I Want to Help But You Won’t Let Me

Joseph Johnson, Wake Forest University School of Law J.D. Candidate ’23

10 years old

Dear Diary,

I finally had my birthday party today! I have been waiting FOREVER for it. It feels like I have been 9 for two years at LEAST! But I am finally 10! Double digits! It was so much fun and I spent almost all day with my friends. I am so happy that Mom and Dad let me start the party at 12 instead of 2 because I wanted it to last as long as possible. I can’t wait to go to school to tell everyone about it. Mom and Dad even got a huuuge banner that said “Happy 10th Birthday Macy!” in big pink letters. Plus they finally got me an iPad! I hope they let me bring it to school. This was the best day ever! Well I better go to bed soon because Mom wants me to go to the grocery store with her tomorrow morning. I hope she feels better tomorrow. I saw her crying when she was talking to Dad this morning, but she said nothing was wrong. Then she acted all weird the rest of the day. Anyway, I am going to bed now. I am so tired after the best birthday ever! 

Macy, an only child, had always been the light in her parents’ lives and the subject of profuse spoiling. What Macy wanted, she got. This had not, however, turned Macy into the spoiled rotten child one would expect. She was a kind and caring girl, who showed thoughtfulness and compassion toward her family and peers every day. Macy’s bright and loving disposition made it even easier for her parents to continue to spoil her, since it was so difficult to say no to her.

However, Macy’s parents, Sarah and Bruce, began the morning of Macy’s birthday lying next to each other in bed with much more on their minds. Just one day earlier, Bruce had gotten a call from the genetic counselor’s office letting him know that his test results had come in. It was a long-dreaded day for him. He was able to schedule something for the following day, which was good and bad. He was relieved because it meant he would only have to wait one day, but the thought of having to go to the appointment on Macy’s birthday made the timing bittersweet. Regardless, he scheduled the appointment. Before he hung up, the administrator speaking to him reminded him that they required in-person appointments to deliver all test results, regardless of the test outcome, and that it was best to bring a loved one with him to the appointment.

The following morning, Bruce and Sarah arrived to the genetic counselor’s office on edge. Not only was Bruce facing the possibility of life-altering news, but they both lamented having to spend the morning of Macy’s birthday away from her. Eventually, the office administrator brought them back to the counselor’s office. It was a surprisingly comfortable space, far from the sterile, white setting of most medical appointments. Several plush chairs surrounded a short coffee table, and the room featured oil paintings on the walls, a large window, and several potted plants. It felt more like a homey living room than a professional’s office. Above a desk in the corner of the room were several certificates and diplomas bearing the counselor’s name: Diane Warner. Bruce and Sarah felt themselves breathing slightly easier here than in the waiting room. Ms. Warner arrived shortly after they were seated. She was a middle-aged woman with a kind face, wearing a navy sweater instead of the white coat Bruce anticipated.

“Thank you for coming in today,” she began. 

***

14 years old

As she grew up, Macy found out about her father’s diagnosis.  Now an intrepid teenager, no longer a little girl, she could put two and two together and see that something was going on with her father: weird behavior after medical appointments, hushed discussions between her parents, and her father’s obsessive attention to his health. She remembered one conversation with her parents vividly. Her parents had just returned from a doctor’s appointment, and they both looked sullen. She had suspected for a while that something was going on but had not yet mustered the courage to ask them what it was. Did she really want to know, if whatever was going on bothered her mom and dad so much?  But that day she decided she could wait no longer, particularly because she hated seeing them so upset.

“Dad, what are these appointments at the doctor all the time for?” asked Macy. 

“It’s nothing. I’m just making sure I stay healthy.” He gave her the same rehearsed response he always had ready when she asked about his appointments. 

“No, seriously, Dad. I want to know,” Macy insisted. 

“Macy, please. It’s not something for you to worry about.” 

“I am old enough to know about what’s going on, whatever it is. You guys act weird after every appointment, and I want to know.” Macy was not used to not getting her way. 

Her dad paused, rubbed the back of his neck and sighed, “Alright… Let me go get your mom from the patio, and we’ll talk,” her dad said with a resigned tone.  

Macy’s dad finally told her that he had Huntington’s Disease. She and her parents sat and talked for nearly two hours, trying to get all of Macy’s questions answered. 

Bruce told Macy that Huntington’s is a neurodegenerative disease that, over time, breaks down cells in the brain. He went on to tell her that the genetic nature of Huntington’s is why he was able to find out that he had it before he showed any symptoms of the disease—he called this being “premanifest.” He also told her that some people decide not to have the test done and simply live their lives not knowing whether or not they have the disease. These people find out that they have Huntington’s Disease only if symptoms arise—he told Macy this is becoming “manifest.” Typically, the onset of Huntington’s symptoms is around forty years old. Macy listened carefully but felt overwhelmed. 

