All posts in HD in the Media

The Inheritance

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Image credit: The Inheritance Documentary

The Inheritance (2014) is a documentary that highlights the impacts of Huntington’s disease (HD) across several generations of a family. The disease personally affects New Zealander and film creator Bridget Lyon, who uses the film’s platform to explore her family history of Huntington’s disease.

Bridget first brings us back to 1814 when a woman named Margaret was born. She gave birth to seven children and was soon after committed to the Aberdeen Lunatic Asylum in the United Kingdom. The youngest child, James, moved to New Zealand and soon developed symptoms typical of Huntington’s disease. The disease continued to travel through the family, moving next to his son William, who then passed it on to Mavis and, finally, Bridget’s mother, Judy.

Once Bridget catches us up to the present, she explores the various damaging effects of the disease. She describes Huntington’s disease as the “worst known disease to man.” Bridget explains the perceptions of the disease within families, noting that her grandmother was often confused for an alcoholic. It wasn’t until Judy had three children did she learn, finally, what disease had afflicted the Bridget’s family for so many generations. Through scientific advancement and the availability of genetic testing, identifying and diagnosing Huntington’s disease became much easier.

While stigma is often a major problem in the HD community, Bridget noted that her parents were open about the disease. They were not limited by its presence, taking their children on many adventures throughout Bridget’s childhood.

The Inheritance does an excellent job exploring the science of the disease as well. Many prominent scientists and activists such as HDBuzz co-founder Dr. Ed Wild and South African scientific researcher Dr. Michael Hayden are featured in interviews. Bridget and these experts explain how the disease gene was located in 1993 near the top of chromosome 4. This discovery allowed individuals like Judy to get tested for the disease.

Furthermore, the film describes the impacts of HD on the brain, noting the deterioration of the basal ganglia. Researcher Anthony Hannah explains how the cerebral cortex is one of the most evolved parts of the brain and this region is one of the most impacted by HD. The Inheritance is thorough in its description of the effects Huntington’s disease has on the brain, using multiple scientific experts to explain the disease process in easy to understand terms.

Using her life story, the narrator Bridget describes what it is like to make life decisions regarding the disease. She discusses her own thought process regarding the decision to test. She even describes the very personal decision of attempting to have another child using pre-implantation genetic diagnosis via in vitro fertilization. This process allows a lab technician to test for embryos without the mutant huntingtin gene. Those embryos are then implanted in the womb. Bridget and her husband Jeff successfully have a child who will never have Huntington’s disease.

Bridget outlines the devastation the disease had on previous generations, but also the impacts it has on the current and future ones. Bridget has several siblings who are at risk for the disease. She uses the film to highlight various perspectives on genetic testing, highlighting her siblings diverse set of opinions. Each sibling has a different outlook on genetic testing and various methods on how they will cope with the disease, whether they have it or one of their siblings does.

Overall, The Inheritance is meticulous in its description of the Huntington’s disease experience. The information this film presents is well researched and verified by a variety of Huntington’s disease experts. Using her personal narrative, film creator Bridget Lyon accurately portrays the challenges and hopes of living in a Huntington’s disease family.

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Madame Secretary

Madam Secretary; Season 2, Episode 6; Catch and Release

Episode Recap

Madam Secretary is a fictional television drama that follows the work of Elizabeth McCord, the United States’ Secretary of State. In this particular episode, the State Department learns that a new leader of ISIS has released a video showing the beheading of an American aid worker. After some research into the “Jihadi Judd” character who committed the act, Secretary McCord learns that not only is this leader an American, but the son of a State Department Secretary employee, Judith Fanning.

Secretary McCord calls Judith Fanning into her office after learning that her son, Adam Fanning, grew up in Cairo and learned Arabic in an American international school. During his time in college, he became radicalized. The mother claims that she has not been in contact with her son for over a year and begs the Secretary for his safe return.

However, after further research, Secretary McCord realizes that there is more to the story.

Transcript

Nadine [State Department Employee]: The husband’s death complicates things.

Secretary McCord: How? I thought it was a car accident?

Nadine: I remembered the circumstances when I reviewed her file. He lost control of the car due to a seizure caused by Huntington’s disease. He was barely 43 years old and he had been misdiagnosed for almost two years. My understanding is that she blames herself for not catching it sooner.

Secretary McCord: This is a morbid detail to note.

Nadine: Too morbid?

Secretary McCord: No, I think you might actually be on to something.

Upon learning that Adam Fanning’s father had Huntington’s disease, Secretary McCord knows Judith Fanning is hiding something. Furthermore, it is discovered that Judith Fanning contacted her son within the last six months and had sent thousands of dollars to the Middle East for the purchase of a drug called Tetrabenazine. Secretary McCord decides to question Judith Fanning in person one more time.

Transcript

Judith Fanning: I didn’t realize you’d be the closer.

Secretary McCord: When my own employee lies to my face, I like to find out why.

Judith Fanning: I can’t help you. You want to kill my son.

Secretary McCord: I want to stop him from killing innocent people. You should too.

Judith Fanning: I want my son back, the way that he was.

Secretary McCord: Before he became radicalized. Before you found out he had Huntington’s disease. Early onset sufferers are likely to have children who exhibit symptoms even earlier. Is that what happened to Adam?

Judith Fanning: Last year, he e-mailed me that he wanted to talk about his father’s symptoms so we Skyped. And there he was, he was shaking like a leaf.

Secretary McCord: Did he say where he was or who he’d been with?

Judith Fanning: Nothing. I told you, I will be of no help.

Secretary McCord: Your computer records show shortly before you sent the money, you searched online for information on a drug, Tetrabenazine. It’s the only medicine proven to help with early onset spasms. It’s what the money was for, wasn’t it?

Judith Fanning: I know what Adam did was unforgivable. He’s still my son. Promise me that you’ll give him a chance, promise that you won’t kill him.

Secretary McCord: I’m sorry.

Later to her assistant:

Secretary McCord: Get any traces of Tetrabenazine crossing ISIS territory…make it clear that no one outside our inner circle knows why we’re looking into it.

During the rest of the episode, we witness Secretary McCord’s thought process as she tries to figure out how to stop Adam Fanning from killing more innocent Americans. Through a conversation with her brother, Secretary McCord learns that a courier is transporting large orders of Tetrabenazine, a prescription medicine that reduces motor spasms and uncontrolled movements, across ISIS territory to Adam Fanning. After verifying the courier and Adam Fanning’s identity, Secretary McCord watches over video surveillance as President Dalton issues the order to kill both the courier and Adam Fanning through a drone strike.

Review

This episode of Madam Secretary does an accurate job describing Huntington’s disease. Judith Fanning knows that her son is symptomatic with the disease, as demonstrated from the tremors she sees from a Skype video call. Since Adam Fanning is in his early 20’s, it is likely that he has Juvenile Huntington’s disease. However, a genetic testing would be needed to determine his CAG count. If it is over 38 repeats, it indicates the presence of Huntington’s disease.

Furthermore, Tetrabenazine is currently the only FDA approved drug on the market for Huntington’s disease. It reduces occurrences of chorea and other symptoms that result from motor control. Secretary McCord notes that early sufferers often have children with early onset as well. While there is correlative evidence that this may be true, one cannot make a causal claim that all early onset sufferers will have symptomatic children with similar age of onset due to genetic variations during reproduction.

Overall, this episode does an accurate job of reflecting the medical science and treatments of Huntington’s disease, albeit in an unfortunate scenario involving issues of national security.

 

 

K Powers 2016

 

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NPR’s This American Life

NPR’s This American Life with Ira Glass explores a wide range of stories that encompass social issues of all varieties. Several times, this show has covered true stories of those affected by Huntington’s disease.

Dr. Gilmer and Mr. Hyde^

One of the most popular podcasts, titled Dr. Gilmer and Mr. Hyde, is the story of a small town doctor who murders his father for mysterious reasons. Many years later, we learn that Huntington’s disease was the reason behind many of his behaviors. This is the story of how the murder took place and how the man learned he had Huntington’s.

The prologue begins with a setting of the scene. We are in a small town in North Carolina. After a local doctor is sent to jail for killing his own father, a new doctor is hired to fill the position at the local clinic. This new doctor learns that his predecessor was responsible for “strangling [his father] and sawing off [his father’s] fingers.” Even stranger, the murderer’s name is the same as the new doctor’s: Dr. Gilmer.  

For clarification, the new doctor in town is Dr. Benjamin Gilmer, and the former doctor imprisoned for murder is Dr. Vince Gilmer. As the new Dr. Gilmer sees more and more patients, his familiar name causes them to speak up about their former doctor. His patients describe the kindness with which Dr. Vince Gilmer treated them, often forgoing payments to help those who were struggling financially.

This man described by his patients seems out of place with the man who committed the murder. However, one patient, Jerol Davis, notes that Dr. Vince Gilmer’s father probably had Alzheimer’s disease. Alzheimer’s disease symptoms often manifest in a similar manner as  Huntington’s disease. Considering that Huntington’s disease is a much more stigmatized illness, it makes sense that people would mistake it for a more recognized disease.


Dr. Benjamin Gilmer becomes very curious about the case because the murderous behaviors of Dr. Vince Gilmer seem out of character. He begins to conduct his own investigation to explain Vince’s actions.

At this point, we transition to Act One. Dr. Benjamin Gilmer is becoming more paranoid for his safety, as he starts to imagine Dr. Vince Gilmer escaping prison and coming for him because he  took Vince Gilmer’s job.

Dr. Benjamin Gilmer: “I mean, he obviously was crazy when he did this act. It didn’t sound like it was an intentional thing that he– it wasn’t premeditated, as I understand it. I mean this is the trouble. Like I’m still– I’m still confused by whether he was good or not. You know, it’s kind of like living with a ghost in your house. And you tell your kids that it’s a friendly ghost. But you never know where the ghost is coming from.”

We soon learn that in the previous year Dr. Vince Gilmer was involved in a bad car accident. Due to symptoms like chorea, this accident could be caused by a loss of control associated with a movement disorder like Huntington’s disease. Furthermore, some postulated that Dr. Gilmer purposefully crashed the truck in order to obtain a new one. If this is true, this kind of irrational behavior  could also be indicative of Huntington’s disease symptoms. If his behavior was motivated by suicidal intentions, that would also fall in line with HD, as the number one “cause of death” for HD patients is suicide. (For more on suicidal ideation, click here.)

Shortly after the accident, Dr. Vince Gilmer suddenly announces a divorce between him and his wife. This is soon followed by his development of a drinking problem. (For more information on substance abuse and HD, click here.)

Next, we learn that Dr. Vince Gilmer’s father, Dalton Gilmer, resides in a psychiatric hospital. We know that he is taking antipsychotic medication and needs a wheelchair or walker at 60 years old. As Vince is moving his father from the hospital to a nursing home, he takes an unusual detour.

We begin to learn more about Vince’s past. His father, Dalton, sexually abused him and his sister, which included “inappropriate sexual remarks and gropes.” Dalton’s wife and Vince’s mother thought that Dalton’s violence and inappropriate behavior was a result of his service in Vietnam.

As Dr. Gilmer was driving the truck from his father’s nursing home, Dalton continued to say “filthy things,” causing Vince to lose self-control and begin to have a compulsion to kill his father. (For more information on sexual impulses and HD, please visit our website here.)

After killing his father, Dr. Vince Gilmer panics and dumps the body, removing his father’s fingers so his body can not be identified. At first, Dr. Benjamin Gilmer postulates that this behavior is a result of traumatic brain injury, which he had studied prior to medical school.

Upon discussion with the detective on the case, we learn that this case is unique in that Dr. Vince Gilmer “was able to kill his father and show no remorse.” During his confession, we receive a major clue in the mystery behind why this murder occurred: lack of serotonin. It is described in the podcast as follows:

Serotonin, a hormone, a neurotransmitter. If you don’t have the right level of it in your brain, it can affect your mood. Which is why many antidepressants increase your serotonin level. These drugs are called SSRIs, selective serotonin reuptake inhibitors. If you stop taking them abruptly, you can have suicidal thoughts, severe agitation, even psychosis.”

Vince Gilmer admitted that he had abruptly stopped his SSRI regimen and found himself experiencing extreme bouts of irritability. In his own words, he felt “mentally retarded.”  And these were just the mental handicaps Vince Gilmer was facing. During an analysis by a clinical psychologist, Vince Gilmer was noted as acting in the following way:

“…spoke in a halting fashion, fidgeted while sitting, stood with a stooped posture, occasionally paced, and gesticulated broadly with his hands while talking. This presentation was very dramatic and not consistent with known anxiety or psychotic disorders.

