An adult with KFS ~ Rosie's Story

A couple of months back when I first got the actual diagnosis of Klippel Feil Syndrome for my sweet son, my fingers started burning up the keys on my laptop.  I was searching and googling for others who had it, sites that explained it in a way I could understand and relate it to my little man.  What did the doctors know?  What were they not telling me?  What are our options?  While some of these questions still have not been answered, I have met some amazing incredible people through the process.  There are several who have been very near and dear to my heart.  I could write a special post on each of them.

Tonight I want to share with you Rosie (Sharon Rose). Here is a picture of her with one of her babies, Maggs. 

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.


Currently, Rosie has finally found a doctor who is willing to do the test and do something about what is going on.  She has been to many, many doctors who are basically at a loss.  Currently they have discovered that her C1 is not connected to skull..but its not connected to itself either! It formed as two pieces so it is separating which is causing the constant head pain.C1 is the ring that helps rotate your head. Unstable. The doctor has currently put Rosie in a neck brace in an effort to pick her skull up and relieve the pressure off of the unstable C1.  She will be in this for at least 6 weeks to see how she progresses.  Surgery has not been discussed yet, but I don't think it is ever out of the picture.  In other KFS news they found on the scans that she has several nodules on her thyroid, so she will be moving forward on discovering what those might be and what they can do to heal.

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.  They are currently working on becoming an official non profit organization.  One day there will be awareness, walks and fundraisers for our cause and help people like Rosie and Thomas.

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 .

People like Rosie have really brought a lot of peace, love and joy into my life.  They have embraced my journey and Thomas in a very special way.  While its not a journey I chose to be on, I am eternally grateful for dear friends like Rosie.  By sharing our stories and experiences we can help each other and direct to and away doctors that may not provide the necessary support that a patient with KFS needs.  Again, only 1 in 42,000 are diagnosed with Klippel Feil each year so the odds are against us from the beginning.  Please add my dear friend Rosie to your prayers tonight.  She is doing a great job of holding her head up high, but she has suffered for a long time and that weighs heavily on you.  And now she is in a place where answers may be on the horizon for some relief.  

I love you Rosie!!