I have met wonderful people on this journey willing to share their stories for the good of others. Please take the time to meet these awesome courageous people. Their stories are presented without my editing and published as is.
Sharon Rose Nissley
As a 41 year old patient with the congenital rare disease Klippel-Feil Syndrome,(KFS) pain is a 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 actually diagnosed until I reached age 38, but 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 "This is not the diagnosis you want." I thought, eh, we can figure this out, we are in a day and age where there are treatments, there are ways to fix things, there are ways to alleviate pain and get back to normal. Well, I was wrong. After seeing countless Neurologists and Neurosurgeons, and hospital stays for pain, I currently have a board certified Headache Dr who has stuck with me, but that is all. I take medications for nerve pain, but the pain persists, as does the other neurological symptoms that make every day a roller coaster.
Like many of us with KFS do, I researched online, I search constantly, I come to appointments organized and ready to advocate on my behalf. But I come up empty. I take part in KFS groups on facebook and co-lead a KFS group on MDJunction. In the past months many were bringing up ideas, and discussing the lack of care, and the need for more. This disease affects people of all ages and we are unknown, and we suffer.
So the question asked, who wants to help? A few KFS patients, families and friends came forth. A small group has met several times and exchanged emails, came up with a plan. We are going after non-profit status as the Klippel-Feil Syndrome Alliance. We are just beginning. We are aligning ourselves and gathering our troops. We are in this together aiming for awareness in the medical arena as well as the general public. We are after improved care and treatments. Funding and research is important.
For this rare disease, Klippel-Feil Syndrome, alliance is key.
Eileen M. Propp
My Mama, My Rick and My Montana
I have been asked to share my story many times and I always struggle to start writing. I am a writer, researcher and communicator yet I struggle to tell my story, why? My block stems from my belief that I am not defined by my body or by my job. In western culture we are used to saying where we work or what we do. At parties we lead with statements like I am a runner or I am a lawyer. I do not fit well into traditional boxes and consciously try to view other people without them. The spirit of me is complex. Inevitably when you write you must pick a theme, a thesis or some thread to follow to tell who you are. I have never liked labels and years of academic training in psychology, disability rights/access and communication leave me hesitant to ascribe them to myself. But labels and language are how we communicate so I am left feeling inadequate in my attempt to find words to share and describe who I am.
I am a forty one year old woman living with a rare chronic illness called Essential Mixed Cryoglobulinemia (EMC). I wrote in my journal when I was 11 that I was always cold. I wrote about feeling different than my friends because they could play outside longer than I could. When I was five or so my mother sewed five blankets into a fabric sleeve for me. The blanket still lives in my parents’ linen closet and my younger brothers grew up calling it the ‘lead blanket’. It was so heavy that most people hated it but I loved it! With hindsight it is crystal clear that I was cold! But of course the ascription of hindsight cleanly removes the angst and struggle I felt from the pain and fatigue. I have been formally diagnosed with EMC since I was 26 years old but I believe that I have had this disease since I was a young child. Of course, I can’t prove it but my childhood health history does give my theory credence.
I had 6 broken ankles between fourth and eight grades; all of them happened during the winter months when I was exercising, walking or using stairs. The orthopedic surgeon who operated on my ankle told my mother that he did not know what was wrong with my soft tissue but that it looked like someone had shredded it. People said I was klutzy, gangly or uncoordinated. None of those were true because I was a good athlete in gymnastics, volleyball and swimming. I won awards and was voted MVP on many occasions. But in sharp contrast to my athletic days there were days I could do nothing because I was in so much pain or so tired. I lay in bed and slept to recover. My mama supported me with unquestioning faith. When I hurt or was tired I told her and she believed me. Her faith in me, her gift of belief is something that has carried me through my medical hurdles and my life in general. She was and is my constant support and role model.
I continued to have good and bad days throughout high school and college. I had joint surgeries and odd health events that now fit with the diagnosis of EMC. I learned American Sign Language (ASL) growing up and became active in the Deaf community. After graduating college I was misdiagnosed with Progressive Systemic Scleroderma. I began to take immunosuppressive drugs to treat the Scleroderma and continued working as an ASL interpreter. I began to deteriorate and my doctors blamed my hand pain on signing. I looked into a career change and applied to graduate school programs. Then in 1997 I went to the snow for a women’s wellness retreat (prepare for the irony). After dinner I walked down the hallway and began to lose touch with reality. I felt far away and could not think. I ended up in the hospital with heart failure due to EMC. Heart failure led to an accurate diagnosis of EMC and removed the diagnosis of Scleroderma.