Act One ends with Vince Gilmer’s guilty verdict, resulting in a life sentence without possibility of parole. However, one adamant doctor decides to pursue the case further, as explored in Act Two.

Act Two

As our podcast investigators continue to dive deeper, they decide to interview Vince Gilmer in prison. He has resided in maximum security prison for six years and is still exhibiting symptoms similar to those during his court proceedings. As interviewer Sarah Koenig and Dr. Benjamin Gilmer speak to him, they notice repetitive body movements and an inability to focus. When Sarah is on the phone, we hear Vince Gilmer constantly repeat himself. While never confirmed in the podcast, Vince Gilmer could be experiencing a classic HD symptom of perseveration, the inability to stop one’s self from repeating an action. (For more information on perseveration, click here.)

Dr. Benjamin Gilmer believes that Vince Gilmer had been wrongfully convicted—he was clearly experiencing symptoms of a mental illness. To confirm his theories of SSRI withdrawal, he brought in a psychiatrist, but the psychiatrist quickly rejected the SSRI withdrawal hypothesis, as well as that of traumatic brain injury. As the two are leaving the prison, psychiatrist Steve Buie asks a transformative question: “Could this be Huntington’s?”

The podcast describes HD in the following manner:

Huntington’s disease is a horrible condition, one of the worst. Like a cruel trifecta of Alzheimer’s, Parkinson’s, and Lou Gehrig’s disease rolled into one. It causes severe emotional and physical symptoms. It’s progressive. It’s painful and highly inheritable. If your parent has it, you’ve got a 50/50 chance of getting it… Typically it starts to affect a person between the ages of 35 and 45. Vince’s behavior began to change when he was about 40. And it’s fatal. Once you have symptoms, the brain and body dwindle away. You usually die after about 20 years from a complication like pneumonia or choking.

The psychologist and Dr. Benajmin Gilmer review Vince Gilmer’s symptoms: behavioral disturbances, hallucinations, irritability, moodiness, paranoia, psychosis, abnormal and unusual movements, including facial movements, grimacing, quick sudden jerking movements, unsteady gait, disorientation or confusion, loss of judgment, loss of memory, personality changes, speech changes, anxiety, and stress.

The team knew that genetic testing was the best method of determining if Vince Gilmer actually had the disease, but they were unsure how to go about facilitating a test through prison. Unfortunately, we learn that Vince Gilmer has recently attempted suicide and was moved to a psychiatric hospital. After talking to the social worker there, we learn that it is now possible to test Vince Gilmer.

(The matter of consent is not made explicitly clear in this section of the podcast. We learn that the psychiatrist meets with Vince and that they draw blood, but we are not made aware of Vince Gilmer consenting to a blood draw, especially as a ward of the state. However, consent is always of utmost importance when it comes to genetic testing. No one should be coerced into the process.)

When the results come back, we learn that Vince Gilmer is indeed positive with a CAG count of 43. The CAG count refers to the repeats in the DNA of the building blocks cytosine (C), adenine (A) and guanine (G). (For more information the genetic testing process, watch our HOPES video here.)

Vince Gilmer’s new psychiatrist, Dr. Colin Angliker, delivers the news to Vince. In his own words, he was nervous because delivering such news is “more or less like a death sentence that you’re telling somebody.” However, Vince Gilmer seemed relieved to hear of the news. This reaction is likely due to the extended period of time over which Vince Gilmer has so desperately tried to prove his illness to others. With the diagnosis, Dr. Angliker is able to provide the proper medications.

As noted in the podcast, “Huntington’s kills off brain cells, neurons, which decrease production of neurotransmitters. So all this time, it’s possible Vince did have a serotonin-deprived brain. It’s possible he was right.”

(It took one doctor only two visits to realize that he had a neurologic illness that many other psychiatrists did not recognize. This gap in observation may be a result of the highly stigmatized nature of Huntington’s disease, particularly in rural regions such as North Carolina where medical establishments may not be as informed on the latest neurological disease research. Huntington’s disease has a long history of misdiagnosis, which is still a major problem today.

While Huntington’s disease did not “create a murderer,” it was likely that Vince Gilmer was suffering from symptoms of the disease during the killing. Huntington’s “can cause erratic, agitated, and sometimes uncontrollable behavior.” Dr. Vince Gilmer did note that he wasn’t feeling like himself at the time of the murder. The criminal justice system failed Dr. Vince Gilmer by allowing him to self-represent and failing to properly diagnose the existence and severity of his disease for so many years.)

Dr. Benjamin Gilmer checks in on Vince Gilmer a few months later. While Vince Gilmer is feeling far better, it is revealed that he surprisingly knows little to nothing about the disease. Dr. Benjamin Gilmer must explain that this disease is hereditary and that his sister, her children and her grandchildren are all at risk, as one of their parents passed on the mutant gene. Dr. Benjamin Gilmer also reveals that there are no treatments or cures specific to HD, only methods of treating certain symptoms.

At the end of the podcast, we learn that Dr. Benjamin Gilmer is still trying to get Vince Gilmer released from prison. They are working with a legal team to secure his release.

Overall, the representation and disease description of HD was accurate in this podcast. Due to the limited knowledge and stigma surround the disease, it is not uncommon for law enforcement and HD patients to clash, for the justice system is unable to properly deal with the symptoms that HD causes and how they might be misconstrued as criminal behavior. For more resources on HD and law enforcement, please visit HDSA’s law enforcement guide here.

To listen to the full podcast, click here.

It Says So Right Here^

For this episode, What Are You Doing for the Test of Your Life?, an individual, the youngest of six sisters, decides to undergo genetic testing.

Kelly, 28, is at risk for HD. Her mother has Huntington’s disease and Kelly’s grandfather suffered from the disease as well. The podcast begins on the morning before Kelly receives her test result. Kelly is nervous and says that she has “butterflies.” She describes this day like Christmas: “You wake up, open your presents, except it could be the worst present of your life, or the best.”

Of her five other sisters, there are at least two individuals who show signs of HD. Kathy, Kelly’s oldest sister, is 42 years old. She was primarily responsible for taking care of Kelly and Kathy’s mother growing up. Kathy is now symptomatic. Upon interviewing her sister, Kelly admits one of her fears: “What if your mind is trapped inside this body that can’t move?”

Kelly and her sisters describe their mother’s current condition and what it was like growing up in a family affected by HD. Kelly admits that she found herself often embarrassed and mad at her mom, a common occurrence among children with parents affected by the disease. While the children may or may not understand what is happening, many parents start showing symptoms around a child’s teenage years, a difficult time for self-development and relationships, particularly when trying to forge friendships and socialize.

Kelly then asks Kathy why she never got tested. Kathy responds:

Kathy: Insurance, denial of wasting my life…

Kelly: …like you feel like you didn’t do what you should have done?

Kathy: Yeah. I should have lived more.

Kelly: For me, it is, I don’t know if I’ll be liberated if they tell me I have it because, like you said you think about it everyday and if you know you have it, like you said, I’m going to live balls to the wall. I’m going to do everything, I’m going to make a list and do everything I want to do.

Kathy: None of us should be having kids.

Kelly: For me, it’s more so the care of the child. Now I don’t want my kid to go through what I went through. I had you to raise me, thank god, but with Mommy, I saw the most terrible part of someone that was supposed to be my mother.

At this point, we are introduced to the complex and difficult conversation of child rearing in HD families. Kathy believes that none of her sisters should have children, presumably because of the risk of passing on the mutant gene. However, for Kelly, she does not want to have children because she does not want to subject her children to the type of childhood that Kelly had.

We later learn that Kelly’s niece, Kathy’s daughter, Kayla, will accompany Kelly to the genetic testing appointment. Kayla describes Kelly as her only family support. Kayla was genetically diagnosed with Huntington’s disease, but has not told her mother since her mother is already experiencing depression, and Kayla fears pushing her over the edge. Kayla deals with difficulties in finding support systems:

I don’t have any family support besides Kelly, like mom or dad. Kelly is the only person I have who understands it, that is behind me on it. I haven’t told anyone in my family really besides Kelly. We’ve talked about it our whole lives and I don’t want her to have it but it’s like one part of me that if Kelly has it, I’m not alone. So I have really mixed feelings on it. Since I’ve found out my results, I smoke more. I really do. Now I’m like, screw it. Before people were like, “Oh it’s so unhealthy, you’ll get cancer” and I’m like what more can happen, you know what I mean.

Support systems are of utmost importance in HD families. Sometimes, it is not possible to find those support systems within one’s own family. However, if possible, one may be able to obtain the support of a counselor or local support group. (For a listing of HD support groups in your area, click here.)

Kelly describes her method of coping with the results. She has planned a packed few weeks of activities in order to distract herself and provide a healthy outlet for coping. Kayla, upon learning her test results, spent the night eating pizza and watching stand up comedy routines. Every individual has different methods of coping. It is important to identify which is best for you and to ensure that method is healthy and does no harm to one’s self or others.

Kelly documents her genetic results appointment. Her genetic counselor attempts to engage Kelly, her fiancé, and Kayla in conversation:

Genetic counselor (GC): Have you been nervous or pretty chill?

Kelly: I just want to throw up.

GC: You do? Okay. Do you want me to cut right to the chase?

Kelly (laughing): I don’t know.

GC: Okay, Well, I’m happy to do that, um, unless you guys wanted to talk a little bit…

In unison her boyfriend, Kelly: No. We just want to know.

Boyfriend: We just want to get to it.

GC: Some people want to have a conversation about what would happen, you know, okay great. Your results were normal. You’re not going to have Huntington’s disease. It’s not what you were expecting, I know.

(Analysis: This conversation highlights the sensitive role of a genetic counselor. It is clear that the genetic counselor did not have a previous conversation with Kelly regarding the methods by which she wanted her tests results delivered. The genetic counselor makes Kelly’s tensions rise as she tries to engage in friendly conversation. The counselor even notes that “some people want to have a conversation.” However, the genetic counselor should have ascertained that desire before the results day appointment.)

After the shock has worn off, Kayla, the niece, asks for some time alone. As somebody who has tested positive for the disease, it is difficult to hear a loved one is negative, and escaped, in a sense, from the disease. While the results severely impact the life of the individual tested, HD is a family disease. These results affect many family members and loved ones in a variety of ways, which explains why Kayla hides her disease status from her mother. Kelly regrets bringing Kayla. While she wanted Kayla’s support, she retrospectively realizes the impact that the results have on her niece.

The genetic counselor and Kelly discuss Kayla’s reaction. Kelly notes that now, at least she can take care of Kayla. This is a heartbreaking moment as it exposes the lifelong impacts of Huntington’s disease. While one individual tests negative, it is very likely that they become caregivers for other members of the family affected by the disease.

Overall, this podcast accurately reflects the challenges of genetic testing and the emotional investment in the disease.

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House

The television medical drama House is one of the most famous examples of the use of Huntington’s disease in the media. One of the main characters, Thirteen, is affected by Huntington’s disease in many different capacities, and several episodes are devoted to exploring the emotional impact of HD. In this review, we attempt to parse out each episode and understand the societal implications of the portrayal of HD, understanding as well that much of HD’s recognition, at least within the United States, is as a result of the show’s coverage of this stigmatized disease.

Season 4, Episode 8: You Don’t Want to Know^

In this episode, Thirteen has an interaction with the main doctor, House, in which House accuses her of being sick and hiding it after Thirteen drops a file and is very flustered by it. Thirteen states that there is “fun in not knowing” what affects her, but she is clearly disturbed by her shaky hands and strange body movements throughout the episode. At this point, Thirteen knows that she is at risk for Huntington’s disease, as her mother had it, but she has not been genetically tested to confirm her gene status.

Later on, House says Thirteen knows the answer to her strange movements. He was snooping through her wallet and found an old picture of what he assumed to be Thirteen’s mother around the age of 32. House postulates that a person doesn’t update a photo in 20 years because the individual is not talking to you or that individual is dead.  House further states that Thirteen is “pretty young to have a dead mom.”

House: I googled her obituary. Said she died at New Haven Presbyterian after a long illness. Parkinson’s.

Thirteen: Huntington’s chorea.

House: I’m sorry.

Thirteen: I’m leaving when this case is over.

House: No, you’re not.

Thirteen: You don’t want a doctor on your team who’s slowing losing control of her body and mind.

House: Huntington’s isn’t the only thing that causes tremors.

Thirteen: You think it’s just a coincidence?

