Cynthia, 14, was as perplexed as everybody else when she found herself making noises in her throat that she couldn’t control. Different parts of her body twitched from time to time, and she couldn’t control that, either. She started having trouble breathing, she had frequent anxiety attacks -- though she didn’t know there was a name for them -- and was uncomfortable being away from home. It would be nearly twenty years before she was correctly diagnosed with Tourette syndrome, a neurological disorder characterized by involuntary vocal and physical tics.
Going to school was awful, Cynthia reports. “I was the butt of a lot of unkind remarks in school. Kids made fun of me, twitched and made noises in imitation of me. Some teachers were not too kind either.” She was considered a disruptive pupil because of the noises she made in class.
Her mother took Cynthia to the doctor, who said, “Oh, she’s nervous. I’ll put her on tranquilizers.” This treatment did not work.
Despite growing up in a loving family, Cynthia notes that the adults in her life sometimes found her condition a challenge from the beginning.
“My father, who died later the year it all started, died still believing that I could stop it if I wanted to. My mother believed me and was supportive but I would say, ‘Mommy, help me,’ and she wouldn’t know what to do. There really wasn’t anything she could do.”
Cynthia continues, “My grandmother was mostly supportive but still believed that I could stop it if I tried really hard. At one point when I was about 16 and my mother was a widow, she was dating and not finding a husband -- and she wanted a husband. My grandmother said to me, ‘Who’s going to marry her with a daughter with problems like yours? Work hard on getting over it. Let your mother have a chance at happiness.’ My grandmother loved me and I loved her very much, but she was defending her own child.”
The school psychologist recommended that Cynthia see a psychologist. After two years of twice-a-week counseling, Cynthia had only gotten worse. Then the school psychologist recommended that she see a psychiatrist instead because the psychiatrist was an MD and Cynthia’s problems clearly had physical manifestations. This experience did not help, either.
“I was sent into psychotherapy with a Freudian analyst and I saw him twice a week . . . . He even went so far as to venture to say that I was imitating the noises I heard from my parents’ bedroom. And when I said that I had never heard any noises from my parents’ bedroom – my father was by then dead, but that during his lifetime I had never heard any such thing -- the psychiatrist refused to accept my word for it, and said I was blocking memories and repressing, and continued to treat me psychiatrically.”
Doctor after doctor insisted that Cynthia had a psychiatric problem that required talk therapy in combination with a variety of drugs which did nothing to improve her condition. For much of twenty years, under doctors’ orders, she spent hours each week “on the couch,” in a vain attempt to talk her way out of what no one yet realized was a neurological condition.
Was she ultimately set on the track to an accurate diagnosis because of the insight of a very perceptive physician? No. A surprising little mystery surrounds the first link that led her to learn what her condition was. “One day a booklet from the Tourette Syndrome Association arrived in the mail and I read it. And I said, ‘My God, that’s me! That’s what I have!’ I called them up and I said, ‘You’ve saved my life, but who do I have to thank?’”
They checked their records, and it turns out that someone had sent them a letter, pretending to be Cynthia, asking to be sent information about Tourette syndrome. To this day, Cynthia suspects that a woman she had become friends with wrote the letter, but doesn’t know for sure. The organization referred her to a specialist, who confirmed the diagnosis.
While the specialist prescribed medicine to help her, Cynthia felt that enduring the side effects was worse than living with Tourette syndrome, so for a number of years, she declined to take it. Still, just having a diagnosis was a relief. “At least now I know what I have -- what’s wrong with me. I can face people and say, ‘Yes, I have a medical condition,’ instead of, ‘Yes, I’m sick in the head.”
Years later, another doctor persuaded her to give the drug another try. After a week or so, the troublesome side effects subsided, and Cynthia decided that the benefits outweighed the downsides. For many years now, she has been almost completely free of symptoms of Tourette syndrome.
How could a dozen doctors be wrong over 20 years? How is such a thing possible? Dr. Jerome Groopman, author of How Doctors Think, suggests that doctors may fall prey to “diagnosis momentum.” Once a diagnosis has been established, it is as if it has been set in concrete and the only remaining question is, “What treatment should be given?” and not, “Are we sure the patient really has this condition?”
If you do not get better after receiving treatment that is expected to solve a problem you have, one possible reason is that you may be facing this sort of tunnel vision. One solution may be to ask another doctor to diagnose you -- without telling her what the first doctor said. It may be a challenge to pull this off because it’s possible that the second doctor will simply call the first one. But it may be worth a try. To avoid having the second doctor order tests that you have already had recently, it would be reasonable to bring your test results with you and to provide any that the doctor requests.
A common theme runs through the stories of people who are misdiagnosed for extended periods. They typically say, “Nobody listened to me.” Or, “No one believed me.” If you find that your symptoms -- or your experiences of your illness -- are being ignored, it may be best to find another doctor.