Thursday, January 11, 2018

What in the world is “Stiff Person Syndrome”?

Once my diagnosis sunk in and I went through part of the acceptance process, my first thought was, “Stiff Person Syndrome?! They couldn’t have named it something better?!” See, when I’m asked what illnesses I have, and I have to respond “Stiff Person Syndrome”, I either laugh, or they reply, “Stiff Person Syndrome?”, as if I’m just kidding with them by saying something with such a name. Nope. I really have a disease called Stiff Person Syndrome. Not the greatest name, but nonetheless a very real thing. 

Stiff Person Syndrome is so rare that it is thought to occur in fewer than 1 in a million people around the world. So we get very, very little awareness. 

  1. Stiff Person Syndrome is a neuromuscular autoimmune disease associated with high levels of anti-GAD antibodies. However, not everyone with SPS has these antibodies. 
  2. Stiff Person Syndrome is progressive, meaning it worsens as time goes on. 
  3. The symptoms of Stiff Person Syndrome include progressive muscle rigidity, with spasms, aching discomfort, muscle stiffness, muscle overactivity, spasticity, difficulty with ambulation, muscle fatigue, myoclonus, muscle cramps, muscle pain, and more. 
  4. 60% of people with SPS have Type 1 Diabetes.
  5. People with SPS are often left untreated for years because of how many doctors their illness can stump. 
  6. SPS often co-exists  with other autoimmune diseases, such as Type 1 Diabetes, Thyroid Disease, Adrenal Disease, Pernicious Anemia, and Vitiligo. 
  7. In the worst case of end-stage SPS, spasms causing breathing impairment and swallowing difficulties can cause fatality. 
  8. It takes an average of 7 years from onset of illness to receive a diagnosis. 
  9. Treatments include benzodiazepines (most commonly Diazepam), Intravenous Immunoglobulin (immunoglobulin is taken from the plasma of over a thousand blood donors), and Plasmapheresis (a process where the blood is taken out of the body and the plasma is separated from the blood. This removes the antibodies and then the clean blood is returned to the body with a plasma substitute).
  10. Because of the rarity and complexity of the disease; many patients are misdiagnosed and labeled as psychogenic, delaying much needed treatment. 
  11. The progression of the disease is unpredictable and is different in every patient. 
  12. Mobility aids are often needed because falls are frequent. 
  13. SPS was discovered in 1956.
  14. Our awareness ribbon is the zebra ribbon, meant for rare diseases. 
  15. SPS is an umbrella term and there are many different variations. These include classic SPS, a Stiff-Limb Variant, Jerking-Limb Variant, and Stiff-Trunk Variant. It also includes PERM, which stands for Progressive encephalomyelitis with rigidity and myoclonus. 

I was relieved to finally have a diagnosis. However, the next phase was worry about the unknown. SPS is such an unpredictable disease, and progresses differently in everyone. I have no idea how quickly or slowly mine will progress, and I’m not a fan of the unknown. But for now, I just have to remind myself to be thankful for every good day. 

1 comment:

  1. I love your explanation of our disease, and would love to share this on my page. I have the variant called Stiff Jerk Person Syndrome, and my page is Stiff Person Syndrome Support Group USA. I hope you are as comfortable as possible. Wishing you all the best, Dawn Larrison.