House: I think you’re the only one on the team who drinks decaf. I’ve been switching it out with regular ever since you dropped that file. Your trembling is because you’re hopped up on caffeine. First file wasn’t my fault. Medical explanation for that is people drop things.

Thirteen: I’ve been walking around thinking I’m dying.

House: You are.

Thirteen: You don’t know that.

House: You have Huntington’s; it’s inevitable.

Thirteen: No, you don’t know that because I don’t know that.

House: How could you not get tested? If your mom had it,  that’s a 50% chance. You’re a bomb waiting to explode.

Thirteen: Not knowing makes me do things I think I am afraid to do. Take flying classes, climb Mt. Kilimanjaro, work for you.

House: Yes because if you knew, you couldn’t do any of those things.

In this scene, we learn that Thirteen not only lost her mom to Huntington’s disease, but that she is also at-risk for the disease herself. House assumes that Thirteen has tested positive for HD, which is why he says that the development of her disease is “inevitable.” If one is at-risk for HD, the chance of inheritance is 50%. However, if one does have the gene for the disease, the individual will present symptoms if they live long enough, usually between the ages of 30 and 50 years.

House cannot fathom why Thirteen would not want to know, which is a common phenomenon for individuals who did not grow up affected by the disease. As a physician, House should be more sensitive towards Thirteen’s hesitancy to test. However, in the context of the show, this attitude aligns with House’s oft politically incorrect and unprofessional commentary.

Later in the show, we see House obtain a water bottle from Thirteen in order to test it without her consent. We can assume that he tested her saliva; however, most genetic tests are done with a blood draw. Towards the end of the episode, Thirteen walks into House’s office with an envelope in her hand.

Thirteen: What the hell is this?

House: Looks like an envelope with the results of a genetic test for Huntington’s inside.

Thirteen: Did you look?

House: I thought it would be fun to find out together.

Thirteen: I don’t want to know.

House: No, you’re afraid to know.

Thirteen: I might die. So could you. You could hit by a bus tomorrow. The only difference is that is you don’t have to know about it today so why should I?

House: I don’t have to know the lottery numbers, but if someone offered them to me, I’d take them.

Thirteen: You spend your whole life looking for answers because you think the next answer will change something, maybe make you a little less miserable. And you know that when you run out of questions, you don’t just run out of answers. You run out of hope. You glad you know that?

Thirteen walks out and House throws the envelope in the trash.

As mentioned before, the character House is insensitive to the traumatic effects of growing up in a Huntington’s disease family. No one should be coerced into discovering his or her HD status. Explicit consent from the at-risk individual is required. Additionally, it is highly recommended that the at-risk individual see a genetic counselor before undergoing the genetic testing process to better understand one’s rights during the testing, as well as have an opportunity to see a psychologist and a neurologist in order to identify potential barriers to genetic testing. Again, HD is traditionally tested through blood samples, not a spit swab.

Season 4; Episode 15: House’s Head^

House reprimands Thirteen for getting distracted by her personal life while treating one of their critically wounded friends. He finds her later in the bathroom where he confronts her from the next stall.

Thirteen: You’re right. I’m screwing up.

House: Why are you screwing up?

Thirteen: I didn’t even like her.

House: Did you hate her?

Thirteen: Not enough to want her dead.

House: Was that guilt? That just leaves fear? Young woman dying. Young doctor dying in fact. That sound familiar?

Thirteen: Yeah. I am at-risk for Huntington’s. I’ve dealt with it.

House: By not getting tested. Dealing with it by not dealing with it? It’s clearly working beautifully.

Thirteen: You are the champion of not dealing with your problems.

House: My grandson gave me a mug that says that. Okay, enough hand holding. Deal with it, get back in there or pack up your stuff.

Thirteen: You’re screwing up this case worse than I am.

In this dialogue, we see a continuation of coercion from Dr. House, who wants his employee, Thirteen, to undergo genetic testing. It appears that Thirteen may be experiencing concentration difficulties, which could be an experience of Huntington’s disease or another issue all together. However, Dr. House does have a valid concern that one of his doctors might be jeopardizing other patients due to an unknown illness. Thirteen, however, may be fearful of her personal reaction to genetic testing and may not feel comfortable enough to discover her gene status, despite the consequences it may have for her employment.

Season 4; Episode 16: Wilson’s Heart

In this episode, through visuals, we see Thirteen test herself for Huntington’s disease alone. She receives a piece of paper that says “Huntington’s disease…Pos”, meaning that she has tested positive for the mutant huntingtin gene. This means that if she lives long enough, Thirteen will begin to experience symptoms of Huntington’s disease and any children that she may have will also have a 50% chance of inheriting the disease. This scene has no dialogue and is overplayed by a song. We do not discover her reaction to the genetic testing results at this point.

Season 5; Episode 1: Dying Changes Everything^

Thirteen: Why is everyone leaping to conclude a strong career woman has been made sick by her strong career? Let’s not be twelve; it’s insulinoma in her pancreas; it’s making her hyperglycemic.

House: Great. Now everyone knows.

Dr. Taub: You knew the patient had cancer?

House: Is that what she said?  I thought she said, “I am suddenly irrationally defending a woman’s strong career even though in reality, she’s just a glorified grunt because I’m trying to convince myself that it’s okay not to have a life because I don’t have a life and I was tested for Huntington’s and my lifespan’s been cut in half.”  I’ve been waiting two months for her to say that.

Associate doctors follow her out the room.

Dr. Cutner: Are you okay?

Dr. Foreman: Could be years before you see any symptoms.

Dr. Taub: Why wouldn’t you tell us?

Thirteen: I don’t have Huntington’s.

Dr. Cutner: Are you lying to us…because it’s none of our business?

Thirteen: If it’s none of your business then I shouldn’t have to answer these questions and I wouldn’t have to except House doesn’t want to answer questions about Wilson.  He’s deflecting his own problems on to me.

Dr. Cutner: Are you deflecting now?

Thirteen: Time for the B12 cocktail and my life lesson.

Later, while discussing a case that requires aborting a high-risk pregnancy:

House: This has nothing to do with her genitalia and everything to do with your genetics.

Thirteen: You told me to get tested.

House: I didn’t know it was going to color your every medical opinion and every personal opinion.

Thirteen: You didn’t think a death sentence would…

House: People die. You, Amber, everyone. Don’t act like you just figured that out. I gave you a diagnosis. You don’t like it? There are exits on every floor.

Later, while trying to determine a reason for patient’s continuing ailments:

Dr. Taub: I know this is none of our business but if House thinks your Huntington’s is affecting you the maybe your really have…

Thirteen: It’s not that I have…

Dr. Taub: You’re desperate to do this without him. You’re trying to cure her. You’re trying to prove.. (Dialogue is cut off by another conversation)

Later, in conversation with the patient:

Patient: You’re not like me. Maybe you have wings.

Thirteen: I have Huntington’s chorea. Dozen years or so my nervous system, my cognitive skills even my emotional balance, they’ll all start to fray. I won’t be able to fly. I won’t be able to walk. I won’t be able to breathe.

Patient: And you want to make sure your life matters.

Thirteen: I don’t want it to just be tightening bolts and following instructions. I want something to be different because of me.

Patient: I am…not just because you saved my life. I’m applying for a job at a foundation, running the finance division. I mean, I don’t know if I am going to get it, but if I don’t, there are other foundations.

Later, in conversation with House:

House: I like you better now that you are dying.

Thirteen: I was wrong.

House: You took a shot.

Thirteen: She’s going back to work for that idiot. It’s pathetic.

House: You thought something would change?

Thirteen: She almost died…because of that job. Yeah I thought…

House: Almost dying changes nothing. Dying changes everything.

Thirteen begins to struggle with a separation of work and personal life. She is desperately trying to dismiss her disease among her colleagues, but is clearly distraught during her work shifts. House continues to be insensitive to Thirteen’s situation and threatens firing her if she continues to be distracted in her job. Unfortunately, one of the major issues facing Huntington’s disease is loss of employment. While the Genetic Information Non-Discrimination Act protects employees from genetic discrimination in the workplace, it is difficult to protect employees whose quality of work is deteriorating due to the disease. For more information on GINA and workplace challenges, visit http://hdsa.org/living-with-hd/gina/

Season 5; Episode 5: Lucky Thirteen^

In this beginning of this episode, we learn that Thirteen has engaged in risky sexual behavior with multiple partners and has experimented with drugs. During one of her sexual encounters, her partner begins to seize and is rushed to the hospital. House meets her at the hospital.

House: I’ve been waiting for you to spiral out of control since your HD diagnosis, but this was more than I could hope for.

Later, the team discusses what could cause the patient’s symptoms. Thirteen says it was due to alcohol and ecstasy.

Dr. Taub: Wait, were you doing ecstasy?

Thirteen: That’s not diagnostically relevant.

House: It is if we are trying to diagnose how deep of a spiral you are on.

Later, in conversation with Dr. Foreman

Dr. Foreman: The thing you didn’t want House to find in your apartment, I found it.

(Thirteen stuffs a piece of paper in her pocket.)

Dr. Foreman: With a CAG count this high, it means you have less time than you thought. It’s understandable that you’re upset, it doesn’t mean you have to self-destruct.

Thirteen: It’s not noble for you to protect me from House if you’re just going to judge.

Dr. Foreman: There are things you should be doing: working out, improving balance and coordination…

Thirteen: Yeah, sounds like a blast. I’m having fun. Cramming as much fun into my life as I can.

Foreman: You are doing drugs, staying up all night, having sex with strangers

Thirteen: Sounds fun to me.

Later in this episode, House fires Thirteen for her drug use. Before he asks her to leave, he tells her to talk to her partner about life-threatening illness since Thirteen is in a similar position. This illness explains the patient’s earlier seizure. Thirteen, as we can see, is very much struggling with her diagnosis and is having difficulty finding healthy coping mechanisms.

House: Controlling women is as close as you can get to controlling what is going to happen to you.

Thirteen: And here I thought I was just into boobs.

House: Instead of getting sweaty with a stranger, why don’t you try taking it to the next level? Play God. Tell the girl that she has ten years to live. She has LAM (a lung disease).

Thirteen: Ok.

House: This is not a test. You’re not getting your job back.

Thirteen: I know what it’s like to get this type of news. She shouldn’t have to get it from you.

Later, in conversation with terminally ill patient after revealing that she has less than 10 years to live:

Thirteen: I know you’re scared.

Patient: I don’t know what I feel.

Thirteen: You’re going to be numb for a few more days. Then you’re going to go home and cry for a few weeks. And then you get angry. Start telling yourself that nothing matters anymore. Start doing stupid things. Maybe you go out to bars and pick up a bunch of women

Patient: You’re…

Thirteen shakes her head yes.

Patient: How long do you have?

Thirteen: Maybe a little more than you, maybe a little less. I’ll race you.

Thirteen struggles to maintain a healthy lifestyle, experimenting with risky behaviors of sex and drug use. As a result of her drug use, House fires her as he cannot have his doctors using drugs. While unusual to see HD patients engage in such high levels of risky behavior, it is not unheard of for HD patients to experiment with drugs, sex and alcohol. It is crucial that individuals affected by HD seek the support and help they need, whether it means reaching out to a physician, support group or professional therapist.

Season 5; Episode 9: Last Resort^

Dr. Foreman: Got a minute?

Thirteen: No.

Dr. Foreman: I’m consulting on a trial involving some CNS compounds.

Thirteen: While it’s true that no sometimes means yes, in this context…

Dr. Foreman: One’s a new Huntington’s drug. Phase 3 trials are showing real results delaying neuronal degeneration. Probably get you in.

Thirteen: No thanks.

Dr. Foreman: Are you doing anything about your disease, any type of program?

Thirteen: Nope, nor am I looking for a consult.

Thirteen is not interested in participating in clinical trials, despite the potential benefits to her health. It can be difficult for individuals to participate in clinical trials as it is a reminder of the presence of their disease and its progression. However, for those looking for a mechanism to cope or get involved with the research process, participating in clinical trials can be a very meaningful way to contribute. For more information on clinical trials and how to get involved, visit http://hdsa.org/hd-research/enroll-in-a-clinical-trial/

Later in this episode, Thirteen offers to take drug as part of a deal in a hostage situation in the hospital. House chastises Thirteen for risking her life, despite the fact that she says her life is essentially over. House even accuses Thirteen of making poor decisions as a result of degeneration caused by Huntington’s disease.

Thirteen: I’ll take it. [refers to experimental medication that the captor wants somebody to test out for his own illness]

House: This is a level of risk beyond anonymous girl on girl action.

