spinal cord injury.

Sharon Shares Her Story

As a 41-year old patient with the congenital rare disease Klippel-Feil Syndrome (KFS), pain is a normal part of every moment, every day.  Because everyone with this disease has different portions of their cervical spine (neck) fused together, we have different symptoms.

I was not diagnosed until the age of thirty-eight; yet, after having several knee surgeries as a child, due to deformed knee joints, the diagnosis made sense to me. I was told by my orthopedic specialist,  “KFS is not the diagnosis you want.”

I thought, eh, we can figure this out. In our day and age, where we have access to treatments, ways of fixing things, and most assuredly there would be ways to alleviate pain, I will eventually get back to normal.

I was wrong. After seeing countless Neurologists and Neurosurgeons, and overnight stays in the hospital for pain, the only advocate I currently have maintained by my side, is a board certified Headache Doctor. I take medications for nerve pain, but the pain persists throughout my upper body, as well as other neurological symptoms that make every day a roller coaster.

Like many of us with KFS, I have exhausted all research outlets on-line and attend my physician appointments, organized and ready to advocate on my behalf. But most times, my research efforts come up empty. In addition to the Facebook Klippel-Feil Syndrome group, I co-lead a KFS group on MDJunction. In the past months, many patients and families have continued to bring up ideas surrounding the need for more research, lack of and need for additional, available treatments.

This congenital disease affects people of all ages. We are unknown, and we suffer.

The Plan for Klippel-Feil Syndrome

A few KFS patients, families and friends, including two moms in the medical field, have worked together to initiate the Klippel-Feil Syndrome Alliance with non-profit status.

We are just beginning. We are aligning ourselves and gathering patients and families. Many have stepped forward who have similar stories. We are all in this together, with hopes of becoming more recognized within the medical community as well as in the general public.

Funding and research is critical. The Klippel-Feil Syndrome Alliance is focused on research and improving the care and treatment of KFS from birth through adulthood. Alliance is key.

Please take a moment to ‘like’ us on Facebook, or follow us on Twitter, @KFSalliance .  We look forward to seeing you there.

Sharon Nissley

34 thoughts on “Klippel Feil Syndrome Alliance Launched By KFS Patient Advocate”

  1. Heather what a great job you did on this article for Sharon. Kodos Sharon. Stand up for an ovation. Job well done. You have only just begun but I have all the faith in you that you will fulfill you passion and purpose.

    We are strong together. What we learn we quickly share within our rare community.

    Marianne/laughingnana

  2. linda blacker says:

    Hi there,i knew all my life the i was different from my twin but only found out what it was called in my twenties thinking it wont bother me how wrong was i. At the grand age of 49 i now have had surgery for carpal tunnel on both hands,both elbows the nerve was put back on my funny bone and now the pain in my neck,shoulders,spine and everywhere else is having a party. Now on various medications and waiting to see a spinal surgeon. I find it a great blessing that i found a support group. Most may be very far away but i know i can open my laptop and help and advice will be there. Unfortunately i have not come accross anyone closer to home. The north of ireland.

    Linda b.

  3. Annette Angelo says:

    I called the Job Accommodation Network and was told that there aren’t any accommodations for KFS so I should look up accommodations for fibromyalgia (which I don’t have). Does anybody have any suggestions?

  4. Hi Annette! I will have someone with KFS and Global Genes Team get in touch with you! Take Care!

    – The Global Genes Team

  5. angie maddox says:

    Just diagnosed in March. Thank you for support and info helpful.