“Wait a minute. Slow down. How did this all start? Why did you even get the test?” Macy interjected. Her father’s eyes welled up with tears, and he got choked up. Macy’s mom hesitantly answered the question. 

“That, uh…well, goes back to the fact that the disease is genetic,” she began gingerly. “Since the disease is a problem with genes, that means it can be passed down from your parents. So your dad inherited the gene problem from his dad.” Sarah explained that the disease is autosomal dominant, which means that if a child has one parent with Huntington’s, the child has a fifty percent chance of having the disease as well. 

“So my grandpa had the same gene problem?” Macy asked. She only had a few vague memories of her grandfather. All she really knew about him was that he had passed away in a car accident when she was younger, according to her parents. 

“Yes, he did. And since he had it, there was a chance that your dad might have it. That is why he got tested.” Sarah was very nervous about the direction the conversation was taking. Inevitably, Macy began asking about her father passing it to her, if she had the disease, what it meant if she had it, and if she could get the same test. It was Sarah and Bruce’s turn to be overwhelmed. They answered her questions as thoroughly as they could but eventually ran out of answers. Ms. Warner had warned them this conversation would happen one day, and told them that she would be more than happy to meet with Macy when it did. They took her up on that offer and scheduled an appointment for the three of them to meet with her in two weeks. 

***

Macy was not sure whether she felt better or worse after the appointment with Ms. Warner. Of course, she had learned more about Huntington’s Disease and was relieved not to be in the dark any longer. She had also learned that in addition to her role as a genetic counselor, Ms. Warner was a licensed therapist, and was able to provide psychological therapy to Macy on a regular or as-needed basis. Macy was relieved, because it meant she would not have to try to explain her situation to someone else. She decided that right now she did not need regular appointments with Ms. Warner, but was comforted with the knowledge that it was available if her feelings changed. 

All this new information about Huntington’s felt like a heavy burden. She had so much more to think and worry about now. Ms. Warner had told Macy that the disease was “heritable.” This meant that the disease could be passed from a parent who has the disease to their children. Of course, Macy immediately panicked and assumed the worst. Her fears were only somewhat alleviated by what the genetic counselor continued to tell her. It was not certain that Macy would have Huntington’s because only her father has the disease, so there was only a 50% chance that she also has it. And while Huntington’s is a rare disease to start with, it is exceedingly rare for it to appear in juveniles. 

Macy asked about getting the same test that her father got but was told that testing is typically not completed until after a person turns 18. Macy was frustrated by this and dismissed Ms. Warner’s explanation that it can be challenging for children to understand the situation and that this restriction is put in place to prevent anyone from influencing a child to get tested. Macy did not feel like a child, and she certainly felt like she knew enough to make decisions for herself. 

***

The next day, Macy sat on her bed trying to digest all the news she had gotten from her parents and Ms. Warner, as well as what she had found out by doing her own research. A quick Google search yielded a mind-boggling amount of information on Huntington’s. She spent hours scrolling through dense pages about the disease.

The disease is caused by a genetic mutation to the HTT gene. This mutation causes a sequence of three nucleic acids, cytosine, adenine, and guanine, to repeat an unusual number of times in the HTT gene. Each additional repetition of cytosine, adenine, and guanine is called a “CAG repeat.” An unaffected individual will have about twenty CAG repeats, but someone with Huntington’s will generally have forty or more CAG repeats. Generally, a higher number of CAG repeats is associated with an earlier onset for the disease, and paternal inheritance of the disease is associated with increased CAG repeats. The genetic test for Huntington’s analyzes one’s genetic material to identify the number of CAG repeats present in the HTT gene. Anyone who inherits the HTT mutation will eventually develop the disease. 

Of course, she also wanted to know what the disease does to someone who inherits it. Huntington’s has three broad categories of symptoms: motor symptoms, cognitive symptoms, and psychological symptoms. The motor symptoms are usually the first to be noticed and generally emerge in a person’s forties or fifties. Huntington’s causes a symptom known as chorea, which consists of irregular, involuntary movements. These involuntary movements worsen as time goes on and are typically joined by other physical symptoms like abnormal eye movement, trouble controlling voluntary movements, and issues with walking and balance. To make things worse, cognitive and psychological symptoms usually emerge over time as well. These often include irritability, apathy, impulsivity, and cognitive decline. 