Thirteen: They’re patients, I’m a doctor.

House: With a degenerative, drug unfriendly illness.

Thirteen: Everything’s not just some fascinating character flaw.

House: This is a genetic flaw. This is your Huntington’s speaking. This is you waving a white flag at the world.

Thirteen: Yeah, if I have a shortened life span, another reason why I’m objectively the right choice.

Later in the episode

House: You’re the coward. You’re so afraid of death. You just want to counter it, it gives you the illusion of control.

Later in a desperate encounter with the captor who has taken patients and doctors hostage, the man is attempting to force Thirteen to take more drugs to help him discover what is wrong with his health.

House: She has HD…this could screw up her liver.

Thirteen: Chances are slim. Chances of him shooting us on the other hand…

House: Don’t.

Captor: How long do you have to live?

Thirteen: 8, 10 years

House: Killing her is your chance to get personal?

Captor: Huntington’s does…doesn’t have a cure?

Thirteen: No.

Captor: So if we get out of here…

House: If she were clinging to hope, she wouldn’t be taking more drugs.

Captor: Not knowing what was wrong with me made me miserable. Maybe that’s insane. Doing this, yeah: Insane. But I had something to gain. You can’t take risks with no upset at all.

House: I can’t decide which is riskier: taking crazy risks or taking advice on crazy risks from a crazed risk taker.

Later in conversation

Thirteen: You really don’t feel bad about killing me?

Captor: Not if you don’t feel bad about killing yourself.

Thirteen: I don’t want to die.

Captor: Yeah you do. You just don’t have the nerve to actually do it. You just want it out of your control. Well, it is, ‘cause I’ve got a gun.

Later in the episode, Thirteen is recovering from her risky intake of drugs by going on dialysis. At this point, Thirteen has changed her mind about her participation in clinical trials with Dr. Foreman.

Thirteen: About that Huntington’s drug trial.

After a traumatizing experience as a hostage and drug guinea pig, Thirteen realizes that she does want to make an effort to extend her life as long as possible. She decides that she will take up Dr. Foreman’s offer regarding the clinical trial.

Season 5; Episode 10: Let Them Eat Cake^

In this episode, we learn from Dr. Taub that Thirteen started clinical trials at the beginning of the episode. At the clinic, Thirteen has flashbacks to her mother after seeing an HD patient in the clinic and is very visibly distressed. In the next scene, she is doing a finger speed test with Dr. Foreman. The dialogue is interrupted by Dr. Foreman’s instructions for the activity at hand.

Thirteen: Are there a lot of other people in the trial?

Dr. Foreman: There are people who already started it at Mercy so it’s pretty full. Stop. One more time.. No talking

Thirteen: I shouldn’t be here. It’s nepotism. I know the guy running the drug trials so I get a spot.

Dr. Foreman: You have Huntington’s so you get a spot. Stop. One more time. Just the fingers, no mouth.

Thirteen: The point of this thing is to improve neural cell longevity, which doesn’t matter much before symptoms so you should give my spot to someone…

Dr. Foreman: Shut up. Stop. You can stop feeling guilty. Your best tapping rate was .004 taps per second. It means your nerves are starting to degenerate.

Due to Dr. Foreman and Thirteen’s relationship, Dr. Foreman feels more inclined to inform Thirteen of her results. In most clinical trials, the clinicians will not reveal the results and often record it in a method that allows the participant to remain anonymous. It is unfair of Dr. Foreman to give Thirteen her results without her permission and consent.

In a later scene, Dr. Foreman arrives at Thirteen’s house as she missed her next clinical trial appointment.

Dr. Foreman: You never showed up.

Thirteen: Get out of my house.

Dr. Foreman: If I wanted to find proof that you were slipping back into your self-destructive pattern, confirm you weren’t worth my time. Instead, I found this. You followed all of my instructions to the letter. You’re probably better than any patient I have. So why are you the only one that can’t show up for appointments?

Thirteen: I came down, right after I was finished with the appointment with House. You were in your office with another patient. And there was another patient in the waiting room.

Dr. Foreman: Janet.

Thirteen: I’m well aware of what is going to happen to my body over the next 8 to 10 years, I do not need a visual reminder every time I walk into that place.

Dr. Foreman: That’s understandable. It’s human. And you need to get over it. You show up on time tomorrow or you don’t show up at all.

Thirteen is struggling with the presence of a symptomatic woman in the clinic, which is preventing her from making her appointments. Understandably, Thirteen wants to avoid these encounters as they are fairly traumatic to her and bring up old memories. However, she is allowing her struggles to prevent her from participating in meaningful clinical research that Dr. Foreman believes is helping her slow down symptoms. Sometimes, it is helpful to have a support system accompany an individual to clinical trial appointments. For others recently diagnosed, it may be too painful to participate. Their willingness to participate may be a matter of time and healing first.

In a flashback, Thirteen watches her mother get into a car from her window. She refuses to say goodbye to her mother. From the flashback, we can presume that this perhaps this is the last time Thirteen sees her symptomatic mother alive. She recounts a comment made by her father:

Thirteen’s Dad: Your mom is leaving. You’re going to regret this the rest of your life.

During the trial appointment, Thirteen sees the patient, Janet, who has sparked so many painful flashbacks.

Thirteen to Dr. Foreman: I’ll keep coming, but can you change my appointment time?

Dr. Foreman: I can’t. The schedule is full. You’re stuck with her, might as well get to know her.

Thirteen then has a flashback to ignoring her mother’s presence, but decides to acknowledge it, rather than bury it, and goes to help Janet who is struggling with her sweater.

Thirteen to Dr. Foreman: I lied to you the other night. That woman in the waiting room… She didn’t freak me out about my future. She freaked me out about my past.

Dr. Foreman: Your mother. It must have been horrible watching her die.

Thirteen: I wanted her to die. She just yelled so much and for no reason…just screamed at me in front of my friends. My father tried to explain to me that her brain was literally shrinking, that she didn’t mean it and it was the disease but I didn’t care. I hated her. I never said goodbye. And she died with me hating her.

Thirteen’s diagnosis is causing her to encounter painful and uncomfortable memories of her past. Janet, the woman in the waiting room, often sparks these flashbacks, making the appointments something Thirteen dreads as she fears encountering Janet. However, through conversations with Dr. Foreman and personal reflection, Thirteen attempts to reconcile her past and future, which we see through her personal and direct interaction with Janet at the end of the episode.

Season 7; Episode 1: Now What^

In this episode, the team asks Thirteen about her pending leave of absence from work, but she refuses to tell them her reason for it.

Dr. Foreman: Why are you going to Rome? I found the flight information in your locker.

Thirteen: I love how everyone thinks it’s so quaint and childlike of me it is to expect a modicum of privacy around here.

Dr. Foreman: Your flight’s tomorrow. What’s so urgent in Rome?

Thirteen: I hear they wanna tear down the Coliseum to build a karaoke bar.

Dr. Foreman: [A clinic] in Rome is planning on starting a Huntington’s trial.

Thirteen: Seriously, I live to sing.

Dr. Foreman: I know they’ve been doing fetal neural transplantation. I also know that their subjects have increased risk of intracranial hemorrhage. This isn’t the time to join a trial. This research is in its infancy; so is your condition.

Thirteen: You read my note, you go through my locker, and then you decide you want to round it off by lecturing me on my life choices?

Dr. Foreman: I’m worried about you.

Thirteen: Oh that makes it all right then?

It should be noted that any clinical trial, medication, or research presented on a television drama should be viewed critically. While some dramas will attempt to portray accurate information about clinical trials and their risk, one should always check with their medical provider regarding available trials in the area.

This episode also highlights major privacy concerns. Thirteen seeks privacy over her medical information, but her fellow physicians do not respect these wishes. While Dr. Foreman has good intentions, it highlights the difficult line family, friends, and caretakers walk in order to allow their loved ones or patients the autonomy they desire while balancing good decision making.

Dialogue continued:

Thirteen: So are you going to ask me about this Huntington’s trial and by that I mean give me your opinion?

Chase: No. there’s one thing though: Will you have sex with me?

Thirteen: What?

Chase: Well, all this trauma is making you run away. I was in it for the long game. Deadlines been moved up.

Dr. Taub: So you’re really leaving. How long are you gone for?

Thirteen: Depends.

Dr. Taub: The drug trial, sounds risky.

Thirteen: You don’t think I should do it. Message heard.

Dr. Taub: No, I approve. Living fast and dying young is crap if you have a chance of getting better. I say good for you.

Dr. Foreman: If I’m scared about this, I can’t imagine how scared you are. You shouldn’t be alone. If you want, I could fly over for a few days. Friends.

Thirteen: I appreciate that, but I think I’ll be okay. I guess we took the long way around to being friends.

In this episode, the members of the team are sharing their concerns and wishes for Thirteen as she prepares for her leave of absence. Thirteen is not pleased with the invasion of privacy and leaves.

Team: Where’s Thirteen?

Dr. Foreman: She’s not coming:

Dr. Taub: You mean she changed her mind?

Dr. Foreman: I called the hospital in Rome to see when she was scheduled for surgery.

Dr. Taub: Why would…

Dr. Foreman: Doesn’t matter. Point is she’s not even in the trial. Never heard of her. She’s been lying to us all day.

Chase: Well have you tried…?

Dr. Foreman: Both the phone lines have been disconnected. She’s just gone.

Season 7; Episode 18: The Dig^

In this episode, we learn that Thirteen’s absence can be explained by a prison sentence. House drives to the prison to pick her up at the end of her sentence. In the next few scenes, we hear disjointed conversations between House and Thirteen as we try to piece together the reason she was imprisoned.

House: So what did you do?

Thirteen: You figured out I was in jail but you don’t know why?

House: I’ve been busy.

Thirteen: Excessive prescribing.

House: Not that busy. I know you plead down to excessive prescribing. Question was, what did you do?

Later

Thirteen and House’s conversation takes an awkward turn after House discusses his break up with Dr. Cuddy. Ending the silence, Thirteen reveals the reason she was imprisoned.

Thirteen: I killed a man.

Scene ends abruptly.

Later

Thirteen: You’re awfully quiet.

House: Sorry, it’s just how I get around people who recently killed a man.

Thirteen: It wasn’t…you know I’ve had a pretty rough year. Do you think you maybe we could just give this whole thing a rest?

House: You killed a man! You plead out to drugs. Hit and run on under the influence. Guy who you kneed in the groin was your date who dropped the dime. [refers to an earlier scene where Thirteen asks House to make a stop at a residential home, where she mysteriously decides to knee the man who opens the door]

Thirteen: I’m asking you to let it go.

House: I really wish I was the type of person who could do that.

Later

House: So what did you do?

Thirteen: No more guessing?

House: I need to know. I can make some phone calls, we can speed up your medical board hearing. In the meantime, no one can stop me from hiring an assistant.

Thirteen: You were right this morning. I met a guy at a coffee shop, we went back to my place and he OD’d.

House: Damn, could have saved myself a job offer.

Thirteen: We both acted like idiots. And I ended up doing time. Guess he did more.

We soon learn that Thirteen’s confession is a lie. House accidentally catches Thirteen crying in their hotel room, forcing her to divulge more of her life story to House the next day.

Later

Thirteen: When I was ten or eleven, my dad used to take us to the county fair…what?

House: Who’s us?

Thirteen: My mom and I.

House: Your mom, who had advanced stage Huntington’s. You have a sibling that you’ve never mentioned. Why’d you slip up now?

Thirteen: not everything means something

Later, in the same conversation

House: You don’t wake up in the middle of the night crying over a dead stranger. You confess to killing a man and then hide the details unless the details reveal more about you than the crime itself.  You plead down to drugs, you got a horrible genetic disease, and a sibling who is suddenly on your mind. You euthanized your brother. That guy back at the house was the doctor who wouldn’t help you cover it up.

Thirteen: The guy back at the house was my cellmate’s boyfriend who cheated on her when she was inside.

House: Well, I was right about everything else.

Thirteen: Congratulations.

Later

Thirteen: He couldn’t do it himself. He was…the disease had progressed too far. He was flailing, he didn’t have any control over his own body. He pretty much lost control of his mind too, but every once and a while he’d have a few seconds of lucidity. He turned to me and he said, “It’s time.” I hooked up the IV. I used gloves I knew they’d get me on the drugs, but they couldn’t prove who pushed the plunger. (Thirteen cries.) I put in the needle and he just got quiet and it was over. Then I was alone. And one day, I will be that sick and there will be no one there when it’s time. I didn’t expect compassion from you; I would have taken commiseration; Hell, I would have taken revulsion, any emotional engagement at all. It’s no wonder Cuddy broke up with you.