  6. Kathy says:

    My son 40 was diagnosed a year ago my dad was at the Manhattan project…has anyone related exposure to toxins as a cause

  7. shian says:

    My name is shian I have a 7 year old son with kleppel feil and sprengles anomaly he was diagnosed before birth when I saw this site icried I thought he was one of the only people and I don’t know what to expect for his growth and life and just to know there are other people out there who care brings joy to my heart

  8. Frank Lynch says:

    My 11 year old daughter has KFS. This time last year her daily headaches began she was diagnosed with chiari malformation and during surgery it was confirmed her first
    two vertebrae in the head and neck that were fused. We to have gone through the gauntlet of doctors that don’t have answers. We found success with her headaches using “Neurontin” for about six months but I fear she has developed a tolerance to it because the headaches are back just not in the same area that she had decompression surgery back and even increasing the doses doesn’t seem to help. I fear now that she’s entering adolescence physical changes will exacerbate the situation. I am trying to find a specialist that has experience with this stuation and can help us with pain management.

  9. Sherry says:

    Hi!! My 21 yr old daughter has suffered with severe neck pain from the age of 17. After many hospital visits we found out that vertabre’s 1-7 r fuzed on the left side of her neck and 2 of them are half vertabre’s. When she was born she had no metacarpal bone in her left hand and a extra digit on her right hand. She has seen countless specialists about her neck pain. Nothing helps!! She is currently on morphine patches for pain and 3 anti depressants. I was searching online for answers when I came across the KFS website and I couldn’t believe what I was reading, all of a sudden everything made sense. Can someone tell me how we go about getting her formally diagnosed please?? I know this is not going to be easy for her but it’s a start to finding answers. Thank you sincerely, Sherry

  10. Rosemary Baxter says:

    Is this a UK support group for KFS, please? I tried Googling it, and this site came up. Is it a Facebook page? Is there any way I can be on it and stay anonymous? I don’t want friends and family to know I have KFS, so privacy is important, as I’m sure it is to most people!

  11. Claudette Fleming says:

    I am 76 years old. I was born with KFS. Diagnosed by a chiropractic doctor in Florida 2 years ago. I have all the symptoms mentioned in the articles I have read. I also have Fibromyalgia…which my mother had as well. On April 14th this year of 2015, I have had a pig valve inserted in a failing aorta. I believe this is also congenital, as I had a 49 year old brother who had the surgery done as well. I’ve had a long life of pain and tolerate it with as much as I can. my primary use of drugs, which there are many, because of these conditions, plus more…are continuing. It’s a lifetime struggle, but I do what I can…and keep researching ways to cope. I go to chiropractors on a regular format…they’ve helped give me more range of motion in my neck..i.e. 5% on 1st seeing me to a whopping 30% now. They have changed my life for the better. Also, I use a massage therapist, and practitioner on a regular basis, to help muscle, nerves and flexibility in control. You can live a long successful life, and have a career. You just have to keep looking for what can help you. Of course, cost is sometimes and issue. Fortunately, now that I am older, I still have the resources to pay for these medical specialists.

  12. Kenneth says:

    Greetings to group. My name is Kenneth. I have KFS c1 to c4. I am 69 yrs. old and still active. My parents took me to Mayo Clinic when I was 3 or 4 yrs old. At that time surgeons would not touch me. I was under chiropractic care for most of my life to help with nerve pain and numbness. (chiropractic care may not be good for all KFS.)
    I am married with three healthy children and I have a healthy grand child
    I have worked in construction most of my life for local telephone company. In 2000 I started having more pain and numbness. I had MRI done and surgery was the only answer. I went to Doctor William Rambo in Lexington /Columbia SC. On 09/10/2001, the day before 911,he did fusion with rods from skull c1 though c4. Surgery was a success.
    I have had little pain from that time till now. Of course some nerve pain is there but its minor compared to before surgery. KFS may have slowed me down at times but I have not stopped.
    Its easy to feel sorry for self for getting funny looks because of being different but people learn in time to look at the person. I wish any who are dealing with KFS can find answers on how to cope and get relief.

