Dealing with Disorder: Stories from TCC’s Huntington’s Disease Unit

It is easy to take the relationship between body and mind for granted. We wake up in the morning, kick the alarm clock across the room, and pull the sheets back over our heads with little thought. There are few people who would simultaneously consider the neural activity that precipitated their habitual movements while burrowing farther under the covers for those last fleeting minutes of rest. This easily forgotten relationship is at the center of Huntington’s disease, one of the most physically and emotionally devastating genetic disorders. Terence Cardinal Cooke Medical Center has a well-reputed program for HD patients ranging from 20 to 70 years old with need for special care. Raphy Rosen, a CSSR-TCC intern, recently spent time in the Huntington’s disease unit of TCC speaking with patients and their loved ones. Here he brings us powerful stories of the battle between an unsympathetic disease and the people living with it.

9- Huntington’s Disease

The single most inspiring experience that I have had at TCC was on June 14^th– when TCC ran a Huntington’s Disease orientation for NYMC students. TCC is renowned for its unique care for HD patients, and it has one of the biggest HD units in the country. For those who are unfamiliar with HD, it is an autosomal dominant genetic disorder that usually shows symptoms in a patient’s late 30s-40s. It is a disease of the Central Nervous System and interferes with a person’s gait, speech and in its later stages, cognitive functioning and swallowing. As the medical director described, it results in a person with a fairly intact mind being trapped inside a completely non-responsive body. Patients will often develop Chorea, which means that the muscles begin to jerk uncontrollably to the point that they are completely unable to care for themselves or perform even the most basic activities of daily life. In fact, HD patients burn far more calories than an unaffected individual since their muscles are in constant motion. As of now, there are drugs that can briefly mitigate some of the symptoms, but there is no cure.

The horrifying thing about HD is that it strikes right in the middle of life. As part of the orientation, Dr. Fran Brown (name changed to protect privacy), one of the newer HD patients on the floor, came to speak to the students. She had been a physician until just recently, when her muscles became too jerky and impaired to continue her practice. Since HD is a genetic disorder, she knew for a long time that she had a 50% chance of having the disease since her father was affected. She described the isolation her father experienced. People would stare at him in the elevator, the street, the office. Fran was petrified that she would experience the same thing, so she lied to everyone she knew about the disease when she began to exhibit symptoms. She told them she had seizures, strokes, psychiatric disorders, anything so that they would not know the truth. In fact, Dr. Brown related that during the earlier stages of the symptoms, she took to bars in order to make her small involuntary motions appear to be the results of drinking and not her disease. In fact, she met her current boyfriend in one of these bars, to whom she eventually told the truth. He has stuck by her despite her deteriorating condition and visits her on the unit often. Fran elected not to have children since she did not want to risk passing on this devastating disease to them. Instead of having her own children, Fran chose pediatric medicine as a way of fulfilling her love for children without having her own. Fran described how she secretly hoped against all rationality that by practicing as a physician, she could somehow protect herself from the onset of the disease. Fran was forced to enter an institution since she had numerous DUIs since the police assumed that her swerving car and failed straight-line test were due to drinking. Since then, she has taken advantage of the trips and activities available on the HD ward, but of course, her existence is a pale shadow of her former rich life.

Perhaps the most shocking realization was the extent to which Fran was in denial about her future prognosis. After we heard during the director’s lecture that there is no known cure, Fran described the cocktail of miracle drugs that she was receiving, and how much better her symptoms were. She told us that she would soon be going back to live in her apartment with her boyfriend. After she had left, the social worker told us that her hopes are mere illusions. The drugs she receives reduce her Chorea slightly, but there is no chance whatsoever that she would ever return to society. The staff allow her to keep up her dreams since the ability to hope is really all she has left at this point. It is incredible that dealing with such a disease could force an educated physician, with full knowledge of the details of her disease, to convince herself of a fantastic vision of the future.

Believe it or not, Fran’s monologue was only the second most heart-rending story of the orientation. Later, we heard from Carl Ruiz, the husband of Laura Ruiz, who is a late-stage HD patient. Carl can be described as nothing short of a saint. He described the story of how he met his wife. They were friendly for many years before they were married. He knew that her father had died of HD but she seemed unaffected, so he was hopeful she was not a carrier. Then, less than three months after their wedding, she was diagnosed with HD. Within a year, she was wheelchair bound. Carl described Laura’s degenerating condition. At first, she only shook slightly and needed a walker to get around. After some time, however, her movements were so jerky that she could not shower or toilet herself. Carl would try to clean his wife only to be struck repeatedly in the face by his wife’s violent muscle spasms. Laura would apologize, despite her obvious lack of malicious intent, and Carl would laugh it off – “You’ve been waiting to do that for ages, haven’t you?” he would quip. Carl spent eight years struggling to care for her in their home. His daily routine involved the following: getting her ready in the morning, going to work, coming home around lunch to feed her and take her to the bathroom, going back to work, coming home around 4 to take her to the bathroom and feed her dinner, going back to work, coming home around 9, getting her ready for bed and falling into his bed emotionally and physically exhausted. Obviously, having children was out of the question for Carl. In addition, his career as an attorney was in shambles since he needed to refer out any clients that required a serious time commitment. Eventually, after losing 25 pounds due to stress and exhaustion, Laura convinced him that he needed to place her in an extended-care facility. Carl told us that he recently saw a picture of them on their honeymoon when his wife was not yet symptomatic and was shocked by it. Crying, he said that he could not even remember the days when his wife was healthy.