“Somehow,” Macy pondered, “none of those things are even the worst news I got about Huntington’s.” There was no cure or treatment available for the disease itself. If you’ve got it, that’s that, and there’s no changing it. Macy hated how helpless she felt through all of this. She had a 50% chance of getting this horrible disease, she could not get tested for it, and if she did have it, there was no cure. Ms. Warner had explained to her that while there was no cure for the underlying disease itself, there were many treatments available to manage the symptoms, both physical and emotional. Similarly, Huntington’s itself was not a terminal disease—that is, the disease itself will not kill you. Most people with the disease eventually die from co-existing health issues. However, as the disease progresses, symptoms continue to worsen and additional symptoms may arise, such as incontinence, weight loss, speech difficulty, mobility issues. Macy was not sure it had been a good idea after all to insist that her dad tell her what was going on. 

***

17 years old

The years following the discovery of her HD risk were emotionally tumultuous for Macy. The stress of being a teenager was only compounded by her knowledge of her father’s Huntington’s that lingered in the back of her mind at all times. She found herself cycling through emotion after emotion. She often went through periods where all she felt was envy for those around her, who didn’t have anything to worry about. She wished that her biggest concern was what dress to wear to the homecoming dance and how to celebrate the newfound freedom that was a driver’s license, like her classmates at school. 

Other times it was dread. Sometimes sadness. Occasionally anger, directed at her parents primarily. Why did her father decide to have a child if he knew that he might have Huntington’s? Why did his mother agree? Why didn’t he get tested before having a kid? Didn’t they realize what effect this had on her? If her dad had adamantly refused genetic testing, then why hadn’t they taken the in vitro fertilization route? Macy had done plenty of research on her own by this point. She knew that IVF for family planning was available to couples affected by Huntington’s. Following IVF but prior to implantation, preimplantation genetic diagnosis can be performed to determine whether the fertilized egg carries the gene that causes Huntington’s. This means that a couple can be certain their child is born without the disease without having to determine their own genetic status. From time to time, Macy felt, but never expressed, resentment toward her parents for not having taken advantage of this option. She continued to see Ms. Warner every so often for psychological therapy sessions, to express these feelings, get validation that she was not alone or unusual for someone in this situation, and to hear about how other people have coped with similar emotions.

What Macy did not know was that many related concerns hovered in the back of her parent’s minds—and often made their way to the forefront. Her parents both felt guilt about the possibility of Macy inheriting Huntington’s Disease, but for Bruce it was more severe and more frequent. He and Sarah had not known about his Huntington’s when Macy was conceived. Bruce’s father’s symptoms had arisen after Macy was born, but he had passed away in an automobile accident only a few months after his diagnosis. Bruce and Sarah were, of course, incredibly concerned about Macy’s potential for inheriting the disease, but knew there was little to do about it at this point. However, they were keenly aware of their ability to avoid creating the same issue again. Years ago they had hoped to have another child, which was what prompted Bruce to finally get the genetic testing for Huntington’s Disease. When they found out that Bruce had indeed inherited the genetic mutation from his father, they decided against having another child. Medical professionals informed them of the availability of IVF and preimplantation genetic diagnosis, but it was prohibitively expensive for the couple at the time. Macy was destined to remain an only child.

***

Macy had remained concerned about the possibility of juvenile Huntington’s and had her parents arrange an appointment with a neurologist for an evaluation. Macy’s mother found a neurologist specializing in movement disorders a few hours away, but she and Macy determined it was worth the drive because she was willing to see a seventeen-year-old. 

The neurologist, Dr. Burton, completed a brief motor examination during the appointment, looking at Macy’s coordination, balance, gait, and muscle rigidity. Next, she thoroughly questioned Macy and her parents about any perceived changes in Macy’s personality, emotional state, behavior, school performance, executive control, and memory. Macy was surprised at how behavior- and emotion-focused the exam was. Dr. Burton explained that behavioral symptoms and emotional symptoms are typically early signs of juvenile Huntington’s and that certain motor symptoms, like chorea, are much more common in adults than in children. After the lengthy evaluation, Dr. Burton told Macy and her parents that she could confidently say that Macy showed no signs of juvenile Huntington’s. All three of them breathed a long sigh of relief. Dr. Burton told them that she saw no reason to schedule a follow-up at this point, but that she was more than willing to see Macy again if something new emerged. 