  13. Tracey says:

    Hello, thank you in advance for reading this. Our chiropractor found a congenital fusion of C2-C3 in our 7 year old. I called our Ped dr, and she said not to worry about it, no big deal. But after looking at a few sites online, I found info about KFS. I’m still trying to understand what it all means. Does she have KFS because of the fusion? Who do I contact? Is my Ped dr correct is saying leave it alone? I’m confused by the chiropractor, online, and Ped dr……. Seems like the info is not matching up, which leads me to uncertainty. Thank you,

  14. Tanya says:

    They have just discovered a c2/c3 fusion in my 13 year old daughter’s neck. The doctor thinks she was born that way. I can’t help you at all, except to let you know you are not alone with your concerns. I don’t know where to go from here. She has severe nerve pain in her upper back on one side which led to a full spinal x-Ray which showed us this. A week and a half until her MRI. Maybe that will give us more answers.

  15. Tracey says:

    Sorry to hear you are in the same boat. Maybe together we can help each other. Please let me know what the next step you are taking. Why are they doing an MRI? No one suggested that for us. They actually said to not worry and move on. That response is not settling well for me

  16. Carol says:

    Hi, I don’t know if this is an active post, but I recently went to the Dr bc of a constant mild H/A for months and a feeling of like I am moving an inch when I know I didn’t move. She did a CT and found I have basilar invagination from atlantoaxial instability. Iv’e known I had a congenital fusion of C1-2 for quite some time but was told it is nothing. I was also born with a cleft palate. Looking up the symptoms of KFS, I think it is possible I have a mild case of it bc I have other symptoms but they are no big deal. I have had mild to moderate occiput pain for the past 21 yrs which has been treated with chiropractic (which I can no longer due due to the spinal cord being pressed on) and massage. The insignificant symptoms are: TMJ, one Mildly elf-like ear, M shaped posterior hairline, low front hairline and a small mouth. More recently I am having burning feeling below neck, and had a complete day of ringing in one ear and buzzing in the other all the while my head felt full and pressure like it was under water. Any suggestions on finding a doctor who will know and understand this condition and the best treatment plan for my situation.

  17. Maria says:

    Hi, I was diagonised with KFS at 54. Like Kenneth, I have lived a normal live. I have two boys. I have pain on my neck but thought this was due to scoliosis. I have always managed, provided I don’t carry any weight. One night I woke up with my right arm paralysed. I told my doctor who sent me for an MRI of the neck. He then referred me to a neurosurgeon. I have had a spinal block done to C6-C7 and this helped and am due to repeat same. The neurosurgeon I am seeing is known as the best in South Africa. We are trying to delay surgery – my arms and hands go numb but it’s still manageable. Pain is manageable- what concerns me is numbness. Reading Kenneth’s comments gave me hope.

  18. Joyce says:

    Hi. I was diagnosed with Klippel Feil at the age of 61. I had always had some trouble with my neck but it didn’t give me a lot of trouble until about 5 years ago. It took 3 years before a neurosurgeon diagnosed it with an MRI. I’m not sure what to do next. What is the best type of doctor to go to? I have limited mobility when I turn my head. Does anyone know of a physician who works with Klippel Feil in the New York City area? Than you

  19. Joanne haley says:

    Hi my name is Joanne I am so glad I found this site I was diagnosed 4yrs ago.with occult and i only found out I had klippel feil as it was written on the Mri report i had a laminectomydue to stenosis.ihave weakness on the right side of my body I am losing my hearin and now I have tremors which has changed everything when I read sites one says klippel feil sufferers don’t have tremors and another one says it is a symptom. I work in a job where a use a computer all day I cannot touch type and I need to know if this is causing me to detiorate so fast

  20. Daniel Maclean says:

    Hi im dan… im 29 year old… i have a clept lip… its hardly noticeable… and I think i have a kfs.. well i do have a shorter neck but i dont get any of the systems yous talk about… i hit the gym alot to its never affected that… i can rotate my head up and down side to side to

  21. prerna says:

    i am from india , i am 20 .I am not having any physical problem but the mental torture i go through is unbearable when people make fun of me,copy me,laugh at me,make me so disturb that i feel it a curse’ I AM TREATED LIKE A ALIEN’ I CANT FACE THE OUTER PEOPLE,i dont want even to go outside my home due to this .my confidence, my carrer,my life every thing afected by this.I FEEL ASHAMED FACING NEW PEOPLE. I JUST WANT TO BE LOCKED IN A ROOM,WHERE NO ONE CAN SEE ME