Later, House offers to kill her when she no longer wants to live with Huntington’s disease. This episode highlights very serious issues within the Huntington’s disease community. Due to the debilitating nature of the disease, some HD patients express intention to kill themselves before they lose control of their body and mind. While death with dignity is available in a few states within the United States, it is a global issue that is perhaps one of the most controversial aspects of living with HD. If you or a loved one are ever in need of support, the Huntington’s Disease Society of America a support guide for crisis management that can be accessed here.

Season 7; Episode 22: After Hours^

In the next episode, Chase discovers Thirteen had assisted her HD symptomatic brother with the attempt to end his own life. Chase responds.

Chase: You killed your own brother?

Thirteen: Yes, it was awful and devastating, but it wasn’t murder.  He was sick and he wanted to die and I promised I would help. Now, please stop pacing and help me find this thing.

Later

Chase: You promised your brother you’d euthanize him and you think you won’t feel bad about it as long as you keep your promise. That’s why you have this twisted obligation to keep all promises or your carefully constructed defense mechanisms could tumble down.

Thirteen: I saved my brother from a lot of pain.

Later

Thirteen: Darien had to shoot that kid. It was the right thing. Completely justified. But it didn’t matter. She destroyed her life trying to forget. I’m afraid that’s what’s going to happen to me.

Chase: You really should talk to someone.

Thirteen: I talked to a therapist. It didn’t help.

Chase: Well maybe you should talk to someone who isn’t a therapist.

Thirteen: Do you really think you have any idea of what it’s like to talk to with something like this?

Chase: Let’s grab a coffee

Chase is an example of a strong support system for Thirteen. Often, issues faced by Huntington’s disease patients or loved ones are challenging to confront on their own. Sometimes it takes a listening and non-judgmental ear to help these individuals, whether it be a loved one, close friend or professional therapist. Self-care is perhaps one of the most important core elements of health for those affected by this disease. For more resources on living with HD, visit http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/managing-hd/

Summary^

Thirteen is one of the most well-known fictional TV characters to be affected by Huntington’s disease. Her story highlights the numerous challenges that face persons affected by HD. We followed Thirteen as she struggled with her decision to undergo genetic testing. We learned of her painful memories of her mother who also had the disease. And we understood the challenges that her community faced as they attempted to help her. House’s representation of the HD experience was accurate, but, at times, an overdramatized showcase of a devastating, stigmatized disease and the effects it has on friends, family, employers and the surrounding community. While it may not be the perfect method of educating the world about HD, House and Thirteen have done more to raise awareness of name recognition and symptoms than perhaps any other form of media to date.

KPowers 2015

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Private Practice

In the Private Practice episode called “In Which Charlotte Goes Down the Rabbit Hole”, a character named Angie has misled her husband in believing she does not want a family. She has also led him to believe that he is infertile. Angie wants the doctors to lie on her behalf and tell her husband that she is infertile without disclosing the fact that she has prevented pregnancy with the use of a cervical cap. The doctors are concerned with Angie’s desire to lie to her husband regarding such a serious topic.

During this scene, Angie has returned to the medical office after the doctors told her they could not lie to her husband. She reveals a more complicated story regarding her desire to have children.

Angie: I know I shouldn’t have come back. But I looked up Dr. Montgomery on the Internet. You’re a genetic specialist right?

Dr. Montgomery: Yes.

Angie: I thought about what you said…that it’s better to know the truth.

Other doctor: So you told Ray that you don’t want any kids?

Angie: No, not that.

Other doctor: Angie, I don’t think we can help you here.

Angie: No, you have to. You have to help me. I need to know the truth.

Dr. Montgomery: The truth about what?

Angie: I need you to tell me whether or not I am dying.

(end scene)

In this previous scene, we are made aware that Angie might be dealing with something much more serious than infertility.

(Begin new scene)

Doctor Bennett: Huntington’s disease?

Angie: It’s a genetic disorder that causes…

Dr. Montgomery: A degeneration of the brain cells. We know.

Angie: So then you know how horrible it is? You lose control of your body, your brain atrophies, you can’t talk, you can’t eat, you just slowly die. And you’re just a shell. My mom had it, my grandmother had it…

Dr. Bennett: And you think you might have it?

Dr. Montgomery: If her mother had it then she has a 50/50 chance of inheriting the gene.

Angie: And if I have the gene I have a 100% chance of dying from the disease.

Dr. Montgomery: But you’ve never been tested?

Angie: I just wanted to live my life. And then I met Ray.

Dr. Bennett: And he doesn’t know that you could have Huntington’s?

Angie: I wasn’t looking to get married. It was just dating. And then we were in love. And then I waited too long to tell him. And he loved me so much I didn’t want to scare him. I didn’t want to scare me. but now…

Dr. Montgomery: He wants to have children.

Angie: I can’t have a baby knowing that I could pass this on. I can’t have a baby if I am going to die. Last night, Ray and I were watching TV in bed and he was thinking of baby names and my heart started to hurt, physically hurt. I want to think up baby names. I want to grow old with this man and our kids and our grandkids. And I thought, maybe I don’t have the gene.

Dr. Bennett: Maybe knowing the truth is better than hiding it.

Angie: I want the test. I want to know. I want to live.

(end scene)

In this scene, Angie is grappling with the decision to test for Huntington’s disease. She has not disclosed her at-risk status to her husband as she is afraid she would scare her husband and herself if she found out. Angie’s anxiety and hesitancy to test is not unusual in the Huntington’s disease community. In fact, according to a study from the University of Chicago, less than 10% of individuals at-risk for Huntington’s disease undergo predictive genetic testing as asymptomatic individuals. (Oster, Shoulson and Dorsey, 2011).

(begin scene)

Dr. Bennett: Hey Violet, we might have a patient that we need you to see. Angie?

Violet: She still lying to her husband?

Dr. Bennett: It’s a little more complicated than that. She might have a terminal illness. He is setting her up in the exam room and I am going to draw blood in a few minutes.

Dr. Montgomery: Can you imagine? She finds the perfect guy, great marriage, they want kids. She was living the dream.

Violet: Not everyone has that dream.

Guy: Violet doesn’t believe in children. She acknowledges they exist because they scream at the restaurants. That’s about it.

Dr. Bennett: I used to be like that, before I had Maya. I was, then I had her, and I’m not saying it was a dream, but it’s pretty darn close.

Dr. Montgomery: You really don’t want children?

Violet: Look! Not everybody’s cut out for it.  And it’s incredibly hard for a woman to point out that she doesn’t want kids.

(End scene)

As this scene plays out, we learn that Angie is deciding to pursue genetic testing as the physicians discuss the decision to have children. In this episode, the writers and producers show some bias in that many of the characters believe that there should be no barriers in starting a family. While not unreasonable to present this opinion on a television drama, its implications seep into medical advice given to Angie later in the episode as we will see later on.

(Begin scene)

Nurse: Angie’s set up in room 2.

Angie: I like the name Margaret, for a girl. We could call her Maggie or Meg. Or Henry for a boy.

Dr. Montgomery: Angie, if the tests come back positive, you’ll need to tell Ray.

Angie: Do you have children?

Dr. Montgomery: No

Angie: But you want them?

Dr. Montgomery: I do.

Angie: Have you thought of baby names?

Dr. Montgomery . Carson. It works for a boy or a girl.

(end scene)

(begin scene)

Dr. Montgomery: Angie this is Dr. Violet Turner, she’s our psychiatrist.

Angie: I thought you were just going to tell me my test results. Oh…I have it. I really have it.

Dr. Montgomery: As of now, you have no symptoms. You could go years before you show any sign of illness.

Angie: Illness? You mean dementia, violent rages, wetting myself…

Dr. Bennett: A lot of research they are doing with repression proteins, very promising, hopefully in time…

Angie: Ugh, I don’t have time Dr. Bennett. Time is the one thing I don’t have. I’ve got a great life, an amazing husband, but no time. Dammit, and I don’t have time.

Dr. Turner: You are not alone. You have Ray.

Angie: No, I knew what I was getting into when I took that test. That stupid stupid test.

Dr. Turner: Why don’t you stay? We can talk.

Angie: I can’t, but thank you, all of you for trying to help.

Dr. Montgomery: What about Ray?

Angie: Don’t worry. I know what I have to do.

(end scene)

Genetic testing is an emotional process. For those who have watched loved ones experience the disease, testing can be traumatizing when experiencing it personally. For these reasons, it is incredibly important to find a qualified genetic testing center for HD such as a HDSA Center of Excellence in the United States or through recommendations from social workers. The genetic testing process should involve a neurological exam to test for existing symptoms, a psychiatric evaluation and meetings with a genetic counselor. These physicians should have taken greater care to prepare Angie for her test results and devise a strategy for coping with the results.

For more information on the process, watch our HOPES video on genetic testing here.

(begin scene)

Ray: Dr. Montgomery!

Dr. Montgomery: Ray, how are you? How’s Angie?

Ray: Gone. She’s gone. Angie left me. I came home and I found her packing her suitcase and she said her appointment here was like some kind of wake up call. And then she just left.

Dr. Bennett: And that’s all she said?

Dr. Montgomery: Ray, why don’t you…

Ray: I don’t understand. She spends two minutes with two of you and now she throws in the towel on our marriage.

Dr. Bennett: Ray, please, calm down

Ray: I want to know. What the hell did you say to my wife?

(end scene)

(begin scene)

Dr. Montgomery: Angie’s here.

Dr. Bennett: She finally responded to our messages?

Dr. Turner: Well it got her to come back. That’s something.

Dr. Bennett: Any ideas on what we say to her?

Dr. Turner: No, you said the baby making game would be fun. I’m not having fun.

Dr. Bennett: Uh, me either. Not with this one.

Dr. Turner:  It’s not fair. Good people should get to have what they want.

(later)

Angie: I was heading to the airport. You said there was something with Ray.

Dr. Bennett: Ray came by to see us yesterday. He was worried sick about you, not to mention confused and hurt.

Angie: You didn’t tell him? Did you? You cannot tell him!?

Dr. Bennett: Angie, he’s your husband. He deserves to know the truth.

Angie: I let him think I left him. Then he can hate me. Let him move on, find someone, be happy.

Dr. Turner: He’s happy with you.

Angie: But he’s gonna, I’m gonna get so sick. I’m going to die. I don’t want to die.

Dr. Turner: Angie, you have a disease. And you will die. That’s the truth. Hiding it from Ray is not going to change that. But the bigger truth, the better truth is that you are alive now. You’re living. And you should get, you should get everything that life has to offer. You should get what you want. You should get to have a child, and a family and Ray. Just because you’re sick doesn’t mean you don’t get to live your life. Go home. Go tell Ray the truth. Go tell him what the future is and let him decide. A person should get to have a whole life.

(end scene)

It can be devastating for an individual to receive genetic testing results for Huntington’s disease, whether it is positive or negative. International genetic testing protocols for HD strongly encourage the presence of a support person at the various appointments and test result appointment. This individual serves as a secondary information receiver and provides emotional support to the individual testing. As we can see, the physicians in this episode allowed Angie to test without this support person and told her when she was alone and in a vulnerable state. They did not provide a strategy for coping with the results and let her leave the clinic alone without that plan. These types of plans can be essential for the safety and well being of the patient, as well as their loved ones, considering how traumatic it can be to receive such results. Angie, overwhelmed and burdened with this information, tries to leave her husband without revealing the true reason behind her sudden departure from her marriage. It is only when Ray confronts the doctors do they realize how devastating this type of test results can be on those related to the person as well.

As we learn in the next scene, Angie talks to Ray about her diagnosis and returns to the clinic with her husband to discuss family planning.

(begin scene)

Ray: So the fertility tests, they came back fine for both of us so we can make a baby?

Angie: We want to share what life I have left with a child. And we were wondering if there was something you could do to make me pregnant sooner rather than later…

Ray: …because Angie doesn’t have a lot of time

Dr. Bennett: I just want to make sure that you understand…

Ray: I understand. Angie will die, sooner than we want. Angie will, uh, but that’s the future and I don’t care what happens tomorrow or in a few years. We have this now. We have us now.

Dr. Bennett: There is still the risk that the child will have the gene.

Angie: We know. We are willing to take that chance.

Ray: If everyone who’s had the gene were never born, I would have never met Angie.

Dr. Bennett: I really…

Dr. Montgomery: Naomi. They want us to help them make a baby.

Angie: A person gets to have their whole life

Dr. Montgomery: A person gets to have her whole life.

