So as I mentioned earlier I was asked to write my story about my SPS journey for our new website, I havent been able to get it up on the website yet due to some word count restrictions but I figured I would share it here on my own wall, if you have a few minutes to read it please do, our goal is to raise awareness and I hope this does, so here it is : I was a 28 year old mother of two; I had two beautiful daughters, a house in a small suburb just south of Boston, two cars, a cat, and a normal suburban life…well so I thought. What I didn’t know was that my body was attacking itself from within and causing a hyper excitability of my central nervous system. I had spent my twenties dealing with some health issues, at the age of 23 I was diagnosed with hypertension which made for difficult pregnancies and deliveries. At age 28 I was diagnosed with a very rare eye movement disorder called Superior Oblique Myokymia (SOM), my fourth cranial nerve was randomly spasming causing moving, shaking double vision. I had MRI’s and saw several specialists before finally getting the correct diagnosis of SOM. I was put on some meds to control the eye movement and I thought things were settling down, I got a part time job as an Outreach Worker at a local senior center which was perfect mother’s hours. Things seemed to be getting back to normal, or so I thought. Around age 24 I would wake up with stiff necks, I just thought that I slept on it the wrong way? Every time I went to the doctor, they would point out how hard my muscles were in my upper neck, but I didn’t think much of it, that is until it started working its way down my back. I started getting what I would describe as “Charlie horse” cramps up under my right rib cage, they would last about one minute and then pass. But as time went on these cramps became more and more frequent and I was having pain in my rib bones, I was also having muscle spasms in my thoracic and lower back now, not just my neck. I went to see my Primary care physician who was worried about the bone pain I was having in my ribs, she wanted to rule out bone cancer, and so I was sent for a bone scan, everything was normal. She then sent me to a Rheumatologist who ran tons of tests, everything normal. Next, Endocrinologist, again everything normal, then MS Specialist, who basically threw me out of his office and didn’t understand why I was there, my neurological testing was all normal and my MRI’s were normal. Next was the Hematologist to look for lymphoma, leukemia, and multiple myeloma, again everything normal. She was running out of specialists to send me too, and in the meantime I was developing rock hard muscles all down my spine and having daily pain and spasms. My rib cage was on fire and those Charlie horse cramps would not let up. I was frustrated not having any answers, I was relieved that I did not have any of the things I was being checked for, but frustrated none the less. My Primary Care then referred me to a Physiatrist at Spaulding Rehabilitation; a physiatrist is a doctor who works with muscle, bones, and nerves. When I got to Spaulding the doctor couldn’t believe what she was seeing! She told me that she had never seen back, neck, or glute muscles as hard as mine before. She labelled it as Myofacial pain syndrome and suggested weekly trigger point injections and physical therapy. I faithfully went every week for my injections, chiropractic manipulations, and physical therapy. Finally after about 10 months of this therapy she looked me in the eye and told me that I wasn’t getting better, my muscles were getting worse. The pain that I was experiencing on a daily basis was getting worse as well, I was tired, in pain, and trying to work and take care of two children, something had to give. My Physiatrist knew of a great neuromuscular doctor at Mass General Hospital and e-mailed him, for she had a feeling that what we were dealing with was something much more ominous than Myofacial Pain Syndrome. The very next day MGH called me and asked if I could come in that day, of course I would, this was my chance to finally figure out what was plaguing me. When I got to MGH I met with the Head doctor’s fellow who was very thorough, he spent about 2 hours taking my whole medical history and what we had tried and ruled out (which was all of the obvious causes of muscular pain). After this 2 hour evaluation he looked at me and said I think you either have something called Isaac’s Syndrome or Stiff Person Syndrome. Then Dr. David came into the room and agreed with his fellow’s assessment that this did indeed appear to be some type of nervous system hyper excitability disease, they immediately booked me for an EMG and lots of blood work to check for the common antibodies that cause these diseases. All of my blood work came back normal and my EMG was pretty normal beside one cramp fasciculation. The normal EMG ruled out Isaac’s syndrome and that is when they determined that I had Stiff Person Syndrome. Only, I am not your typical case of SPS, I am what they call GAD negative SPS. GAD is the antibody that is typically found in high titers in people with SPS, but about 20% of people with SPS are GAD negative, they still don’t understand what causes SPS in GAD negative people, it could be an anti-body that has yet to be identified. They are currently trying to send a blood sample to a doctor in Barcelona Spain who does research on another antibody called Glycine, that is often found in central nervous system disorders and can be found in people with SPS who are GAD negative. They do not test for Glycine in the United States which is why they are trying to get a sample to this doctor in Spain. This disease is like a monster that eats away at every part of your life. I had to leave my job as an Outreach Worker, I need help taking care of my children, and my husband has had to take over almost all of the house work. I have good days and bad days. I am on many many medications which make me feel very sedated. I sometimes have to use a cane to get around my house on my bad days, and just recently got a handicap placard for my parking. Some days I can’t get out of bed, right from the get go I am in spasm and in so much pain I lay there for hours writhing around moaning in pain. Sometimes I have full body spasms, which look almost seizure like, they are back arching painful cramping of almost all of my muscles in my body, no muscle is spared. On a day to day basis, even with the medication I have stiffness and pain all throughout my spine and into my legs. It is very hard to explain this disease to people. I am what they call a zebra in the medical field and this disease is considered one in a million. There are only about 350 people diagnosed with SPS in the United States and I am one of them. Some days it is really hard to wrap my brain around that! My disease is a very progressive one, and treatment options are very limited although there is some hope for stem cell transplant in the future. Currently I am discussing starting plasmapheresis because my meds are not controlling my spasms and pain. They would have to insert a central line or port into my chest and I would have infusions about every other day for a week or two and hopefully get control of my symptoms. If that doesn’t work my last option is IVIG therapy. Because this disease is so rare there is hardly any research being done, and there is absolutely no awareness. We with SPS, us “zebra’s” would like to change this, which is why we have started an action network and non-profit organization. We need money for research, we need more awareness, and we need more action from the medical field. I want to live to see my children grow up, I don’t want to lay in bed in pain anymore, and I want a better future. This was a train that I never saw coming, and it is not slowing down. I don’t want to lose anymore of myself; I try to stay positive, for myself, but especially for my daughters. I hope this organization can give me a chance at a better future and I can have my life back and to quote one of my favorite songs “Give me hope in the darkness that I will see the light”, this sums up how I feel, we just need some hope to hang onto and I do believe that we can if we all work together to find a cure for SPS. Valerie O’Loughlin
Posted on: Tue, 16 Sep 2014 22:18:57 +0000
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