Klippel Feil Syndrome Alliance Launched By KFS Patient Advocate

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

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Global Genes Comments

  1. 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.

  2. 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.

  3. 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!

  4. 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

    • Shannon L Ester says:

      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.

  5. 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.

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