(end scene)

Unfortunately, the writers of Private Practice missed an important opportunity to discuss alternative family planning options with Angie and Ray. While Dr. Bennett rightfully attempts to explain the impacts of this type of decision, Dr. Montgomery allows emotion to cloud ability to present options to the couple before allowing them and them alone to make the decision.

Angie and Ray have every right to pursue a family. However, there are many options that allow them to have a child in a manner that can eliminate risk of inheriting the disease if they do choose so. For example, pre-implementation genetic diagnosis is a process that tests multiple embryos for the HD gene before implanting the HD-negative embryos. This process is, however, expensive for some families and can conflict with religious beliefs. Regardless, it is the responsibility of the physician to provide a couple with the variety of available options that would allow the couple to have a child without passing on the gene.

For more information on family planning, click here.

(begin scene)

Dr. Montgomery: What would you do right now if you were Angie?

Dr. Bennett: You mean if I knew?

Dr. Montgomery: If you knew.

Dr. Turner : Pretty much what I’m doing right now. (The characters are relaxing and drinking together after work.)

Dr, Bennett: Check you out.

Dr. Turner: No this is margarita #2

Dr. Bennett: I’d be on a plane to somewhere spectacular with Maya.

Dr. Turner: What about you?

Dr. Montgomery: I…I don’t know.

Dr. Turner: I’m going for more serenity.

Overall, this episode of Private Practice is fraught with misleading claims about life with Huntington’s disease. The episode is accurate in saying every individual with a parent has a 50% chance of inheriting the mutant gene. Unfortunately, the physicians in this episode do not properly handle the genetic testing process nor the emotions and ramifications of such a process. Furthermore, the physicians should not allow their own emotions to influence the decision making for family planning, especially without presentation of alternative options for childbearing that will eliminate the risk of inheritance for that child.

For further reading:

Oster, Emily, Ira Shoulson, and E. Dorsey. Optimal expectations and limited medical testing: evidence from Huntington disease. No. w17629. National Bureau of Economic Research, 2011.

KP 2015

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Without a Trace

­Episode: Second Sight

Summary

A young psychic named Agnes is seen flipping tarot cards as her hand trembles. Her co-worker, another psychic, notices that Agnes is in a strange mood. When she inquires about it, Agnes doesn’t divulge any information. When the co-worker leaves, Agnes flips over a card that reveals that her fate is death. The scene passes and it is revealed that Agnes has disappeared. The investigative team is called in. We will use this summary to analyze the ethical dilemmas and various representations, accurate and inaccurate, of Huntington’s disease.

During the interviews, one of the neighbors recalls seeing her fall down the stairs. He said he called a medic to assist her. She repeatedly told him and the hospital doctor how clumsy she is. When the doctor noticed her arm shaking, he tried to investigate, but she refused. Both the neighbor and the doctor believed someone was abusing her. Agnes left in a hurry from the hospital to avoid the doctor’s questioning.

The doctor ordered a neurology exam, but Agnes never showed up. The neurologist reviewed her CT scan and noted enlarged caudate nuclei. The doctor believes she has Huntington’s. The investigator interviewing the doctor doesn’t understand. The doctor clarifies by saying that Huntington’s is a “hereditary wasting disease, destroys your ability to think and move.” The investigator asks if it is fatal and the doctor replies with “always.”

Later, when her co-psychic was informed of the illness, she understands it as the “dark cloud around her.” The investigator states that she has to consider suicide as a reason for her disappearance since she has a terminal illness. The physic believes Agnes did not commit suicide as suicidal thoughts create a “strong energy” that the psychic would have noticed.

The psychic asks if it is a possibility that Agnes didn’t know she had it, especially since she missed the doctor’s appointment. However, the investigator mentions the fact that Huntington’s is hereditary and that Agnes may have recognized it in herself based upon observations of another symptomatic individual.

“Her grandmother,” the psychic realizes. She explains that Agnes told her about a vision she had after falling down the stairs. Agnes noted that there was a white bird sitting on a wagon wheel and she knew that bird was her grandmother. Agnes adored her grandmother and witnessed the bird struggling to get away because her wing was broken. The bird was trapped and alone. Agnes knew there was nothing she could do to help.

The psychic explains to the investigator that a white bird means sorrow.

Later on, the investigators identify that Agnes’ father staged her abduction. The investigator tells him that Agnes has Huntington’s. The father was unaware. He agrees to bring his daughter to them so the investigators can ensure her safety.

The investigator tells Agnes that her father knows about the diagnosis. Stunned and angry, Agnes asks him if he has ever watched anyone die of Huntington’s disease.

Dialogue 

Investigator: No.

Agnes: Their arms and legs, they jerk around like they’re trapped and trying to get away. No talking, no laughing and it takes a really long time. When I fell down the stairs I knew it; I couldn’t do this on my own. My family will stay with me. Who else would do that?

Investigator: No one.

The investigators allow her to leave with her family and drops all charges against her father.

Analysis

This episode of Without a Trace follows a young woman’s disappearance shortly after realizing she had inherited the mutant Huntingtin gene. While the show does an effective job of explaining the disease verbally without ever showing a symptomatic person, it does bring up various ethical dilemmas.

Agnes’ doctor is concerned. He believes that someone is injuring her as she has multiple hairline fractures and bruises. However, Agnes refuses to share the true reason for her many injuries. At this point, the doctor has noticed a tremor in her hand and orders a neurological exam, to which she never shows up. Without her permission, the neurologist examines her scans to discover the true reason for all her mishap: Huntington’s disease. Usually, consent is required in the testing of Huntington’s disease, but due to the unusual circumstances of the criminal investigation, this action might be considered justifiable.

Another ethical issue arises when the investigator tries to convince Agnes’ father to bring Agnes to them. In order to convince him, the investigator reveals that his daughter has Huntington’s disease. This action is not fair to Agnes. HD is a devastating family disease and individuals diagnosed with the illness should have an opportunity to share their gene status with their family in a safe and secure environment. However, in this criminal investigation, Agnes is stripped of that ability and is horrified to realize what the investigator has done.

Similar to most people, the investigator had never heard of Huntington’s disease until this specific investigation. He is inclined to arrest Agnes’ father and family members complicit in the staged abduction. After Agnes explains that her family members are the only ones who will care for her, he decides to drop charges and let Agnes leave with her family. Despite the family’s criminal history, the investigator decides that it would be morally wrong to take away Agnes’ family.

Finally, the co-psychic revealed that Agnes’ grandmother had the disease. It is clear from the episode that Agnes’ father does not have the disease. Huntington’s disease does not skip generations, so it is safe to assume that Agnes’ mother had the disease as well.

Without a Trace maintains accuracy while staying true to its dramatic nature. Ethical questions arise throughout the episode. Should a doctor run a neurology exam without a patient’s permission? Did the investigator have the right to share Agnes’ diagnosis with her father in order to ensure her safety? Was it right to drop the criminal charges against the family so they could care for Agnes? The answers to these questions are hard to come by, but the discussion around these issues is what is continually important.

 

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HD in Breaking Bad

This review contains information regarding genetic testing and coercion as it relates to Huntington’s disease.

Breaking Bad is a popular U.S. crime drama television series that aired from 2008 to 2013. The main character, Walter White Jr., discovers that he has terminal lung cancer and decides to sell methamphetamine in order to secure the financial future of his family when he passes.

In an episode titled Salud, Walter’s son is celebrating his 16th birthday. Unfortunately, Walter is unable to celebrate with his son due to various drug-related medical problems. The next morning, he sits his son down to tell him about a childhood memory that has always haunted him.

The Dialogue

Walter: My father died when I was six. You knew that right?

Son: Yeah.

Walter: He had Huntington’s disease; it destroys portions of the brain, affects muscle control, leads to dementia, it’s just a nasty disease. It’s genetic. Terrified my mother that I might have it so they ran tests on me when I was a kid, but I came up clean.

While it is important that Breaking Bad is introducing millions of viewers to Huntington’s disease, there is always a risk of misinformation or stereotyping in entertainment media. In this episode, the most glaring mistake is the comment Walter makes regarding his genetic testing for the disease.

Walter stated that his mother was so scared of his at-risk status that she had tests run on him when he was six years old. Although genetic testing is required to test for Huntington’s disease prior to symptom expression, the historical timeline in Breaking Bad is skewed. Genetic testing was not available until 1993 after Nancy Wexler’s team discovered the location of the gene that causes Huntington’s disease. As Walter is middle-age, it is not possible that he was expressing symptoms of Juvenile Huntington’s Disease as individuals with this disease often don’t live beyond their 20’s.

Walter: My father fell very ill when I was four or five. He spent a lot of time in hospitals. My mother would tell me so many stories about my father. She would talk about him all the time. I knew about his personality, how he treated people, I even knew how he liked his steaks cooked, medium rare, just like you. I knew things about my father. I had a lot of information. It’s because people would tell me these things. They would paint this picture of my father for me. And I always pretended that that was who I saw too, who I remembered. But it was a lie. In truth I only have one real actual memory of my father.

It must have been right before he died. My mother would take me to the hospital to visit him and I remember the smell in there. The chemicals: it was as if they used up every single cleaning product they could find in a 50 mile radius, like they didn’t want you smelling the sick people. Oh, there was this stench of Lysol and bleach, I mean, you could just feel it coating your lungs. Anyway, there lying on the bed, is my father. He’s all twisted up. My mom, she puts me on her lap, sitting on the bed next to him so I could get a good look at him, but really…he just scares me. And he’s looking right at me, but I can’t even be sure that he knows who I am. And your grandmother is talking, trying to be cheerful, you know, as she does. But the only thing I could remember is him breathing. This rattling sound like if you were shaking an empty spray paint can…like there was nothing in him.

Anyway, that is the only real memory that I have of my father. I don’t want you to think of me the way I was last night. I don’t want that to be the memory of me when I am gone.

Review

Forgetting, for a moment, that genetic testing was not feasible when Walter was a child, coercive genetic testing is another topic that was glossed over quickly within the dialogue. In the United States, it is strongly recommended that genetic counselors only test individuals over 18 years old or legal adulthood. There are a variety of reasons why this recommendation is in place. In respect to Breaking Bad, it would prevent parents, such as Walter’s mother, from testing at-risk, non-symptomatic children without their legal consent. Children are thus protected from discrimination from their parents (intentionally or not) as a result of their test outcomes. Additionally, it is the affected individual’s right to decide if he or she wants to know their testing results, which is why parental coercion is highly discouraged.

In this episode, it is clear that Walt has traumatic memories of his father. Unfortunately, for many children in Huntington’s disease families, childhood can be filled with hardship as many parents become symptomatic at this time. While resources for children dealing with the issues associated with living in an HD family were limited to non-existent when Walt was a child, there are many resources today for children including the Huntington’s Disease Society of America (HDSA) National Youth Alliance and the Huntington’s Disease Youth Organisation (HDYO).

While this episode of Breaking Bad does contain major inaccuracies in terms of genetic testing, it does highlight the impact HD can have on children who watch their parents live with the disease.

KP 2014

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A Review of “The Lion’s Mouth Opens”

Photo Credit to Lucy Walker Film http://www.lucywalkerfilm.com/

Photo Credit to Lucy Walker Film http://www.lucywalkerfilm.com/

Initially Released: 2014
Publicly Available: June 2015
Run length: 28 minutes

“I’ve always felt like I don’t have it”.
This sentence is how Marianna Palka, both subject and producer, begins the new documentary The Lion’s Mouth Opens. This short documentary, directed by Lucy Walker, known for The Waste Land and The Crash Reel, tells Palka’s story of deciding to undergo genetic testing for Huntington’s disease. At just 28 minutes, an expansion from the initial 15-minute version that was premiered at the Sundance Film Festival, The Lion’s Mouth Opens brings viewers into Palka’s circle of friends as they bear witness to her decision to know her HD gene status. The film begins with Palka hosting a dinner party for close friends the night before finding out the results of her genetic testing. As the story continues, viewers are given an insight to Palka’s life, specifically her experience with her father’s HD progression and the impact on her family. The dinner party scenes are interspersed with interviews of Palka, her mother, and Palka’s friend Jason Ritter, as well as home-movies from Palka’s childhood. These scenes seamlessly take readers back and forth between the community space of the dinner party and the painful past of Palka and her mother. The last 10 minutes of the film are dedicated to the hospital visit, and the reactions of Palka and her close friends as they discover her gene status.

