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The Eye of the Beholder

wilsons

It had been nearly six years since the tremers had started. Mary first noticed them her freshman year in college, but had dismissed it as fatigue. College had never being easy, and it seemed she spent much of her time in the library or in class. What she ate, when she ate, was admittedly not very nutritious. However, since beginning graduate school, she had begun eating, if not a balanced diet, at least a better one. She even began to take a multivitamin at the request of her boyfriend Eric. Eric was a star athlete in high school and college. Now in graduate school, he had maintained his healthy lifestyle. The two had actually met the first day of advanced behavior modification class and had become fast friends. Now, in the final semester before graduation, their daily conversations changed from grades and friends to jobs and a life together.

Mary’s parents, Bert and Monica Westcott, were very impressed with Eric and with the effect he seemed to have on their daughter. Mary had struggled in college, but seemed to hit her stride in graduate school, particularly after she began dating Eric. His no-nonsense attitude toward his studies and his genuine affection toward Mary brought her out of her shell and helped focus her. The couple had shared their plans of a life together with both families and it was generally agreed they made a wonderful couple.

Then the tremors returned. Annoying in college, now they were embarrassing. They were not continuous, but they seem to manifest at the worst possible times. She also noticed that on occasion she had difficulty pronouncing some words. It is not that she did not know the word, or that she could not say it in her mind, but when she opened her mouth, what came out was sometimes not exactly what she intended. Eric was the one who had noticed that, on occasion, Mary seemed unsteady. The first time he noticed, they were at a nightclub when he and Mary were celebrating their one-year anniversary as a couple. She had finished her third glass of champagne, and as the couple danced a slow waltz, she seemed dizzy, but he attributed it to the fact that Mary seldom drank alcohol.

The second time he noticed it was, when she was walking out to his car after class and she seemed to be leaning to one side. He asked if she felt okay, and she replied that she did have a bad headache. Over the next few weeks, Eric noticed what appeared to be mood swings in Mary. One minute she would be happy, the next upset or angry. To be honest, they were both feeling the pressure of the impending graduation, and life after graduate school. So many things were still up in the air; where they would live, what they would do. It was not long after that Mary began to feel depressed.

Having studied psychology for four years as an undergraduate and now about to graduate with a masters in psychology, Mary understood the symptoms as psychological. She tried to put herself in the place of the therapist. If someone came to me with these symptoms what would I think? I would think that they were depressed, and that some aspect of their interpersonal life was so uncomfortable that they were having difficulty dealing with it. At this point, Mary sat back in her chair and began to examine her life. She could find no reason to be depressed. She was in a relationship with a man she loved, everything was wonderful with her parents, and they had their entire lives ahead of them. There was no reason to be depressed. Yet if she were honest, she felt depressed more days than not.

There was an old saying that medical students soon develop the symptoms of every disease they study. This is also true of psychology students who begin to analyze and diagnose themselves with any number of mental disorders. Mary was no exception.The mood swings, the depression, these symptoms suggested bipolar disorder, and the more she thought about it, the more sense it made. Reaching for her diagnostic and statistical manual she flips to the section on mood disorders, then to bipolar. She was about the right age, and the symptoms seem to fit. Most of them anyway. She picked up her phone, called the campus health center, and requested an appointment. When asked if it were urgent, she replied “not really”.

The campus health center was uncharacteristically busy, and Mary was told an appointment could be arranged with both a therapist and the nurse in about a week. Spring was hay fever season, and the clinic was inundated with sneezing students with watery eyes and stuffy heads. When Mary’s appointment came, the counselor agreed that depression was the most likely diagnosis, and that bipolar disorder may fit as well.

The nurse practitioner gave Mary a prescription for Zoloft, and Mary expected some relief within a few weeks. It was the final week before graduation, and both Mary and Eric were very busy. Although Mary had been taking the antidepressant now for over three weeks, her symptoms had not gotten any better. She still feel depressed, the mood swings were a little better, but as she sat staring at her flashcards for the state’s licensing board exam, she realized she was unable to concentrate. In frustration, she threw the cards against the wall, and sat with her head in her hands sobbing. Why was she so depressed? Why was this happening now? She had been so happy. This made no sense.

She reached for the phone and, instead of calling her mother or even Eric, she dialed the number of an old friend, a former professor whose courses she had taken as an undergraduate. It would be good just to get another opinion; besides, Dr. Martino had been her favorite professor because of his ability to make the boring classes exciting. As a clinical psychologist, one who specialized in depressive disorders, he may have some insights.

The woman who answered the phone at the humanities department informed Mary that Dr. Martino had left 2 years ago, and that she had no information on where he might be now. That was that, she thought to herself. Then she remembered Facebook. A quick search of his name revealed a page, and Mary messaged him with her email and cell number. The next day Dr. Martino called.