On the way out of Dr. Burton’s clinic, Macy picked up a pamphlet from the check-out desk that promoted clinical trials. Dr. Burton worked for a research hospital, so the pamphlet mentioned some of the practice areas in their system that performed studies and pointed patients to clinicaltrials.gov to locate other research conducted elsewhere. Macy had come across several websites that referenced clinical research while doing her at-home sleuthing on Huntington’s but didn’t know much about it.

Macy spent the next day looking into what clinical research was, how it was conducted, and what kind of research was being done on Huntington’s Disease. She found there was a vast range in the types of research that could be performed. Some research was conducted to evaluate a treatment method, like a medication; some studies were targeted toward how best to diagnose certain disorders; other research sought to find a way to prevent certain maladies. All research studies on medications were further divided by phase. Phase I involved small groups of people and looked at the safety of the medication. Phase II used a larger group of people and evaluated the efficacy of the drug. Phase III tested an even larger group of people and further considered efficacy and side effects. Finally, Phase IV studies are performed after a medication has been approved by the FDA and gather additional information. 

Macy was fascinated by the prospect of participating in a research study and playing a role in the discovery of new information or treatments on Huntington’s. She navigated to clinicaltrials.gov and fiddled with the various filters, seeing what studies were available under what categories. Out of curiosity, she narrowed the geographic range to near her home.

Lo and behold, a university hospital near her was recruiting for a Phase II Huntington’s study! Macy clicked on the study and looked further into the details. It looked like the study was a longitudinal expansion on a drug study that was recently completed. The drug showed promising results in reducing motor symptoms in adults with manifest Huntington’s. The pharmaceutical company wanted to expand its use to young people with premanifest Huntington’s to explore its use as a prophylactic treatment. Macy was cautiously hopeful about participating in the study because, first, she knew many studies were restricted to adult participants only, and she was still only 17. This particular study stated only an upper age limit of thirty years old. Second, despite what her anxiety about having the disease told her, she had no idea if she had Huntington’s. However, she knew that if she happened to carry the gene, she would try anything available that might stop, or at least delay, the emergence of any symptoms. Macy knew she better do some additional research before broaching the topic with her parents. 

Macy stayed busy the next few days, reading up on the study and regulations regarding children in research. She found out that the study did allow participants that were 16 or older. However, she also found that studies involving minors required consent from the child’s parents in addition to the child’s own assent. Macy found the concept of “assent” in conjunction with parental consent to be ridiculous. What value did her assent hold if the decision was ultimately up to her parents? She was 17—less than one year from being a legal adult, and she was still stuck under her parents’ thumb. She dived further into the labyrinth that was clinical research regulations to see if there was any way around this requirement. There are some circumstances in which the Institutional Review Board for the hospital conducting the study can waive the requirement for parental permission—but this was wholly dependent on the nature of the study. Macy had a feeling that an experimental drug was not one of the conditions under which the IRB would waive the requirement for parental permission. To make sure, Macy called the phone number given on the clinicaltrials.gov listing for the study the following day. 

“Hello, thank you for calling the Center for Clinical Research. To whom do I have the pleasure of speaking?” a woman’s voice said over the phone. Macy introduced herself and explained her position and her questions about the consent and assent requirements for the study. The woman on the phone told her that she would have to speak to the study coordinator and placed Macy on hold. After a few minutes, a man picked up the phone. 

“Hello, Jim Evans speaking.” Macy introduced herself to Jim, and Jim explained that he managed the recruitment and consent process for the study. Macy again explained her position and her inquiries about the consent process. Jim was happy to answer all of Macy’s questions and told her that her intuition was correct—the study indeed required parental permission for 16- and 17-year-olds. He highlighted that since this was a medication study, the risk involved was deemed “greater than minimal.” Thus, parental consent was essential. Jim offered his contact information, which Macy took down, and told her to feel free to reach out to him with any other questions. After hanging up the phone, Macy took a deep breath and went to speak to her parents. It was not exactly how she planned to spend her Friday night.

Macy was nervous to share the information with her parents, and did not have high hopes for positive reception from them. She relayed all the information she had about clinical research in general, the study itself, and the results of the previous arm of the study. Initially, her parents were as receptive as a brick wall. They shot down the prospect of Macy’s participation immediately. The issue seemed to be, primarily, that Macy would have to have the genetic test for Huntington’s before moving forward with the study.

“Macy, this is not a good idea,” her father told her. 

“You’re only 17, honey. This isn’t something you should be worrying about,” her mother chimed in. 

“I am worrying about it anyway! I think about it every day! The tiniest things make me so anxious already. I think everything is a symptom and that it must be a sign that I am a carrier and my symptoms are manifesting early. Let me get the test,” Macy retorted. 