As an autosomal dominant disorder, Huntington’s disease in one parent gives every child a 50/50 risk of having the gene mutation that results in HD. Despite this coin-toss statistic, only about 5-10% of those at-risk choose to undergo genetic testing. As one of the few, Palka’s decision to share her genetic testing experience in the form of a documentary is a valuable addition to existing HD literature and film. In her early 30’s and non-symptomatic, Palka expresses disbelief that her gene status is simply a 50% chance. Although the science says the odds are 50/50, for Palka it does not feel that way. The subtlety of this distinction is an important one for clinicians, caregivers, and advocates to consider in regards to genetic testing. For those at-risk, 50/50 is much more than a number, and in no way as simple as the flip of a coin. Palka describes the difference between gene-positive and gene-negative as two completely diverged roads with no middle option. Down one road is a death sentence and down the other is the ability to be “just like everybody else”.

There are many factors that go into an individual’s decision to be genetically tested, including his or her age, family situation, and personal ability to cope with the information. This makes the process of genetic testing a very complicated one, involving multiple appointments as well as counseling. The entire process takes at the very minimum one month, but typically longer. More information on the process of genetic testing can be found here. In addition, issues of confidentiality, discrimination, and the effect on personal relationships are all implicated in an at-risk individual’s decision to discover their HD gene status. As a result, one’s decision to be tested or not is an intensely personal one, and with both options the at-risk individual needs as much support as possible. This level of support is made clear in the dinner scene with Palka and her friends as they share the night and their care with her. During dinner Ritter expresses that, “we’ll all still be here tomorrow and we’ll all still love each other as much as we love each other now.” The Lion’s Mouth Opens shows how difficult it is to go through the process of genetic testing even with an extremely supportive circle of friends and family.

Another theme that The Lion’s Mouth Opens brings up is the nature and implications of Huntington’s disease as a familial disorder. Palka’s father became symptomatic when she was only 8 years old. Palka describes those years of her life as though going from a paradise to hell. Although her father is still alive, he is now a “ghost” of his past self. Palka and her mother describe the disease as cruelly and randomly taking certain members of the family, a genetic “Russian roulette”. For the Palka family, Marianna’s father, sister, and two cousins have all been taken as victims. Towards the end of the film Palka ruminates on the fact that she, her sister, and her cousins — with whom she has shared everything her entire life — may also share this burden of HD. The familial nature of HD often means that there can be multiple symptomatic individuals at one time. This results in an incredible amount of stress and strain on every aspect of a family’s life — emotionally, socially, and financially. Those family members that are early-stage or at risk may be forced to also play the role of caregiver for a late-stage relative. In addition, gene-positive and at-risk individuals must consider decisions around reproduction. Some may already have at-risk children, others may choose to undergo fetal testing, and others may abstain from having children. Reproductive issues and decisions around them are incredibly sensitive and must be addressed with compassion and understanding on the part of family members, friends, and healthcare providers.

A key and intriguing component of The Lion’s Mouth Opens is its title. The phrase comes from a poem titled “Last Thoughts on Woody Guthrie,” written by Bob Dylan for Woodie Guthrie, who died due to complications of Huntington’s Disease and was a long-time inspiration of Dylan’s. The poem itself is about 5-pages long and can be found here. Palka is able to recite the poem verbatim and does so in the film as a series of video clips of individuals affected by HD plays. This moment, about half way through the film, is an emotionally charged one as it brings together visual images of the experience of HD with the powerful lyrics of Dylan’s poem.

This film touches on genetic testing and the familial nature of HD, in addition to several other themes. Despite its range, the film manages to engage deeply with each topic while simultaneously connecting viewers with Palka’s story. Films such as The Lion’s Mouth Opens, which was aired on HBO during HD Awareness Month(June 2015), are essential tools in the continued struggle for widespread HD awareness. Awareness helps decrease discrimination against those affected with HD, and can also help increase research funding for better treatments and hopefully, a cure.

 

Resources
Find Local Resources through the HDSA
Film Website
Information on Genetic Testing
Resources for youth affected by HD

CJE 07/16/2015

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HD in Scrubs

In the season 8 finale of Scrubs, a popular medical TV show, one of the doctors diagnoses a 70-year-old woman with Huntington’s disease. While manifestation of the disease is more common during middle age, presenting symptoms later on is possible. JD, the physician on the show, does his best to explain the disease in a manageable, understandable way without neglecting to mention that the patient’s son, Mr. Stonewater, is also at risk for this genetic disease. JD offers Mr. Stonewater the genetic test that would reveal whether or not he had inherited the same faulty gene as his mother. Mr. Stonewater asks for some time to consider his options.

JD goes through the rest of his day fazed, as he knows how devastating the disease is and how difficult a decision it is whether or not to pursue genetic testing. When Mr. Stonewater informs JD that he does not want to take the test, JD respects his wishes.

Script

Background:

The son, Mr. Stonewater, had told JD that his mom wasn’t acting like herself. When JD tries to examine her she lashes out and accuses him of trying to attack her. JD comes back later with a diagnosis.

Dialogue:

Stonewater: She has Huntington’s disease?

JD: It’s a degenerative brain disease, causes you to lose control of your movement and mental ability. It can also change your personality like with your mom.

Stonewater: So what do we do?

JD: Unfortunately, there’s no cure. Eventually it will take her.

Stonewater: Oh geez.

JD’s internal monologue: Sometimes, you just have to barrel through no matter how much it sucks.

JD: And Mr. Stonewater, Huntington’s is caused by a faulty gene. And since your mother has it, you have a 50/50 chance of having it too. We can test you for it if you want.

Stonewater: If we find out that I have it early on, are there any treatment options?

JD: Nothing substantial yet. I can only tell you if you have it, can’t even tell you when the disease would hit you if you do have it. Could be in your 70’s like your mom or…

Stonewater: Could be sooner.

JD: Could be sooner. I’m so sorry.

Stonewater: Can I have a few minutes?

Next scene:

JD internal monologue: I’m so bummed about Mrs. Stonewater that I totally spaced and forgot what was wrong with Benjamin here. Is he the one with broken ribs? Nope. Maybe he’s the guy with sinus polyps. I don’t think there’s any polyps but he definitely has some oily skin issues. I should turn him on to that awesome apricot scrub I stole from Elliott. Come on, focus!

Next scene:

In an argument with Elliott, a fellow hospital employee and JD’s girlfriend

JD: NO, Elliott. I’m upset because Huntington’s disease sucks, Dr. Cox is a jerk and I’m such a crappy doctor I just got dumped by a patient. And nobody but you and Turk care that I am leaving.

Later, JD encounters the patient in the hallway as he explores the challenges of offering the genetic test for Mr. Stonewater.

JD’s internal monologue: Sometimes it’s deciding that you don’t want to know if you have a fatal disease.

Stonewater: Dr. Dorian, I decided not to take that test.

JD: Ok.

(JD walks away from the patient in a haze of his own internal monologue)

End scene

In this case, it is unusual for a doctor to recommend the genetic test without explaining the formalities that accompany it—genetic counseling, psychiatric and neurological evaluations as well as a blood draw. These aspects of genetic testing, along with the risks—discrimination, insurance spikes, depression, etc.—were probably not included in this episode due to the nature of the show (entertainment versus documentary). We would like to clarify that doctors should always explain the full process of genetic testing before offering it, especially if someone has only been recently introduced to the disease. Other than the exemption of these facts, JD does not misinform Mr. Stonewater about his genetic risk or the fate of his mother and explains the facts clearly and succinctly.

However, as you can see from JD’s internal monologue, genetic testing can be a complicated decision even for the medical professionals. Genetic counselors, neurologists, and psychiatrists all work together to determine a patient’s ability to handle an HD genetic testing. They must consider the ramifications of the test and the results potential impact on the health of the patient, which might include risk of suicide or depression. These professionals often face great stress upon the reveal of the results, as they are all too aware of the implications of the test. We can see the type of strain this places on JD as he emphasizes with Mr. Stonewater’s tough predicament.

Within the context of a medical drama TV series, this episode overall accurately portrays the difficulties for the patient, the family, and the physician involved in dealing with the realities involved in dealing with the delivery of an HD diagnosis.

KP 2014

 

 

 

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HD in ER

ER is a medical drama television series.

Summary

In the Season 9 Episode “Insurrection,” a late-stage Huntington’s disease (HD) patient is rushed into the Emergency Room (ER) of a hospital. The ER is in chaos during this episode, as doctors and nurses walkout to protest unsafe working conditions. Inside the hospital, the absence of staff makes it easy for the desperate mother of the patient to switch off the ventilator that is supporting her son’s breathing. To her, this action is probably one of mercy, as she knows her son’s Huntington’s disease will only continue to progress.

When Dr. Lewis discovers what the mother has done, she decides not to press murder charges in order to protect the mother from prison.

Dialogue

Background: The ER receives a patient with end stage Huntington’s disease. He fell out of bed and potentially broke his hip.

ER doctor: What do we know?

Another doctor: Huntington’s, starts in your early 30’s and 40’s starts with your emotional ability and depression, leads to a progressive loss of motor control and loss of cognitive function.

Later: The patient is having sudden troubles unrelated to his hip. His mother is there. She apologizes to him for the quality of the nursing home and says it was the best she could find. She doesn’t have much money to pay for quality care. The mother keeps pointing out how much her son is suffering and begs the doctors to help him. Later on, he chokes on vomit and they want to put in a tube despite the scars in his pathways from a ventilator a few months ago. The mom asks “That’s it right? When you put that tube in, it’s not coming out, right?”

At one point, tthe patient needs to go to the operating room. The mom asks Dr. Susan Lewis if she knows what it is like to watch someone die for 25 years.

Mother: It’s what I did with his father every day. I loved the man, but I hated what it did to him.

Doctor Susan Lewis: I can refer you to another nursing home. I don’t know what you are paying now.

Mother: He was a singer, didn’t you know? An opera singer, a tenor? When he sang, it was the most beautiful sound in the world. I prayed it would pass him over. When he got to be 29, I thought, my God maybe we got lucky. Then he started having trouble at work. Forget things and when he talked sometimes he was hard to understand. And of course…of course he couldn’t sing anymore. It just takes everything away. Everything.

Next scene: During the walk out in which many of the doctors are protesting unsafe working conditions, the mother turns off her son’s ventilator. Doctor Lewis comes back in and turns on the ventilator to prevent suspicion. She hides the patient’s true cause of death in order to protect the mother.

Review

ER is intended to be a medical drama. In its effort to emotionally influence viewers, ER often neglects to explore the ethical implications of the characters’ actions. In this episode a distraught, desperate mother watches her son suffer as the doctors attempt, not to cure or treat his symptoms, but extend and hopefully improve his quality of life.

The mother has been a caregiver for a long time. She had to care for her husband until he passed away, and her son as well. She expresses the difficulty of watching a loved one lose the ability to do things he or she enjoys like opera singing, in her son’s case. This episode shows the challenges facing caregivers and the emotional burden resulting from decades of caring for those affected by the disease.

This episode highlights end-of-care controversies for HD patients such as death with dignity or assisted death. There are currently only four states that have Death With Dignity Laws–Washington, Vermont, California and Oregon. These laws allow mentally competent, terminally ill adult state residents to hasten death using prescribed euthanasia medication.1 This choice is complicated one for the HD community; Qualifications such as “mentally competent” might be defined in various ways among physicians, patients, and family members as HD does cause cognitive and psychiatric issues.

Suicide or assisted suicide are major issues in the Huntington’s disease community. In fact, suicide is often the leading cause of death among those who have inherited the mutant gene. Because of the gravitas of these actions, it is extremely important that health care providers do all they can to understand the psychological impacts the disease has on the individual as well as family members. In addition to health care providers, caregivers and family members should be well-educated on what to do if their loved one is experiencing suicidal ideation.

Dr. Lewis did not follow proper procedure upon discovering what the mother had done. She altered the cause of death to avoid focusing any suspicion on the mother. Dr. Lewis neglected to follow protocol in order to protect the mother from legal ramifications. While this might be an exception a doctor would make in a TV drama, it is not something that should be expected of any physician. Patients and caregivers should have an open dialogue with primary care doctors to discuss end-of-life options such as “Do not resuscitate” (DNR) or preventing the use of feeding tubes.

The subject matter in this episode of ER is heavy. It highlights the burden on caregivers and why family members might consider options such as assisted suicide. If you are a Huntington’s disease caregiver, you can find resources and support networks by visiting hdsa.org/living-with-huntingtons/family-care/caregivers.html

Works Cited

  1. “Defend Dignity. Take Action.” Death with Dignity National Center. N.p., n.d. Web. 11 Aug. 2014.