He had taken a position at a medical school teaching behavioral medicine and was more than a little surprised to hear from Mary after so long. She quickly explained why she had contacted him, described her symptoms, the medication, and what she herself believed the problem to be. Dr. Martino asked if it would be okay for him to share her story with his boss. He promised to call back the next day. Around 4:30 in the afternoon, after Mary had waited all day for his call, Dr. Martino phoned back. He had some questions. He explained to Mary that he had spent his lunch hour with the head of his department, James Irvine, PhD, an epidemiologist.

Dr. Irving had come to Dr. Martino’s office and Mary was asked if it would be okay for him to put her on speakerphone? She quickly agreed, and Dr. Irvine introduced himself. He had been a community psychologist for a number of years, and had grown bored with the field of psychology. After teaching for several years, he had return to graduate school, and pursued an advanced degree in public health before turning his attention to chronic disease epidemiology. After working in the field for a few years, he returned to his first love, teaching, and had become the chairperson for the behavioral health department where he had first met Dr. Martino. The two had many personality quirks in common they found, particularly their love of solving puzzles.

Dr. Irving asked Mary if she had experienced any abdominal pain or vomiting recently. The answer came back “no”. Then she added that when the tremors first started back in high school, she used to get nauseous in the morning. “Tremors” both doctors said aloud. Tremors indicated a neurological issue. The next questions came from Dr. Irvine, and his voice sounded more urgent. In the last six months, had she had difficulty swallowing? Had she felt unsteady? Mary thought for a moment before replying “yes”. Dr. Irving asked Mary “when you had the abdominal pain, where was it? What did you do about it?” Mary thought for a moment and, thinking about her anatomy and physiology class, she said, “lower right quadrant. I stopped exercising for a few days and it went away.” The next question seemed very odd to Mary. When was her last eye appointment? Mary did not need glasses, and had never had difficulties with her eyes. She remembers going in junior high school but not since. “Is this important?” Her eyes did not bother her. “How could a person’s eyes have anything to do with depression? Or for that matter, a stomachache?” She thought to herself.

Dr. Irving asked Mary if she had a hand mirror, a pocket mirror, maybe a compact. Mary said that she did. Dr. Irving asked Mary to “look at your eyes, and see if they look unusual”. Mary responded that they looked the way they always did. Dr. Irving then asked her to look closely, particularly in the area between the iris and the whites. Did she notice anything peculiar? At first, Mary said everything looked the way it always had. Then there was a pause and she said, “maybe there was something…odd.” Dr. Irving asked Mary what she thought was odd, although she felt as if he already knew. “There are very small rings around my Irises. I never noticed those before.”

What color are your eyes Dr. Irving asked? Mary replied “Blue.” “Are the rings a light brownish-yellow color?” He asked. Mary replied they were. Dr. Irving explained that although she would need to see a specialist, he suspected that she did not have depression or bipolar disorder. She had Wilson’s Disease. Dr. Irving explained that in normal people, the body gets rid of excess copper. A build up of copper can cause abdominal pain, particularly in the area Mary described. Once the liver can no longer absorb and store the copper, it is excreted into the bloodstream and deposits form in other parts of the body, particularly the brain.

Aside from liver symptoms, including hepatitis or inflammation, jaundice, nausea and vomiting, Wilson’s disease also presents with psychological symptoms including mood swings, depression, and an unsteady gait. One of the most often recognized presenting symptoms of Wilson’s Disease was the presence of Kayser-Fleischer Rings, the tiny rings that Mary could see around her irises.

Mary made an appointment with a specialist and began treatment for Wilson’s disease. Penicillamine was prescribed to help remove the copper from the body and she was advised to supplement her daily vitamin with zinc tablets. Zinc works by blocking the absorption of copper from food. Mary met with the dietitian later that day and began a low copper diet.

A year later, Mary is off the chelating medications. She has adjusted to the diet, more or less, and although she is unhappy at having to avoid chocolate and shellfish (especially lobster), she has had no trouble avoiding liver or beans. Mary and Eric are now married and living back in their hometown. Mary works in private practice with couples, and Eric has taken a job as clinician at a local school district. Mary’s prognosis is excellent, and all of her symptoms have subsided.

was first described in 1912 and is caused by an accumulation of copper in the body. It is caused by a gene on chromosome 13 that does not function properly. Wilson’s Disease is a genetic disorder, and is very rare; even if both parents carry the gene, there is only a 25% chance that a child will have Wilson’s. It is so rare that only one out of 30,000 people will have Wilson’s Disease.

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