From 1997 to 2002 I experienced serious symptoms from EMC: blood clots, collapsed lung, joint destruction, joint surgeries and so on. I tried many immunosuppressive drugs to quash the EMC. I was given Cytoxan and other chemotherapy drugs to suppress the EMC. In 1999 the disease was winning so we had to change tactics. I was put on plasmapheresis treatment in 1999. Plasmapheresis removes the plasma and replaces it with donated plasma. The cryoglobulins live in the plasma so when the plasma is removed you remove the damaging cryoglobulins. My doctor likens the apheresis process to vacuuming a dirty window but leaving the window open. In other words the cryoglobulins are still being produced by my immune system, making the windowsill dirty all over again. To get treatment I went to the hospital two to three times per week. I remained on apheresis two to three days per week from 1999 until 2006. In 2006 I started getting a drug called Rituximab because EMC again seemed to be accelerating again. In 2006 I was given Rituximab and began to transition off of apheresis. By February 2007 I received my last apheresis. I now rely on Rituximab and Cellcept (another immunosuppressive drug) to suppress the EMC.
As a child and young adult I was not diagnosed. Then at 22 I was misdiagnosed with an illness that I was told would likely kill me in 5 years. At 26 I had a heart attack and was properly diagnosed with EMC. But in between and throughout I had support from my family and most notably my mother. Tragedy struck our family in March 1998 when my 22-year-old brother Mike died in an accident. It was and is the single most painful experience of my life. Watching my parents grieve after Mike’s death gave me motivation and strength to fight for my life. I vowed I would not let my parents lose a second child. I struggled to live as normal a life as possible and to keep my pain to myself as much as possible. I longed to protect my two surviving brothers. The love of a family is an amazing thing because through it all they were there for me. My parents built a cottage for me to live in behind their house and I started graduate school in the fall of 1998. I look back and think I was crazy for continuing with graduate school but with the support I had I felt I had no choice but to go. I ultimately obtained my M.A. in 2001 and my Ph.D. in Organizational Psychology in 2005.
I would be remiss in sharing my story if I did not tell you about my supportive, kind and loving husband, Rick. I met Rick in 2002 while I was still in graduate school. I called him after our first date to tell him that I had a rare illness. I explained that I had to go to the hospital and get treatment 2-3 times per week and would likely have to do this for life. He asked some questions but mostly he just listened. I delivered the news with the tact of a flea and the expectation that such a smart guy would run for the hills. He was not so easily dissuaded and taught me many things about love. He chose me when I was living on a machine. He chose me with this broken achy body and saw through it to who I am. This is a gift that I feel so lucky to have. We dated for one year and then were engaged. We married in 2004 and it has been wonderful to have him as a supportive friend and husband. I know that the love between us is strong and will not be broken by this body that continues to betray me. There are so many joys and highs in my life that I would not have known without my Rick.
In the past few years my life has been blessed all over again by Montana. Montana is my American Labradoodle service dog that was trained to help me carry things, open doors and seek help in an emergency. He was born January 27, 2009. Montana was bred for service work and started being trained when he was days old. He and I have been partnered since September 8, 2010. The relationship between a handler and service dog is very unique and difficult to describe but I can say that he is one of the greatest joys of my life! My EMC flares when the temperature drops. I can get cold on a hot day walking into a building with air conditioning. The doctors do not know the temperature at which I will flare or experience painful symptoms but Montana does! After being home for one year he started alerting me before I would flare. He seems to be able to smell the change in my body before I start to shake, feel too cold or get sores. He shares this information with me by his body position and his actions. Montana’s body temperature is 102 degrees, so I can use his body heat to warm me up when I hurt or flare. At 65 pounds he is the best heating blanket I have ever used. Montana goes everywhere with me and is viewed as ‘medical equipment’ under the Americans with Disabilities Act of 1990. He is trained to behave in public, go under tables and be available to do specific trained tasks to mitigate my disability.
I am very lucky to have a supportive family, an amazing mom, a loving husband and a service dog. My life is rich and full of so many wonderful things. Living with a chronic illness, fighting to live and getting through loss have only made me happier that I have the life I have. To make my life balanced I must be one table leg but the other three legs are my mom, my Rick and my Montana.