In the field of rare diseases, all too often patients can find themselves caught in a long, stress-invoking diagnostic odyssey. Finding a name for the condition that plagues them can take many years that are filled with seemingly endless tests, procedures, and physician visits. Here is Maddy Boehme’s story about her search for a diagnosis.
My Diagnostic Journey with autoimmune encephalitis (Hashimoto’s encephalopathy)
What started out as a typical sophomore year for any high schooler ended in a long, unexpected journey to crack the mysterious case of a girl with sudden strange neurological symptoms. My name is Maddy Boehme, and I was diagnosed with Hashimoto’s Encephalopathy, a rare form of autoimmune encephalitis (AE), at the age of 16.
My journey to diagnosis was not a simple one, as the answer was not an obvious one. What started as strange random crying spells progressed into seizure-like/stroke-like episodes, months of an insane drug-resistant insomnia, and suddenly struggling with things in school like forgetting things I had just read and problems with being able to read and write. My life up until that point had been completely normal. I had never known any real struggle, I excelled in school, and I found myself confused as to what on earth was going on with me. No 16-year-old girl suddenly develops these issues out of the blue.
While many doctors couldn’t crack my mysterious case, eventually we came across a doctor who could. After several rounds of CT, MRI, SPECT, and EEG showing some abnormalities and ruling out other possible causes, my doctor came to his conclusion based largely on 2 lab tests, which showed significant elevations in thyroid peroxidase (TPO) at 6 times above normal, and in antithyroglobulin antibodies (TG) at about 46 times normal levels.
I was given the diagnosis of Hashimoto’s Encephalopathy (HE), a form of autoimmune encephalitis. Had it not been for those lab tests indicating an autoimmune problem, combined with my neurological symptoms, results from scans and tests, and the exclusion of other causes, we would not have cracked this mysterious puzzle.
The doctor explained my body launched a mistake attack on my brain. This attack caused inflammation in my brain which in turn caused atypical neurological symptoms. If left untreated, HE can cause serious neurological consequences, coma, and eventually death. The timely diagnosis of HE my doctor made essentially saved my life.
Having lived with the disease for 8 years now, it’s amazing to see how far our understanding of autoimmune encephalitis has come since I was diagnosed in 2014. My current adult neurologist has newer tools, such as fluorodeoxyglucose-positron emission tomography, or FDG-PET, which can provide much better images of the brain. In addition, there are better tests of both blood and cerebrospinal fluid (CSF) for AE antibodies; testing both fluids is important, as this is something most doctors miss when assessing for AE. These tests help us further understand my neuroinflammation and the mechanisms at play in my HE/AE. We also use yearly neuropsychological evaluations to track treatment progress and help paint a picture of what testing and imaging may not show.
I am fortunate enough to receive a newer treatment for AE, an immunosuppressing drug called tocilizumab (ACTEMRA®) I also receive intravenous immunoglobulin (IVIG), which are antibodies taken from healthy donor plasma, as well as rituximab (Rituxan®), another kind of immune therapy.
My experience with HE/AE has changed who I am as a person, both in dealing with the post-diagnostic effects of the disease, and in my new-found perspective on life. I am thankful I was. I became thankful I was one of the lucky few to receive a timely diagnosis. I now volunteer as Vice President of the Hashimoto’s Encephalopathy SREAT Alliance and speak publicly about my journey in order to raise awareness about HE/AE. My diagnostic journey with Hashimoto’s Encephalopathy was life-changing in more ways than one and I’m thankful for the person I’ve become because of it. – Maddy Boehme
Maddy’s story is a powerful example of the long and complex journey that patients with rare diseases embark on. At Quest Diagnostics, we are committed to moving the field of rare diseases forward and helping patients find answers through diagnostic insights.
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