- Posted January 25, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
Imagine arriving to an emergency room like this - and no one has heard of your disease...
In 2006 I began to feel some strange severe muscle tightening. I was working full-time and I was finally the most independent I had ever been in my life. I tried to carry on with my daily life as a mom and wife as if nothing was wrong. During the next few weeks I continued to get worse; those unusual muscle feelings made it difficult for me to walk and now I was noticing severe shaking in my lower extremities.
Approximately three weeks after my first symptoms appeared, I visited my primary care doctor. I made my way into his office dragging my feet as if they were stuck in cement. The doctor ran an instrument along the bottom of my foot causing my toes to point like a ballerina to the floor. Then he checked my reflexes, and my legs went flying up in the air so forcefully that my husband scolded me: "Don't kick him." The doctor turned to him with a serious face and said, "She didn't do that on purpose. I hate to say this but your wife just failed every neurological exam we could give her without doing a brain scan, and there's something not right." Those are words I will never forget.
My primary care doctor ordered a bunch of blood work and a brain scan to be done as soon as possible and referred me to a neurologist. When I went to my neurologist for the first time, he advised me I had a very good primary care doctor who had already ordered a lot of the tests the neurologist himself would have ordered, so I was lucky. The neurologist looked over everything my primary care doctor had done including the brain scan which was normal. There was, however, one blood test he wanted to do, telling me "I am going to check just to be safe, but I doubt you have it." He began talking to me about two different illnesses, both rare. The first thing he spoke of was Dystonia.
The other was Stiff Person Syndrome. He explained that Stiff Person Syndrome (SPS) is an autoimmune disease, like Lupus, Celiac Disease or Multiple Sclerosis. In autoimmune diseases, the body's own natural defenses, which are supposed to attack invaders like bacteria and viruses, instead begin to attack the body itself. Victims of Stiff Person Syndrome have too many antibodies related to GAD, a critical enzyme for normal muscle function. My doctor was a part of the largest neurological clinic in Michigan, seeing over sixty-five thousand patients a year. He had seen a case of this Stiff Person Syndrome during his residency, but he really didn't think I had it. The doctor explained that the treatment that they use for the two diseases is usually the same and that he wanted to start me off with Valium to see if my body would respond while he waited for the test to come back.
Later in the month I received a call from the neurologist himself. He asked me how I was doing and if I found some relief with the Valium. I told him I was doing better but that I felt like a zombie, which at the time was hard for me because not only was I still trying to work but I had a son who was in pre-school. It was then I learned that my blood work had shown a level of anti-GAD antibody seventeen times the normal limit. He wanted me to come back in for an EMG, a test given to people with muscle weakness, to confirm ... but he was pretty sure I had Stiff Person Syndrome. My EMG was off the charts. They only began to poke one leg but because this is neurological it sent the signal all the way through to the other side of my body and every muscle went into severe spasms. I felt as if my muscles would rupture at any moment.
My neurologist explained that Stiff Person Syndrome was autoimmune-related, and I asked him, "How do people get this horrible thing?" He explained that from what he had learned, our own immune system is attacking itself because there are too many antibodies. The one thing that he had heard that was helpful was IVIG, a process where they infuse good antibodies to replace the bad. The doctor wanted to start the treatment right away, but warned me that my insurance company may not pay for it.
When you've got a serious illness and someone tells you there's something that could help you, all the rest, including the cost and the risks, just go over your head. Your focus turns to survival mode. I have three boys and my youngest was three years old at the time I was diagnosed. Even to this day, my youngest suffers at school emotionally because he is always worrying about me. He has seen terrible episodes, which is something no child should have to see, or let alone a human should ever have to go through.
I was put on many different medications and none were successful except the Valium and IVIG. I received Botox shots in my calf muscles for a period of time to help paralyze the muscles between infusions of IVIG. I have been on higher and lower doses of Valium all fluctuating with the illness.
Last year during an IVIG infusion I developed a meningitis reaction and my doctor advised me I could no longer get that treatment. It scares me to think what happens next. My illness now has progressed to lower constrictive lung problems. I was hospitalized for several days in October 2013 getting Valium through an IV because the doctor didn't know what else to do. I presented at the emergency room unable to speak my name and my husband helped hold my body still on the bed as they tried to look up on the computer what this rare illness is.
In fact, this is what most of us with SPS go through when we go to a hospital. It's sad, but we've come to expect it. In fact we often speak of our frustrations with the lack of awareness amongst the doctors and hospitals causing more stress on us - and stress is one of our biggest triggers for an SPS attack.
My bout in October of 2013 was the worst episode I have had since I was diagnosed. I am afraid of the future and the unknown. I would like to be able to tell my son, "Don't worry, Mommy will be okay" ... but I wonder, will I be?
I would love to have CNN help raise awareness for SPS. You see, I look at it like this; every number is just that, a number. It can represent so many things. One in a million can be the chance at winning the lottery, but those of us with this one-in-a-million disease would gladly turn down that lottery check to get our normal lives back. Unfortunately we do not have that choice.
But we do have a voice, and we need to be heard loud and clear. We should not have to wait for more people to be diagnosed or, worse, lose friends or loved ones because this disease is not widely known or studied. We have the right to a cure, just like someone with cancer who could be cured by receiving chemotherapy, by getting a kidney from a relative, etc. We want our plight to be known - anything less is inhumane.
Currently there is a study going on in Canada that has put two SPS sufferers into remission by use of a stem cell transplant with no cost to them. However, US insurers and medical practices are unwilling to try this on any of us except under a costly clinical trial to the patient.
We will keep suffering unless we can get the word out in the United States that we are here and need help. We want our voices heard no matter how many of us there are, no matter how many stories you read. We all are suffering, and struggling to live full lives according to our abilities. We all have good days and bad, but for many of us the bad too often outnumber the good. It is sad to think that we are just a number. We are human just like everyone else.