| I Heard You Like A Challenge |
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My private number at the office (The Neuropsychology Unit at Shaare Zedek Medical Center in Jerusalem) rang. Now I am quite reachable, most people "have my number" (both concretely and metaphorically), and I don't answer phones during work hours (or I'd just be answering phones all day and not working). The exception to the last point is my "nuclear" family. _option_option_option_option_option_option
So I answered the phone, thinking it was a family member. It wasn't. Instead it was a medical doctor who had convinced the hospital switchboard operator that this was indeed a neuropsychological Emergency (with a capital "E"), and she needed to let the call go through immediately. As I have said before, there really aren't any neuropsychological emergencies. Yes, there are such neurological and psychiatric cases, but those are not in my bailiwick. The doc apologized profusely upon hearing my worried "hello," and then my very cool "yes." But he really had an emergency on his hands, and then said the magic words, "I heard you like a challenge." We then arranged a time to talk. Okay, I'm "all ears," so what is the challenge? His patient was a 54-year-old woman who had been diagnosed as having neurofibromatosis (NF2) at age 14, and over the past 40 years had undergone many brain surgeries to remove the continually growing tumors. These lifesaving surgeries (as the tumors were space occupying and threatened her life and cognitive abilities) were not without their own complications. Today, she was hemi-paretic (paralyzed on one side of her body), deaf, and severely vision-impaired. "But that's not the emergency," he said. "She has been living with her widowed father, and now he is unable to care for himself and for her, and is going into a senior citizens' residence/convalescent hospital." I knew more information was coming and just waited quietly at my end of the conversation. "Our problem is that Social Services doesn't know where to place Bracha*, and that maybe a neuropsychological evaluation could give us information. The emergency is that there is now a place for her father and we can't hold it open for more than a week - and we have no spot for Bracha! He was right. He had ignited the "challenge area of my brain," and certainly gotten my attention. In preparation for her visit, I did some research. What is Neurofibromatosis? To begin it is a synonym for Von Recklinghausen's Disease, a nerve disorder often leading to tumors on the nerves and now divided in two genetically different forms: NF1 and NF2, with different clinical features. It was first described in 1768 by Mark Akenside (1721-1770), later in 1793 by Wilhelm Gottlieb Tilesius von Tilenau (1769-1857), in 1849 by Professor Robert William Smith (1807-1873) of the University of Dublin, and by Rudolf Virchow in 1863. Recklinghausen's detailed description was of the autopsy findings in a 55-year-old female and a 47-year-old male. Some of you may have read or heard about (or seen the play or movie) Joseph Carey Merrick (1862-1890), known as "The Elephant Man." Leading authorities at the time stated he suffered from elephantiasis. This is a disorder of the lymphatic system that causes parts of the body to swell to a huge size. In 1976 a doctor postulated that Merrick suffered from neurofibromatosis, a rare disorder that causes tumors to grow on the nervous system. Photos of Merrick, however, do not show the brown skin spots characteristic of the disorder. Also, his disfigurement came not from tumors but from bone and skin overgrowth. Unfortunately, even today people still (wrongly) call neurofibromatosis the "Elephant Man disease." The 1980 movie portrayed how at first a doctor and then others (including royalty) came to see the intelligent, sensitive man behind the grotesque deformities. The universal message of tolerance of difference found in Joseph Merrick's story touched and moved those who saw it. But what most people don't know is that it took 100 years for doctors to correctly identify his medical condition. It wasn't until 1996 that the answer to the mystery of what affected Merrick was found. A radiologist, Amita Sharma of the U. S. National Institutes of Health, examined x-rays and CT scans of Merrick's skeleton (kept at the Royal London Hospital since his death). Dr. Sharma determined that Merrick had Proteus syndrome, an extremely rare disorder that was only identified in 1979. What is Neurofibromatosis? The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities, such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors or bone abnormalities, and/or a parent, sibling or child with NF1. Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a child is about 10 years old. NF2 is less common. NF2 is characterized by bilateral (occurring on both sides of the body) tumors on the eighth cranial nerve. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for bilateral eighth nerve tumors, and similar signs and symptoms in a parent, sibling or child. Affected individuals may notice hearing loss as early as the teen years. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness caused by pressure from the tumors may also occur. NF2 is the type that Bracha was diagnosed as having. Is there any treatment? Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers. In the rare instances when tumors become malignant (three to five percent of all cases) treatment may include surgery, radiation or chemotherapy. For NF2, improved diagnostic technologies (such as MRI) can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Other options include partial removal of tumors, radiation and, if the tumors are not progressing rapidly, the conservative approach of watchful waiting. Genetic testing is available for families with documented cases of NF1 and NF2. What is the prognosis? In most cases, symptoms of NF1 are mild, and patients live normal and productive lives. In some cases, however, NF1 can be severely debilitating. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life threatening. So when Bracha arrived, I thought I was prepared. I had typed questions to some of the basic tests, and had enlarged them as much as possible so as to make reading and communicating with her easier. I had planned on using the computer to write to her, and she would answer me directly, as she had no problem speaking. However, a bit of a problem was anticipated as a result of the possible facial paralysis. What I was not prepared for was Bracha herself. As I noted before, she was 54 years old. She was also highly intelligent, well-read, a ballet aficionado and a host of other things that came to light in the hour she interviewed me,and told me about some of her life experiences! The "interview" began with her asking me questions about NF2 and "grading" my answers. I "passed," she told me, because I was interested in learning and had obviously done my homework - and most important, I had begun the visit by telling her that she was the expert on her case. The two and a half hours with this fascinating woman flew by. At its conclusion, I told her I'd have to let all the information she gave me "settle" in, and I'd be in touch with her through her father the next day. All night I thought about her, and the dilemma of what place to recommend for her. In the morning, I came up with a thought. I called the doc, and asked, "Why not place her with her father in the same facility?" I went on: "She is not 'culturally deaf/hearing /physically impaired' as a result of her motor problems; she doesn't know and can't learn how to Sign (Israeli Sign Language); she was only recently visually impaired; and the paralyses were also relatively new conditions. So she probably won't fit in with a group residential arrangement with others who have had a lifetime to prepare." There was silence on the other end of the phone. Among the ideas being considered was a residence for the visually impaired; the deaf and physically handicapped were descriptive of the conditions Bracha had. No one had suggested the senior citizens' option. Finally, "Why separate her from her dad? As a bonus, the others in the senior citizens' home would love having such a 'young,' stimulating person around." "We'll do it! See?" he said, "I knew you'd like the challenge." (*Not her real name) Further Research: Wikipedia -Volker Paech M.D., and Claudio Crisci Originally published in the Jewish Press on May 30, 2007. |