“Trust me. I know where you are coming from,” her father reached over and took her hand. “I know what you are feeling. I know what it’s like to see your dad diagnosed with an incurable disease. I know it well,” Bruce uttered, somewhat woefully. “But this is not something to make a rash decision about. Teenagers aren’t known for rational decision making. I would hate for you to get the results and then regret having the test done.” 

“That should be my decision, not yours,” Macy shot back indignantly, pulling her hand away from his. “And besides, that’s the point of the study! So that getting this diagnosis is not as bad as it is now. Even if the outcome is just a little bit better. But there’s no way to know if this drug can change people’s lives without studying it.”

“Macy, I don’t want them to use you like some kind of lab rat!” her mom cried, visibly stressed by the thought. 

“I have the chance to help other people! I want to help! I want to help but you won’t let me!” Macy spat. 

The conversation went on cyclically like this for another fifteen minutes before Macy stormed to her room. Macy remained in her room, silent, for the rest of the weekend, emerging only for food. Her parents were conflicted. They felt they needed to prevent her from rushing into the genetic test because of this study she found, but she had never acted like this before. Macy made it clear that she felt strongly about the study, and she made fair points. 

***

Several painfully long days later, Macy’s parents called her to the kitchen. She had beelined straight to her room when she got home from school. Since their heated discussion with Macy on Friday, Bruce and Sarah had talked about the genetic test and the research study many times. They had even called and spoken to Jim about the study.

“What?” Macy spat as she walked into the kitchen. She made a point to furrow her brow and cross her arms. 

“Well, we’ve been thinking . . .” Bruce began. He told Macy that they would agree to the genetic test and her participation in the study if the results of the test so allowed. Their agreement was under some conditions, however. Macy had to meet with Ms. Warner before getting the test done. Bruce found Ms. Warner’s advice invaluable, and he wanted to make sure that Macy knew precisely what she was getting herself into. Second, if Macy was indeed positive, her parents wanted her to attend a Huntington’s support group. They wanted to ensure that Macy did not feel alone and that more than just her parents supported her. Sarah had looked into these groups and found that there were groups for young individuals with the disease and others for parents and those with more advanced symptoms. 

Macy readily accepted these conditions, but she could feel herself getting nervous already, and was glad to have the opportunity to talk to Ms. Warner again. She called the office the following day and scheduled an appointment just under two weeks away. Macy wished there had been something sooner because she spent every day until the appointment second-guessing herself. Is it better to know and perhaps participate in the study, or should she just embrace blissful ignorance? “This ignorance is not all that blissful, though,” she thought. The day of the appointment finally came, and she spent the full sixty minutes discussing the implications of the test with the counselor. Ms. Warner carefully shared the pros and cons of testing with Macy, being sure not to endorse either choice more strongly than the other. 

Following her meeting with Ms. Warner, Macy was glad she had gone. Macy felt empowered with the counselor’s information and was more confident that she should move forward with the test. Ms. Warner told Macy that she would reach out to Macy’s neurologist and request that she order the test. 

“I’m sure. Thank you for all your help and all the advice you’ve given me along the way,” Macy responded gratefully. 

***

Macy got a call from the genetic counseling office two and a half weeks after her blood was drawn for the test. She felt her voice crack as she answered the call. Her results were in, and she needed to schedule an appointment to go over them with Ms. Warner. The office administrator said there had been a last-minute cancellation, and there was one available appointment time the next day. Macy booked it. 

The tension in the car with her parents on the way to the appointment was palpable. Macy had to remind herself to breathe, and her parents were so quiet that you could have heard a pin drop. Finally, they arrived at the office. They each sat in the same seat in the waiting room that they had chosen the first time they came to the office as a family—after Bruce had told Macy about his Huntington’s diagnosis. This time, however, they were even more nervous. The clock hanging on the wall ticked loudly. Macy thought to herself that it was tortuous to make someone wait this long to receive test results. Eventually, they were led back to the now-familiar office. They sat with baited breathe for Ms. Warner to arrive. The additional two-minute wait felt like a lifetime. The door finally opened. Ms. Warner came in and sat down across the coffee table from Macy and her parents. 

“Thank you for coming in today,” she began. “I know how anxious you all must be, so I will cut to the chase.” Macy inhaled and held her breath. Bruce’s mouth felt dry, but he swallowed anxiously. Sarah grabbed and squeezed Macy’s hand, holding back nervous tears. “Macy, I am happy to tell you that you do not carry the genetic mutation for Huntington’s Disease.”

Photo by Sangharsh Lohakare on Unsplash