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, 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 one 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 final conclusion based off of two lab tests in particular showing a significantly elevated level of thyroid peroxidase (TPO) and antithyroglobulin (TG) antibodies--TG almost 6 times that above normal and TPO about 46 times above normal. In considering my symptoms, results from scans and tests, and the exclusion of other causes, I was given the diagnosis of Hashimoto’s encephalopathy, a form of autoimmune encephalitis. Had it not been for those lab tests showing my significantly elevated antibodies, we would not have had our missing piece that pointed to a diagnosis and cracked this mysterious puzzle.
The doctor explained my body had launched a mistaken 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 had made had essentially saved my life.
My experience with HE has changed who I am as a person, both in dealing with the post-diagnostic effects the disease had left me with to my new-found perspective on life. 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 with HE to raise awareness for 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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