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Dear Loved Ones,
I have some news that I would like to share with you. I’d prefer to tell each of you face-to-face, but that’s not really practically, so this mass email seemed to be the best choice. Some of you know all this, but I didn’t want you to feel left out – you can skip to the bottom.
Most of you know that over the past 5-6 years I’ve had some strange, un-diagnosed health issues that cause chronic pain, stiffness and a number of bad falls resulting in several broken bones and concussions. I’ve seen countless doctors and done more than 50 MRI/CT/x-ray tests. I’ve probably had more blood tests than I have blood in my veins! I’ve even done 3 lumbar punctures looking for rare diseases. And yet no doctor could tell me what was wrong. There were many times that we thought we had an answer, but it never seemed to explain everything. Having lived with more than one chronic illness most of my life – I know my body! And I knew we were missing something.
It’s a long story of how I got to the answer, which I won’t go into here because it was a very long and winding road full of wrong turns and redirections. But the bottom line is a few months ago after several days of researching online – I FOUND IT! I literally stumbled upon the description of a very rare disease that described everything I’d been experiencing perfectly. It even described some things that had been happening to me that I didn’t even realize were symptoms! It’s called Stiff Person Syndrome (SPS) – yes, that’s really what it’s called. I saw my neurologist and had him do the tests and both confirmed that I have the disease. Here’s the basic medical explanation:
Stiff-person syndrome (SPS) is a rare (1 in a million people) neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures are characteristic of the disorder. As stiffness increases, affected individuals may develop a hunched or slouched posture due to outward curving of the spine (kyphosis) or an arched back due to inward curving of the spine (lordosis), which is what I have due to spasms in my back. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don’t yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.
If you’d like to hear a better description of the disease you can view this video from Dr. Newsome at John’s Hopkins: http://raredr.com/videos/Scott-Newsome-stiff-person-syndrome
Currently the only treatment is high doses of muscle relaxants and anticonvulsant medications. Both of which make me very sleepy, forgetful and “fuzzy”. And while the medications do make me feel much more stable, it’s clearly not a long term solution for me.
The National Institute of Rare Diseases actually has a research study going on for SPS at Northwestern Medical Center in Chicago. The research involves Hematopoietic Stem Cell Transplant treatment. I’ve been in contact with them over the past few months, completed all the paperwork and as of today have been asked to go to Chicago to meet with the Neurologists and transplant team. This first meeting won’t be until November, but they will do a bunch of tests, answer the hundreds of questions we have and then we’ll decide if we move forward with the stem cell transplant.
I’m sending this email first so you all know what’s been going on, and second to ask for prayer. Scott and I have a long journey ahead of us. We both decided a while ago to live out loud, grieve out loud, and let those we love be part of both the good and bad in our lives. So I’m counting on you to walk whatever part of this journey you can with us.
Specifically here is what you can pray:
· I’m very relieved to finally have an answer, but it also brings lots of emotions with it too. So prayers as both Scott and I process this diagnosis.
· That our meeting with the Drs in Chicago will go well and we will have complete peace about moving forward with the transplant, or not.
· That our insurance will cover the medical expenses. They will not cover any of our expenses for travel or accommodations over the multiple trips to Chicago, but we really need them to cover the medical expenses.
· If we move forward with the transplant, it will involve harvesting my stem cells, chemo therapy (I will lose my hair) and then replacing the stem cells. So prayers along each of those steps will be critical – especially that I don’t get any infections. When it’s all done I will have the immune system of a baby.
· There will be about 5 separate trips to Chicago, 2 lasting 3-4 days, 1 lasting 10 days, 1 lasting 16 days, and 1 lasting 2 days.
I know this has been a lot of information! For those that made it all the way through – great job! I respect, appreciate and love each of you and feel comforted in the knowledge that you will be praying for Scott and I. It is, and always has been, our faith in a loving, merciful God that gives us the strength and courage to run whatever race is set before us. God is good, all the time. And He will get us through this new trial. I believe with a whole heart that one day soon I will be chasing after my grandkids, without any fear or pain!
Thank you! Much love to you all! Let’s do