KP 2015

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Breaking Bad

Breaking Bad is a popular U.S. crime drama television series that aired from 2008 to 2013. The main character, Walter White Jr., discovers that he has inoperable lung cancer and decides to sell methamphetamine in order to secure his family’s financial future when he passes.

In an episode titled Salud, Walter’s son is celebrating his 16th birthday. Unfortunately, Walter is less than able to celebrate with him due to various self-inflicted medical problems. The next morning, he sits his son down to tell him about a childhood memory that has always haunted him.

The Dialogue

Walt: My father died when I was six. You knew that right?

Son: Yeah.

Walt:

He had Huntington’s disease; it destroys portions of the brain, affects muscle control, leads to dementia, it’s just a nasty disease. It’s genetic. Terrified my mother that I might have it so they ran tests on me when I was a kid, but I came up clean.

My father fell very ill when I was four or five. He spent a lot of time in hospitals. My mother would tell me so many stories about my father. She would talk about him all the time. I knew about his personality, how he treated people, I even knew how he liked his steaks cooked, medium rare, just like you. I knew things about my father. I had a lot of information. It’s because people would tell me these things. They would paint this picture of my father for me. And I always pretended that that was who I saw too, who I remembered. But it was a lie. In truth I only have one real actual memory of my father.

It must have been right before he died. My mother would take me to the hospital to visit him and I remember the smell in there. The chemicals: it was as if they used up every single cleaning product they could find in a 50 mile radius, like they didn’t want you smelling the sick people. Oh, there was this stench of Lysol and bleach, I mean, you could just feel it coating your lungs. Anyway, there lying on the bed, is my father. He’s all twisted up. My mom, she puts me on her lap, sitting on the bed next to him so I could get a good look at him, but really…he just scares me. And he’s looking right at me, but I can’t even be sure that he knows who I am. And your grandmother is talking, trying to be cheerful, you know, as she does. But the only thing I could remember is him breathing. This rattling sound like if you were shaking an empty spray paint can…like there was nothing in him.

Anyway, that is the only real memory that I have of my father. I don’t want you to think of me the way I was last night. I don’t want that to be the memory of me when I am gone.

Son: Remembering you that way wouldn’t be so bad. The bad way to remember you would be the way, the way you’ve been this whole last year. At least last night you were real, you know?

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While it is great that Breaking Bad is introducing millions of viewers to Huntington’s disease, there is always a risk of misinformation or stereotyping in entertainment media. In this episode, the most glaring mistake is the comment Walter makes regarding his genetic testing for the disease.

Walter stated that his mother was so scared of Walter Jr.’s at-risk status; she had tests run on him when he was six years old. However, the historical timeline is skewed. In order to test for Huntington’s disease prior to symptom expression, an individual must undergo genetic testing. However, predictive genetic testing was not available until 1993 after Nancy Wexler’s team discovered the location of the gene that causes Huntington’s disease. As Walt is middle-age, it is not possible that he was expressing symptoms of Juvenile Huntington’s Disease as individuals with this disease often don’t live beyond their 20’s.

In the episode, Walter notes that he tested negative for the disease when he was a child. However, genetic testing had only been available for about 15 years. If Walter had been able to test before his sixth birthday, he would have to be no older than 21 years old, assuming this episode took place in 2008. Walter is a middle-age adult with a 16-year-old son so there is no way genetic testing would have been possible at the time he said it was.

Forgetting, for a moment, that genetic testing was not feasible when Walter was a child, coercive genetic testing is another topic that was glossed over quickly within the dialogue. In the United States, it is strongly recommended that genetic counselors only test individuals over 18 years old or legal adulthood. There are a variety of reasons why this recommendation is in place. In respect to Breaking Bad, it would prevent parents, such as Walter’s mother, from testing at-risk, non-symptomatic children without their legal consent. Children are thus protected from discrimination from their parents (intentionally or not) as a result of their test outcomes. Additionally, it is the affected individual’s right to decide if he or she wants to know, which is why parental coercion is highly discouraged.

In this episode, it is clear that Walt has traumatic memories of his father. Unfortunately, for many children in Huntington’s disease families, childhood can be filled with hardship as many parents become symptomatic at this time. While resources for children dealing with the issues associated with living in an HD family were limited to non-existent when Walt was a child, there are many resources today for children including the Huntington’s Disease Society of America (HDSA) National Youth Alliance and the Huntington’s Disease Youth Organisation (HDYO).

While this episode of Breaking Bad does contain major inaccuracies in terms of genetic testing, it does highlight the impact HD can have on children who watch their parents live with the disease.

KP 2014

 

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HD in Twitch: The Documentary

This documentary follows 18-year-old Kristen Powers as she undergoes the process of genetic testing for Huntington’s Disease. The documentary premiered at Stanford University on February 21, 2014. More information about the film and its screening schedule can be found at www.twitchdocumentary.com.

In the documentary Twitch, filmmaker Kristen Powers tells the story of her own journey with Huntington’s Disease and her decision to get tested for the HD gene. The documentary walks audiences step-by-step through the genetic testing process, starting with Kristen sharing her family’s history with HD and ending with her receiving the test results that will reveal whether or not she carries the gene for the disease that claimed her mother’s life at the age of 45.

The film, which has a run time of slightly under 45 minutes, contains a series of interviews with Kristen’s friends and family members, as well as a series of video diary entries from Kristen herself. These vignettes provide insight into some of the emotions experienced by individuals and families affected by HD. Twitch also contains many photographs and home videos of Kristen’s mother, Nicola, that provide viewers with a glimpse into her life before and after being diagnosed with HD. The footage reveals Nicola’s awkward gait, one of the first signs that led the family to realize something was wrong, and includes scenes from the nursing home where she spent her final days.

In addition to sharing the Powers family’s personal HD story, Twitch also features interviews with several others with family histories of HD, and is careful to provide examples of at-risk individuals who, like Kristen, have chosen to get tested alongside the stories of those who have chosen to refrain from testing. The documentary makes it clear that the decision to undergo genetic testing is a deeply personal choice, and that an at-risk individual’s autonomy and decision should be respected. Twitch also contains an interview with, and a look into the life of, an individual who has been diagnosed with HD, thereby providing audiences with an opportunity to see what it means to be symptomatic.

The documentary also does a fine job of maintaining medical accuracy throughout. Interviews with several medical professionals, including a neuroscientist who walks viewers through a series of graphics that discuss the science behind HD inheritance and the huntingtin protein, are present throughout the film and are an accurate depiction of our current understanding of HD.

The one thing that viewers should be aware of when watching the film is that Kristen’s genetic testing process was accelerated for the purposes of the documentary. Those who watch the film may notice that the time between her appointments seems to go by fairly quickly, so it is important to note that while specific procedures vary between testing centers, there can be a waiting period of several weeks in between pre-testing appointments. Other than this, however, Twitch does a good job of providing its viewers with a look into what it means to be a member of a HD family, and what the process of genetic testing is like. The documentary is factually accurate, and doesn’t make any exaggerated claims about HD.

Disclosure: Kristen Powers is a Stanford University student and a HOPES student researcher. However, Twitch is a completely independent project of Kristen’s that is not affiliated with HOPES, and Kristen played no role in the writing of this article.

R. Reddy 2014

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HD in the New York Times: "The DNA Age – Facing Life with a Lethal Gene"

This article was published on March 18, 2007 on the front page of the Sunday edition of The New York Times. The full article can be found here.

In 2007, the Sunday edition of the New York Times had a circulation of approximately 1.6 million. This meant that on Sunday, March 17 of that year, millions of readers across the world were introduced to Huntington’s disease (HD) by the front page article that was titled “The DNA Age – Facing Life with a Lethal Gene.”

The article, which ran at nearly 5000 words long, told the story of 23-year-old Katherine Moser, who had just tested positive for the gene for HD. Moser first became aware of the fact that HD ran in her family when her great uncle was diagnosed with the disease. Her own maternal grandfather began showing symptoms at the age of 50, but Moser’s mother refused to get tested, despite the fact that two of her sisters did (one sister tested positive and the other tested negative).

In the article, Moser explains that her mother did not want her to get tested either because if she tested positive, that meant that she must have inherited the gene from her mother. So Moser’s test results had implications not only for herself, but for other members of her family as well.

Eventually, after completing college and distancing herself from her mother, Moser made the decision to be tested at Columbia University Medical Center in Manhattan, and found out that her “CAG number” was 45, thereby indicating that her body contained the altered form of the huntingtin protein and that she would eventually start showing symptoms of HD.

Moser goes on to live life with the knowledge that she will eventually be developing HD. She actively chooses not to get married, works toward paying off her student loans as quickly as possible, and does what she can to seek support and teach others about HD. The article details her journey.

Despite only focusing on one individual who has yet to show the symptoms of HD herself, this New York Times article is fairly medically accurate in its description of the disease. The article provides a brief but factual description of HD as a trinucleotide repeat disorder by stating that on the fourth chromosome, “the letters of the genetic alphabet normally repeat C-A-G as many as 35 times in a row. In people who develop Huntington’s, however, there are more than 35 repeats.” It does, however, fail to mention the nuance that while individuals with 40 or more repeats do have the altered huntingtin protein, outcomes vary for individuals with 36-39 copies. However, this technicality doesn’t really come into play since it is revealed that Ms. Moser has 45 repeats.

With respect to maintaining medical accuracy, it is also important to note that while the article and the quotes contained in it refer to HD as the gene or disease that will kill Ms. Moser and other members of her family, medically speaking most people with HD do not die as a direct result of the disease. Rather, they tend to pass away from problems that arise as a result of the degenerative effects that HD has on the body. HD patients tend to die from an inability to fight off medical conditions such as infections and pneumonia.

The article does, however, do a good job of properly describing HD symptoms in a way that makes sense to the general public. Rather than using terms such as chorea to explain the uncontrollable movements that can manifest during the onset of HD, the article simply states that HD causes “cell death in the brain, leading Huntington’s patients to jerk and twitch uncontrollably and rendering them progressively unable to walk, talk, think and swallow.”

As mentioned above, in addition to medical aspects of the disease, the article delves into living with the knowledge of being positive for HD, and how that affects an individual’s decision making. Moser describes the various emotional stages that she went through after receiving her test results, including anger and an inability to face HD patients at the nursing home where she worked, but she makes it clear that she does not regret making the decision to get tested. However, the article does not make light of the genetic testing and explains to readers that choosing to get tested is a serious decision, and it is revealed that Ms. Moser was required to attend genetic counseling sessions and see a psychiatrist before getting tested.

Another important aspect of the article is that it discusses the family planning issues that arise after HD is diagnosed. Moser comments on how difficult she finds dating to be now that she knows she will develop HD in the future and she even mentions seeing a therapist who tells her that it is her “moral and ethical obligation not to have children.” This statement by her therapist is unfair and biased, and the article does touch upon that, mentioning that there are now new reproductive technologies, such as prenatal diagnosis and preimplantation genetic diagnosis, that can allow couples to ensure that their children will not have HD. However, options such as adoption, surrogacy, and sperm donation are not discussed.

Overall, the article provides an effective overview of life with HD for the general public, and serves its purpose in educating the masses about both the medical and lifestyle aspects of HD.

R. Reddy 2013

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HD in the Media

Welcome to our Huntington’s Disease (HD) in the media section of the HOPES website!

Despite the fact that many people are not completely aware of HD and how it works, the disease has become one of the favorite “dramatic diseases” of mainstream news media and the entertainment industry. References to HD in popular culture include, but are not limited to, books (as evidenced by our site’s Literature Corner), television shows, films, radio programs, and newspaper articles.

The purpose of this section of our website is to approach all depictions of HD in the media with a critical lens media outlets often dramatize their depictions of medical conditions in an attempt to draw in viewers and readers. Symptoms are portrayed as much worse than they are in reality, incorrect diagnoses are provided, and false information is presented to audiences around the world.

To correct these misconceptions, members of the HOPES team will be going through various depictions of HD in the media to determine what aspects of HD are presented properly and what aspects are misrepresented. This section includes a synopsis of the media’s depiction of HD as well as a discussion of whether it was realistic and medically accurate.

While there are instances in which the popular media can be a helpful and accurate source of information, we hope this section of the site will remind you that is important to be cautious when obtaining your facts from these sources.

Feel free to use the site’s Contact Us form to provide us with the names of television episodes, movies, documentaries, etc. that you would like to see reviewed for this section.

1. HD in the New York Times

2. HD in Scrubs

-R. Reddy, 7-10-13

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