Medical Mystery Solved: The Rare Illness That Stumped Doctors for More Than a Year
I Solved My Medical Mystery and Found Relief for My Twisted Neck
Plenty of Doctors, Then a Self-Diagnosis
My neck was not getting any better. It was frozen in position — causing me intense discomfort which went from lasting several weeks, to months, and eventually, years.
I invested in electric heating blankets, over-the-counter pain medications, ice packs, and other remedies I thought would fix my neck. The stiffness was unbearable. I hated what it was doing to me and what it was doing to my self-esteem. There were times when I felt as if my head was about to be ripped from my neck. The spasms became my abuser, invading my life as I drove, watched television, ate, and as I tried to carry out my duties as an ICU nurse.
I began seeing doctors, plenty of them. They took blood tests, scanned my head and neck, threw me in traction, prescribed muscle relaxant pills, and filled out disability claim forms. However, they gave no real answers or diagnosis. When my head scan results came back negative, I was relieved that I didn’t have a brain tumor or multiple sclerosis. The only result the MRI reported was “hypertrophy of the bilateral sternocleidomastoids,” which I didn’t know how to interpret medically, other than understanding the reference to the major muscles in the neck region. Was this a crucial finding?
Finally, I diagnosed myself by finding a picture of a grimacing woman with a twisted neck in Merritt's Textbook of Neurology. There she was looking back at me on paper. I wasn’t crazy after all! I found the answer — dystonia!
The word swirled around in my head as I came to terms with my newfound knowledge. "Dystonia," the book read, "a neurological disorder characterized by over activity of a specific muscle or group of muscles. This causes involuntary movements and tremors, sustained muscle contractions and abnormal bizarre postures."
Confirming My Dystonia Diagnosis
I wanted a real diagnosis, so I sought out the help of Dr. Mitchell Brin, a neurologist practicing at Mt. Sinai hospital in New York City, who was famous for his diagnostic ability and knowledge of movement disorders. I had read all 98 scientific articles published by him before walking into his office. He reminded me of a mad scientist with a clear mission — finding a cure for dystonia.
Dr. Brin performed a three-hour long neurological exam and history, after which he immediately told me I had dystonia. The woman in the textbook existed after all! By this point, I could no longer sit or stand for extended periods of time. I had trouble swallowing certain foods and sleeping in one position, and driving had become a horror.
Brin explained that dystonia was a disorder rooted in the basal ganglia of the brain — the center that coordinated movement. The over-activity of the affected muscles caused involuntary movements, tremors, sustained muscle contractions and abnormal postures. He emphasized that dystonia was not a psychiatric disease; nor was it caused by stress, a muscle disorder, a seizure disorder or anything fatal.
Apparently, I began exhibiting signs of dystonia at age 19, and had facial spasms, tics involving the eyes and chronic laryngitis starting around age 13.
I left Brins’ office with the diagnosis of cervical dystonia, dystonia, and dysphonia — a form of dystonia affecting the vocal cords. I had always wondered why I never could be heard during ICU revivals.
Trying Treatments and Resisting a 'Disabled' Label
Immediately I was introduced to Botox (botulinum toxin) which, when injected, stops overactive muscles from contracting for a period of 12 weeks or so.
I also began trials of different oral medications that were more commonly used to treat other medical conditions such as spasticity, tremors, neuropathy, seizures, Parkinson's disease, and epilepsy. I took multiple drugs over the next six years. The drugs provided no symptom relief, instead causing a number of side-effects ranging from dry mouth to diarrhea to Parkinson-like symptoms and insomnia.
By 2003, I had done everything I could medically. I began to wonder if I should just quit. My local neurologist, a quiet fellow, had nothing to offer me. There was little new applicable research and what research did exist was primarily focused on a specific protein, genetics, and dystonic mice.
Gradually, I realized I was disabled. For me, dystonia remained a condition for which there was little, if any, new treatment that would alleviate the symptoms, the spasms, the exhaustion, the utter discomfort and the feeling of despair. I didn’t want to live in darkness when there was light. I continued avoiding the “For Disabled " seats on the bus and kept on caring for my patients as a critical care nurse.
A Brain Pacemaker
Then I heard about a newly developed surgical procedure — deep brain stimulation — bascially, placement of a brain pacemaker.
The Activa Therapy or DBS System consists of three parts: leads, extensions and the neurostimulator or IPG. Sometimes called a “brain pacemaker,” it produces the electrical pulses needed for stimulation. These electrical pulses are delivered through the extension and the lead to the targeted areas in the brain, which diminishes abnormal movements. The neurostimulator pulses can be adjusted non-invasively by a clinician using a programmer to check or change the settings.
Surprisingly, I had been deemed a candidate for DBS in 1998 when it was still considered experimental, but I was responsive to the medication I was on at the time. Plus I wasn't too thrilled about having my brain opened up by someone else. I had always viewed my brain as an intellectual gift and thus did not want any prying hands inside it. I was hesitant in making the decision, fearing the gravity of brain surgery and having to constantly explain the wires in my head to employers.
Ultimately, though, I opted for the procedure and underwent DBS in December of 2004. After much fine-tunning of the neurostimulator, patience, and a dedicated team, I began a new life educating others with the dystonia and bringing media awareness to the unknown disorder that is dystonia.
Beka Serdans is a critical care nurse of 30 years who has blogged for Medscape Nurses about issues related to bedside critical care as well as larger healthcare concerns. She holds an MS degree and Adult NP license, and works as an active private duty clinical bedside nurse in New York City. She also runs a nonprofit organization for dystonia, as well as a dystonia Facebook page. Beka has been featured in multiple media venues including The Oz Radio Show-Oprah, NBC, CBS, Nursing /Neurology/Disability magazines.
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