**Originally from an email***
Please allow me to introduce myself. My name is Meghan Bayer and I am a junior Emergency Medicine and Communication double major at the University of Pittsburgh. I am in the planning stages of my senior thesis in which I am planning to do research on rare diseases, specifically SPS, and the diagnostic process that patients go through. I am planning to use public support groups, online forums, personal testimonies, existing studies, and interviews to extract my research.
Now you may be wondering of all the diseases defined as “rare” by the National Organization for Rare Disorders, why SPS? My logic is two-fold. One, even if the number affected by SPS is higher than the 7000 people estimated to have SPS worldwide (which I believe it is much higher with many people being misdiagnosed and/or going undiagnosed), I still believe that the number of Americans affected would still fall under the “less than 200,000 Americans affected” definition that NORD utilizes. For purposes of this research, a “rare disease” will be a disorder affecting less than 200,000 individuals, in large part because it is the most commonly used definition that I have seen across different specialties. Public resources and support groups are readily available sources of information, straight from the patient, which I believe is important.
Second, for the last five years, I have dealt with several chronic illnesses and autoimmune diseases. For years, it was “focal dystonia secondary to Complex Regional Pain Syndrome”, which quickly became “generalized”. While I don’t doubt that I have some dystonia secondary to CRPS and neither do my doctors, we know it is not the whole story. I know the difference because the spasm patterns are different if that makes any sense. When the GAD65 came back high in serum and CSF, along with elevated levels of several other antibodies, like islet cell, amphiphysin, and thyroid antibodies (with normal TSH) to name a few, we investigated further. On 44mg clonazepam, 160mg of baclofen, and 400mg of dantrolene a day, all my EMGs have come back inconclusive, but showing signs of agonist-antagonist co-contraction and continuous motor unit firing. All 3 QSARTs have come back very abnormal, as did my tilt table test (further evidence of dysautonomia). CT scans and x-rays have been negative for malignancies or any other cancerous process.
We know three things; this is neurological and autoimmune in nature and is more likely than not on that “GAD65 spectrum”. I have almost lost my life several times because of refractory status seizures, profound bradycardia/hypotension from dysautonomia, respiratory arrest, and unexplainable encephalopathy (not consistent with AI encephalitis) to name a few. This fiasco started two weeks after my 16th birthday and the amount of information available on pediatric onset SPS/GAD65 mediated disorders is almost non-existent. My point is that even with all these tests coming back positive or highly suggestive of SPS, it still took over 5 years after they got all those test results back to get an official diagnosis and in turn, a treatment plan. This journey has been long and precarious, but I would like something good to come out of it and I believe that this research will do that. I can see myself continuing with more advanced research after medical school. I figure if this research helps make the diagnostic journey shorter for someone else then it is worth it.
My faculty supervisor and I are currently applying for IRB exemption status, but I was hoping to collect some good resources that are already out there prior to starting. If you could recommend some reputable articles or even share some information yourself, I would greatly appreciate it.
Meghan L. Bayer