Now that Laura is a permanent resident at TCC, Carl visits her at least four times a week, and every time Laura’s first question for him is “When are you coming again?” The social worker informed us that she is petrified that Carl would abandon her, and, based on her family history, she has reason for concern. When Laura’s mother discovered that her father had HD, she immediately took her kids out of state and left him to fend for himself. He died alone and abandoned. Knowing this fear, Carl does everything in his power to show Laura that she will never be alone.

At this point, Laura is essentially non-verbal and can simply nod and shake her head. We were given the chance to visit with her and to see the shell of the formerly vibrant person that remained. She stared blankly at us as we tried to speak to her, and seemed to hardly understand us at all. That she was formerly a loving wife and superstar ICU nurse was tragically totally indiscernible to us.

The other fascinating discussion during the HD orientation revolved around Advanced Directives (ADs). Advanced directives are wishes that a patient has about his or her future health care that are hopefully specified while still of sound mind. For example, a person can decide while relatively intact that if they were to fall into a persistent vegetative state that they would not want artificial nutrition or resuscitation (DNR). However, the problem is that a person really has no idea what their future condition will feel like, so they are making decisions somewhat blindly in advance. A person who decides while they are mentally competent that they want to be kept alive as long as possible does not appreciate the amount of pain and disorientation they will experience after their fourth operation or their sixth round of futile chemotherapy. If the patient was able to communicate, they might make a very different decision due to their new condition, but since we only have the patient’s prediction from six months earlier, we are forced to follow what might be very out-of-date wishes. This situation demonstrates the value of a Health Care Proxy (HCP). Whether this is a friend or family member, they are able to adapt to the changes in the patient’s condition and dictate what they think the patient would have wanted in varying circumstances. The problem with HD patients is that they often choose family members to be HCP, only to have that family member eventually be diagnosed with the same condition and be equally unable to render decisions.

While the general academic questions (symptoms, treatments, ADs, HCP etc) about HD were interesting, by far the most powerful and lasting impression that I will carry were the personal narratives provided by those who are intimately affected by the disease.

7- Huntington’s Disease

The single most inspiring experience that I have had at TCC was on June 14^th– when TCC ran a Huntington’s Disease orientation for NYMC students. TCC is renowned for its unique care for HD patients, and it has one of the biggest HD units in the country. For those who are unfamiliar with HD, it is an autosomal dominant genetic disorder that usually shows symptoms in a patient’s late 30s-40s. It is a disease of the Central Nervous System and interferes with a person’s gait, speech and in its later stages, cognitive functioning and swallowing. As the medical director described, it results in a person with a fairly intact mind being trapped inside a completely non-responsive body. Patients will often develop Chorea, which means that the muscles begin to jerk uncontrollably to the point that they are completely unable to care for themselves or perform even the most basic activities of daily life. In fact, HD patients burn far more calories than an unaffected individual since their muscles are in constant motion. As of now, there are drugs that can briefly mitigate some of the symptoms, but there is no cure.

The horrifying thing about HD is that it strikes smack in the middle of life. As part of the orientation, Dr. Fran Brown (name changed to protect privacy), one of the newer HD patients on the floor, came to speak to the students. She had been a physician until just recently, when her muscles became too jerky and impaired to continue her practice. Since HD is a genetic disorder, she knew for a long time that she had a 50% chance of having the disease since her father was affected. She described the isolation her father experienced. People would stare at him in the elevator, the street, the office. Fran was petrified that she would experience the same thing, so she lied to everyone she knew about the disease when she began to exhibit symptoms. She told them she had seizures, strokes, psychiatric disorders, anything so that they would not know the truth. In fact, Dr. Brown related that during the earlier stages of the symptoms, she took to bars in order to make her small involuntary motions appear to be the results of drinking and not her disease. In fact, she met her current boyfriend in one of these bars, to whom she eventually told the truth. He has stuck by her despite her deteriorating condition and visits her on the unit often. Fran elected not to have children since she did not want to risk passing on this devastating disease to them. Instead of having her own children, Fran chose pediatric medicine as a way of fulfilling her love for children without having her own. Fran described how she secretly hoped against all rationality that by practicing as a physician, she could somehow protect herself from the onset of the disease. Fran was forced to enter an institution since she had numerous DUIs since the police assumed that her swerving car and failed straight-line test were due to drinking. Since then, she has taken advantage of the trips and activities available on the HD ward, but of course, her existence is a pale shadow of her former rich life.