  22. Mary Beth OConnell says:

    Hi I am 54 years old woman with Klippel Feil syndrome. I fell a few months ago, bumped my head and seriously injured my spinal cord. I had reconstructive neck and spine surgery at Swedish Medical Center, Seattle WA in December 2016. I am recovering well and very highly recommend Swedish. Dr. Jens Chapman was my surgeon. He is world renown and specializes in KFS as well as other spinal abnormalities.

  23. Janette beebe says:

    Thank you for info.
    South Louisiana KFS.
    Searching for doctor.

  24. Hello,
    I’m a 44 year, female KFS patient. C2-C4, and C5-C7 were fused at birth; plus they are still the size of a five year old. I have an ACDF surgery for C4-C5, as I lost feeling in my hands and had no spinal fluid in that area. Along with KFS, I have Wolff-Parkinson-White Syndrome, Mitral Valve Prolapse, Graves Disease, my left Internal Carotid Artery is absent (missing), my left Common Carotid Artery is hypoplastic (underdeveloped and does not supply blood), an aneurysm in my right Internal Carotid Artery, two herniated disc in my tharacic spine, four bulging disc in my lumbar spine, arthritis down my spine, and I have not had cartilage in my knees since my late teens . There are other issues, but we have not determined the cause.

    Two of my children have been diagnosed with severe migraines. Both these children have a cerebral herniation — one is classified as Chiari-I Malformation. One of these children had a bent finger at birth. Another child had hip surgery at the age of 12 (skippy) — this child walks with his toes mildly pointed outward.

    Other family members; sister, aunts, uncles have different syndromes/diseases.

    I am now considering going for genetic testing. Can anyone tell me how this works. Would there be specific genes that are tested based on what I have, or family history. Should I ask for specific genes to be tested?

  25. I forgot to include in my previous post, that I have recently had spine injections to help with nerve pain. It only took one injection in my lower spine to give me around 90% relief from the nerve pain caused by the bulging disc in my lower spine. My left foot/ankle no longer feels like they are broken, and I am not getting the sharp pains in my hip or down my leg.
    Having those results I opted to get injections in my neck a few weeks later. My neck is where most of my pain had been over my life.
    First the right side was done. This injection was not as successful, giving me only about 40% relief. Optimistic, I went ahead and got the left side done (the injections on this side were the most painful). Now, a few weeks out, after the left side I can say that I have had a few free days!!! And the days with pain, are mild (well, mild in my book). Now after both sides have been done, I have about 80% pain relief in my neck, jaw, shoulders, and arms.
    Has anyone else had success with these procedures? Around how long do the injections last.

  26. Antoinette Chickett says:

    I have congenital fused vertebrae. I think i was born with 2 fusions,the older i got the more that became fused and now at 68 i have developed arthritis on that right side of my neck area where most of the pain emits from. I ,like you, live with pain. Its with me when i wake up, throughout the day and wakes me at night. I have been taking hydrocodone which at this point relieves my pain for about 1 hr.during that 4 hr period (i have been prescribed 4 a day)I have never been diagnosed with KFS but maybe that was not known about in the 1950’s. I am so happy you have recieved some relieve from the shots. I got a shot 1 time and it was horrible, i don’t know if it was the same type of shot, i will look into those because any help is better than no help. I have been to 5 different clinics/Drs and have given up on help. What city do you live in? I also have COPD which makes pain pills difficult because they suppress my breathing. I live in St Paul,MN. Best of luck and hope fo a permanent solution. Thank you, Toni

