For most of my life, I have been affected by random episodes of uncontrollable muscle spasms. When I was young, no one really thought anything of it. In 2012, these muscle spasms grew in intensity and we knew something wasn’t quite right. It wasn’t until 2013 when my limbs began stiffening into fixed contractures that we knew something was wrong. I was diagnosed with dystonia and treated with all the usual medications and modalities. In the last two months, however, we realized that we are dealing with a much bigger and hard to treat condition. This began our quest for a diagnosis. The real diagnosis, which we hoped would give us a new series of treatment options.
Stiff Person Syndrome (SPS) is an extremely rare, one in a million neuro-autoimmune disease. An antibody called GAD 65 attacks the brain, spinal cord, and all of the nerves. There are a few variants of SPS, but the most common tends to be the classical type. It is a spectrum disease with some people mildly affected and others severely affected that it threatens their lives. SPS is a subtype of dystonia, a common movement disorder, that I have been living with for three years now.
These muscle spasms are so strong that they can dislocate joints, tear muscles, rupture tendons and ligaments, and even break bones. As you can probably imagine, SPS causes unbearable pain. The human body is stronger than many of us could ever imagine. Fortunately for me, I have joint hypermobility syndrome, which means that my muscles, tendons, and ligaments are very stretchy. In some ways, it is good and in others, it is pretty bad. It is good in that it is keeping my bones from breaking, but on the flip side, that means that everything is being stretched beyond its limits.
SPS is diagnosed primarily on clinical signs and symptoms, but there are a few criteria to diagnose the average case of SPS. They are referred to as the Dalakas Criteria.
The Dalakas Criteria are:
-Stiffness in the axial muscles, prominently in the abdominal and thoracolumbar paraspinal muscles leading to a fixed deformity.
-Superimposed painful spasms precipitated by unexpected noises (startle reflex), emotional stress, and tactile stimuli
-Confirmation of the continuous motor unit activity in agonist and antagonist muscles by electromyography (EMG)
-Absence of neurological or cognitive impairments that could explain the stiffness
-Positive serology for GAD 65 (or amphiphysin) autoantibodies, assessed by immunocytochemistry, western blot, or radioimmunoassay
-Response to benzodiazepines, such as diazepam or clonozapam.
This version of the Dalakas Criteria was obtained from: http://emedicine.medscape.com/article/1172135-treatment
*GAD stands for Glutamic Acid Decarboxylase*
Some people are diagnosed without the presence of GAD 65 in their blood, but because I have it, I believe it strengthens my case.
The treatments for SPS are as follows:
-Muscle relaxers like Baclofen and Dantrolene
-High Dose Benzodiazapines
-Rituximab and other immunosuppressants
-Physical and Occupational Therapy
While I would not classify my SPS as mild, it could definitely be worse. I have been showing symptoms of this since I was a young child, but my symptoms are progressing rapidly. I need confirmation of the diagnosis as soon as possible. In order to treat me, we are waiting on two more tests: my EMG and my cerebrospinal fluid (CSF) tests for GAD 65. I feel fairly confident that my EMG will come back abnormal, but I'm not sure about the CSF tests. I'm walking on faith at this point. My doctors, family, and I believe that Stiff Person Syndrome, a one in a million diagnosis, is the answer we have been searching for years. For the time being, this is our working diagnosis.
I have always been told that I was extraordinary, but I never saw this one coming. Hopefully, I get my confirmation of a diagnosis soon and treatment can be started. Maybe, just maybe, I'll be able to walk again soon.
At this time, I am being treated with muscle relaxers that really aren’t doing much. I have failed IV steroid therapy and physical and occupational therapy are not options at this time. I have several appointments in January and hopefully, we can get me started on a more aggressive treatment regimen to bring my symptoms under control.
I am a 20 year old junior at the college of my dreams. I am studying Emergency Medicine and Communication Rhetoric and minoring in the Administration of Justice and National Preparedness and Emergency Management certificate. At some point, I want to go and get my paramedic certification when my health allows. I have several chronic illnesses and this blog and website serves as a place for me to share my journey fighting CRPS and my other conditions. I hope that this blog can also serve as an outlet for raising awareness for rare diseases. Thanks for reading and I hope you enjoy! Feel free to comment; I'd love to know what you think!