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.