  27. Shannon L Ester says:

    Toni,
    Because my cervical spine is all fused, but one segment, and tilts to the left, the muscles on my right side are overworked. These muscles are always sore. The spine injections are still working for my foot, leg, hip, and left side of my neck. I hurt myself, so now the right side of my neck is tense again. I am not at the point where I need pain meds, but I have been taking Soma at night a couple times a week. This seems to help a great deal.
    I don’t like Hydrocodone, and only used them during episodes of extreme pain. Soma, a muscle relaxer, helps to loosen the tightness on the right side of my neck, giving some relief. There are nerve blockers, that I have used in the past, before the injections. These nerve blocker worked better than Hydrocodone, as my pain comes from nerves and muscles.
    Finding the right doctor or combination of doctors who work together, is key to finding the right treatment. And it may take several treatment plans before you get the right one. Being that I refused to take most of the pain meds daily — kids and meds do not mix — I put my doctors through a lot. 🙂 I’d tell them, I want to feel better without being doped-up. Physical therapy, muscle relaxers at night only (once in while), and epidural steroid spine injections seem to work for me. I will say, the spine injections hurt!!!! And it take 3-4 days for the full effect.
    There is another type of injection, called a selective nerve root block (SNRB) to target a specific nerve. These should only be done by EXPERIENCED Doctors, as the injection is right next to the root. And they are usually done to find the source, or exact nerve that is causing the pain. If the pain goes away, you doctor will know which nerve an decide a plan of action. These types of injections can be done about 3 times per year, so they are permanent fixes (same with epidurals.
    I know I will need to go in for more injections, but for me, not relying on pain meds everyday is a plus.
    I will always be in pain, but I can lower the pain through exercise, weight management, and now, spine injections.

  28. Becky says:

    Hi, my name isBecky . I’ve known my entire life that I had a congenital fusion of 2.3.4 c spine…I didn’t find out til 2015 that I also have mild scolios…
    During a surgery in the summer 2012, they had to manually bag me; I had bruises under my jawline…didn’t think much about it….I began have symptoms of pain in the neck, was ignored, then sent to a neurologist that did a CT and said nothing was wrong….by 2014 I could no longer feel my hands, the numbness was going up my forearms, I was also experiencing joint pain bilaterally in my fingers, bladder and bowel dysfunction also vasospasms that mimicked Raynauds….and spasms in my fingers and sometimes legs and arms…I ended up w/ marked edema and bruising on my spinal cord, now 2yrs post op I have headaches at base of skull that radiate, pretty bad pain in the midback, still have spasms, and those Vaso spasms, uninhibited bladder spasms; Hoshimotos and some odd colitis that on biopsy appears to be graft vs host disease….I just had a new MRI the c1-c2 looked elongated….the doctor said he didn’t know what it was as well as the radiologist! The spinal cord didn’t heal and I was told that is myelomalacia….he said it looked old and also mentioned some kind of streaks….I’m wondering if I have this condition, if so where in the world can I find a doctor? I also have tingling through my hands/fingers and feet/toes when I bend my head down i.e.: texting…I also suffer insomnia, hot and cold that seems pisitional, constant ringing and pressure in my ears….some of these symptoms are new; I’m not sure if the new doctor is going to take me seriously….
    Does anybody have any ideas or know of any doctors in or close to SC? Thanks!

  29. I am trying to get help from SSI with my 3 rd neck and back problems. My spine doctor and all the other doctor’s haven’t and don’t know if they ever release me to work. Please if you know of someone or group in Colorado please let me know.

  30. Michelle says:

    Hi Janeen,
    I live in Colorado and have KFS, if you ever want to talk!
    Michelle

  31. My adopted son has Klippel-Feil and Dandy Walker, both rare. Wondering if there is any kind of blog / group / social site for people with Klippel-Feil. It would be really nice to have.

  32. Narelle Eggins says:

    Hi I am searching to find what in the medical community is considered definitive of KFS. I have fusion of C3-C5, and a 30% scoliosis in the upper thoracic region plus some extra bone on one rib but have been told I do not have KFS, yet some journal articles say the syndrome is defined by some cervical fusion. Because I apparently do not have it, no other investigations are being undertaken and I have considerable pain in my neck at present.

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