Perhaps the most shocking realization was the extent to which Fran was in denial about her future prognosis. After we heard during the director’s lecture that there is no known cure, Fran described the cocktail of miracle drugs that she was receiving, and how much better her symptoms were. She told us that she would soon be going back to live in her apartment with her boyfriend. After she had left, the social worker told us that her hopes are mere illusions. The drugs she receives reduce her Chorea slightly, but there is no chance whatsoever that she would ever return to society. The staff allow her to keep up her dreams since the ability to hope is really all she has left at this point. It is incredible that dealing with such a disease can force an educated physician, with full knowledge of the details of her disease, to convince herself of a fantastic vision of the future.

Believe it or not, Fran’s monologue was only the second most heart-rending story of the orientation. Later, we heard from Carl Ruiz, the husband of Laura Ruiz, who is a late-stage HD patient. Carl can be described as nothing short of a saint. He described the story of how he met his wife. They were friendly for many years before they were married. He knew that her father had died of HD but she seemed unaffected, so he was hopeful she was not a carrier. Then, less than three months after their wedding, she was diagnosed with HD. Within a year, she was wheelchair bound. Carl described Laura’s degenerating condition. At first, she only shook slightly and needed a walker to get around. After some time, however, her movements were so jerky that she could not shower or toilet herself. Carl would try to clean his wife only to be struck repeatedly in the face by his wife’s violent muscle spasms. Laura would apologize, despite her obvious lack of malicious intent, and Carl would laugh it off – “You’ve been waiting to do that for ages, haven’t you?” he would quip. Carl spent eight years struggling to care for her in their home. His daily routine involved the following: getting her ready in the morning, going to work, coming home around lunch to feed her and take her to the bathroom, going back to work, coming home around 4 to take her to the bathroom and feed her dinner, going back to work, coming home around 9, getting her ready for bed and falling into his bed emotionally and physically exhausted. Obviously, having children was out of the question for Carl. In addition, his career as an attorney was in shambles since he needed to refer out any clients that required a serious time commitment. Eventually, after losing 25 pounds due to stress and exhaustion, Laura convinced him that he needed to place her in an extended-care facility. Carl told us that he recently saw a picture of them on their honeymoon when his wife was not yet symptomatic and was shocked by it. Crying, he said that he could not even remember the days when his wife was healthy.

Now that Laura is a permanent resident at TCC, Carl visits her at least four times a week, and every time Laura’s first question for him is “When are you coming again?” The social worker informed us that she is petrified that Carl would abandon her, and, based on her family history, she has reason for concern. When Laura’s mother discovered that her father had HD, she immediately took her kids out of state and left him to fend for himself. He died alone and abandoned. Knowing this fear, Carl does everything in his power to show Laura that she will never be alone.

At this point, Laura is essentially non-verbal and can simply nod and shake her head. We were given the chance to visit with her and to see the shell of the formerly vibrant person that remained. She stared blankly at us as we tried to speak to her, and seemed to hardly understand us at all. That she was formerly a loving wife and superstar ICU nurse was tragically totally indiscernible to us.

The other fascinating discussion during the HD orientation revolved around Advanced Directives (ADs). Advanced directives are wishes that a patient has about his or her future health care that are hopefully specified while still of sound mind. For example, a person can decide while relatively intact that if they were to fall into a persistent vegetative state that they would not want artificial nutrition or resuscitation (DNR). However, the problem is that a person really has no idea what their future condition will feel like, so they are making decisions somewhat blindly in advance. A person who decides while they are mentally competent that they want to be kept alive as long as possible does not appreciate the amount of pain and disorientation they will experience after their fourth operation or their sixth round of futile chemotherapy. If the patient was able to communicate, they might make a very different decision due to their new condition, but since we only have the patient’s prediction from six months earlier, we are forced to follow what might be very out-of-date wishes. This situation demonstrates the value of a Health Care Proxy (HCP). Whether this is a friend or family member, they are able to adapt to the changes in the patient’s condition and dictate what they think the patient would have wanted in varying circumstances. The problem with HD patients is that they often choose family members to be HCP, only to have that family member eventually be diagnosed with the same condition and be equally unable to render decisions.

While the general academic questions (symptoms, treatments, ADs, HCP etc) about HD were interesting, by far the most powerful and lasting impression that I will carry were the personal narratives provided by those who are intimately affected by the disease.