- Posted January 18, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
One in a million and it's not something you want to win.
In 2006 I began to start having 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 having my first symptom I visited my Primary Care Doctor. I made my way into his office dragging my feet as if they were stuck in cement. When my doctor came into the room my husband commented to him something I don't even remember because the other things that happened during that visit stand out more than his silly comment.The doctor did the test of running something along the bottom of my foot causing my toes to point like a ballerina to the floor. Then he checked my reflexes, needless to say my legs went flying up in the air and I almost kicked him. My husband looked at me and said "stop what are you doing? Don't kick him". The doctor turned to him with a serious face and said she didn't do that on purpose. To which he replied "what do you mean"? The doctor replied ; " 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 the 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 and that he had done a lot of the things he would have ordered already 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 he said I am going to check just to be safe but I doubt you have it. He began talking to me about two different things, two illnesses that were rare. The first thing he spoke of was Dystonia and the other was Stiff Person Syndrome. My doctor was a part of the largest neurological clinic in Michigan they see over sixty-five thousand patients a year. He explained that he had seen a case during his residency of this Stiff Person Syndrome 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 that my level of anti-gad antibody was seventeen times the normal limit. He wanted me to come back in for an EMG to confirm but he was pretty sure I had Stiff Person Syndrome .My emg was done and needless to say it 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.
Once my neurologist explained Stiff Person Syndrome and how it was Auto immune related I asked him " How do people get this horrible thing"? He explained that from what he had learned is that our own immune system is attacking itself because there is to many antibody's. The one thing that he had heard that was helpful was IVIG, a process where they infuse several good antibodies to replace the bad. The doctor wanted to start the treatment right away. However it is possible the insurance company may not pay for it. The interesting thing is that when someone tells you there's something that could help you all the rest including the cost, the risks all just go over your head. Your focus turns to survival mode. I have three boys and my youngest was three at the time I was diagnosed. He 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 none were successful except the Valium and IVIG. I received treatments of Botox shots in my calf muscles for a period of time to help paralyze the muscles in 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 to it and my doctor advised me I could no longer get that treatment. It scares me to think what happens next. I was hospitalized in October 2013 and my illness now has progressed to lower constrictive lung problems and I was hospitalized for several days getting valium through the 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 expected by those of us with SPS now. In fact we often speak of our frustrations with the lack of awareness amongst the doctors and hospitals causing more stress on us which is one of our biggest triggers .
This 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 ok 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 a can be so many things. One in a million can be winning the lotto but those of us with this one in a million would gladly sign the check back over but we do not have a choice. Nevertheless, it is time to give us a voice and we need it heard loud and clear. We should not have to wait for more people to be diagnosed or worse lose friends or loved ones because someone out there thinks there are not enough of us to look into this.
We have the right to want a cure just like someone with cancer who could be cured by receiving chemotherapy, by getting a kidney from a relative, etc. We should be thought of and someone out there should be willing to see that it is inhumane to let us go through this just because not enough of us are affected by this disease as far as the medical community is aware. You see it has come to the attention of the SPS families in our support group that there is a study going on in Canada that has put two with SPS into remission by use of a stem cell transplant with no cost to them. However, no one here is willing to try this on any of us except under a costly clinical trial to the patient. We are not going to get anywhere and will keep suffering unless we could 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 living life to the fullest according to our abilities. We all have good days and bad but the bad outnumber the good. It is sad to think that we are just a number. We are human just like everyone else.
I would like to thank CNN for their coverage of this disease. May CNN be the light at the end of a dark tunnel that leads us to a path of good health and healing.
Thank you for taking the time to help us spread the word. Forever grateful! Kristine Brothers
The video attached is a short version of the start to a spasm episode that lasted three days.