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    Posted January 22, 2014 by
    Elizabethton, Tennessee
    This iReport is part of an assignment:
    Living with a rare disease?

    Momma, Will You Ever Sing Again? A Mother's Plight With Stiff Person Syndrome


    CNN PRODUCER NOTE     rjohnnsontn says "My children are afraid to let me laugh, sing, walk more than to the next room...I miss always being there for them the most."
    - JacqueCNN, CNN iReport producer

    “Momma, will you ever be able to sing again?” my youngest daughter just recently asked me. I asked her with tears in my eyes, “Do you miss hearing me sing?” She just looked at me with those big blue sad eyes and nodded yes. I hugged her and said, “Yes, I will sing again.”

    We all go through life doing things automatically without thinking of how we do them. We run upstairs to tuck the children into bed; tell our loved ones we love them; read stories to our children; play ball in the yard with the families; attend ballgames to see our children play; go to work, come home, fix dinner, and do the chores all while helping with the homework. We snuggle to relax after the children have gone to bed to watch the television or read a book. Breathing, laughing or even a sneeze we do without thinking. All of these things I took for granted until I started to present debilitating symptoms.

    My earliest recollection I have of muscle spasms that were remotely related to Stiff Person Syndrome, a rare neuromuscular disease, was when I was in high school: my feet were bent over to the point I thought they could break and my calf muscles would cause me to wake up with spasms so severe that I thought they would explode. Throughout most of my adult life I have had reoccurring symptoms. I was even seen by a neurologist at West Virginia University for having symptoms similar to Multiple Sclerosis during my college years. The doctor told me it was all stress related and reducing the stress in my life would take the symptoms away. Graduating from graduate school and teaching full time surprisingly did help decrease the stress I was under, and the symptoms disappeared.

    In the spring of 2007, I helped my brother clean his flood-damaged home in Southern West Virginia, received the required tetanus shot for all workers and began to experience all the symptoms again with greater intensity. My current episodes have not subsided and have gotten worse over the years. That is when I started to see a neurologist on a regular basis. I participated in countless tests just trying to come up with a definitive diagnosis. It seemed like gallons of blood were drawn and countless EMGs with shocks and needles to read the activity of my nerves and MRIs to see if there was anything in my brain. That became a family joke. They found nothing in my brain!

    My doctors in West Virginia could not discover my problem because so many of my body’s systems were involved; I was transferred to the Cleveland Clinic in Cleveland, Ohio where it took my doctor several years to clinically diagnose me with Stiff Person Syndrome. Before my doctor came up with this diagnosis, she wanted me to stop working; however, it was not possible at the time. Although my husband was a full time preacher, it was at a small church in the community of Manila, West Virginia and my job carried the insurance. But it wasn't long before my health deteriorated even more, I had to teach my last two years in Chapmanville, West Virginia from a wheelchair. The administration, faculty and students were graciously accommodating to my situation.

    My husband was invited to return to the church where we first served together as husband and wife. Our first child was born there as well. We took a step of faith, moved to Elizabethton, Tennessee where my husband could preach full time, and I could stay home and focus on getting well. I put the wheelchair away and did not use it except to shop. Although the move was tiresome, my body responded to the rest. It was difficult seeing the children go to school, knowing that I was not going in as a teacher for the first time in 15 years. I began substitute teaching, and then began to work as an ancillary assistant at the local high school. I sang specials at church and was even privileged to be the choir director.

    During the last two years, my health has declined to the point where I am no longer able to direct the choir, go on youth outings or even watch our children participate in sporting events at school. My spasms have gone from intermittent spasms to constant contractions to where I have dislocated fingers, toes, even my shoulder. There are days when I am not even able to lie down because my back arches in contractions that are extremely painful. Spasms in the muscles around my eyes make it difficult to read because I see double. My muscle contractions can be brought on by an unexpected or excessive noise, touch, or being in a crowded room where folks bump into me. There are days it hurts to be touched. Falling is also an issue, if I am startled it can cause me to fall.

    The SPS has gone to my lungs since August of 2013. I am no longer able to work, help around the house, laugh, sing, turn my head in specific directions because it will bring on lung spasms so severe that I have a tendency to go into respiratory failure. I have been taken by ambulance to a level one trauma center twice and they were able to give me medication by IV to stop the lung spasms and the doctors have worked on a treatment plan that seems to be working as long as I follow it and do nothing at all. My immediate church family as well as other sister congregations have helped our family by giving us words of encouragement and sitting with me while my husband needs to work because I am no longer able to stay at home alone. The lung spasms come on quickly and I have passed out several times while home alone. My loving husband and wonderful teenage children help with the cooking and cleaning of the house. They even know what to do when I have a spasm at church while their daddy is preaching. Our 13 year old daughter, Candice, gives the orders and gets my medication, our 15 year old son, Daniel, does the water and paper towel run, and while our 17 year old daughter, Lydia, rubs my back in a certain way to ease the spasm.

    This is my story of how Stiff Person Syndrome has affected my body and my life. My symptoms are controlled by limiting my activity, taking my medication on time, and controlling the noise level in the environment around me. I have it easy compared to others with Stiff Person Syndrome. Their spasms and contractions last longer and some are taking IVIG treatments. Others are hospitalized for weeks because their spasms are so severe and last so long. Two people have even lost their lives to SPS.

    Although Stiff Person Syndrome has drastically changed my life for what seems to be the worst, through Facebook support groups, I have been able to make life-long connections and friendships with people whom I never would have had the opportunity to meet otherwise. I also get the pleasure to be a stay-at-home mom that doesn’t have to cook or clean. Stiff Person Syndrome has been a double-edged sword for me, my family, and my friends; I cannot interact and be as involved in activities anymore but I have the perspective of appreciation for all the small joys in life.

    There is hope out there but it is not easily obtained in the United States. Two people with Stiff Person Syndrome have been considered cured in Canada and a third person is currently undergoing this experimental stem cell transplant treatment. It is my hope that with the vast audience of this network that someone, whether it is a medical professional or a stay-at-home mom like me, will strive to make funding for Stiff Person Syndrome research and treatment available. Even if it does not directly help me, I have the hope and assurance that the funds will be used for an individual who deserves and needs the medical attention.

    I want to challenge the medical schools in the United States to converse with the doctors in Canada. Harold L. Atkins, M.D., B.Med.Sc. FRCP(C) at Ottawa Hospital Research Institute is the doctor in Canada doing the current stem cell transplant. Share information, bring awareness to this debilitating disease in the United States, quickly. I want to sing again.

    ---Rebecca McDonald Johnson

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