Community Voices
Brianna
Brianna (24 years old) Caregiver to mom (Mandy), genetically positive for Huntington’s disease.
Brianna’s earliest memories with her grandmother take place in a nursing home. This is where her grandmother, who was incapacitated and bedbound, lived and where her grandfather spent his time tending to his beloved wife. Brianna visited often, bringing smiles and drawings, which she would tape to her grandmother’s bed. “I thought her inability to walk or even communicate was part of aging,” Brianna remembers. “No one told me that she had Huntington’s disease.”
Huntington’s disease (HD) is an inherited and progressive condition that worsens as nerve cells in the brain break down over time. While the gene is present at birth, symptoms often appear between the ages of 30 and 50. HD affects movement, thoughts, and feelings. It has no cure and can lead to serious – and sometimes fatal – complications. As an autosomal dominant condition, only one copy of the HD genetic mutation is needed for a parent to pass it on to their children. In other words, a child has a 50% chance of inheriting HD from a parent.
When Brianna was 14 years old, she was happy to have her mom Mandy home for the summer before starting high school. She didn’t realize that her mother’s career was cut short due to progression of HD. Mandy had been tested for the HD gene before Brianna was born and knew what symptoms to look out for since she had observed her own mother’s decline. She was experiencing cognitive processing and memory issues, though Brianna hadn’t noticed. In a somber moment, her parents said that they needed to talk with her.
“By my dad’s tone, I thought someone died,” she recalls. “My dad finally said, ‘Your mom has Huntington’s disease… and don’t look it up online since it can be overwhelming.’”
“When I learned there was a genetic component, I wanted to be tested immediately. I had to wait until I turned 18 due to ‘ethical regulations,’ and it was awful. It was all I could think about for years.”
In a reversal of caregiving roles, Brianna learned how to take care of her mother. There were painful moments: classmates made fun of her mother for using a walker and adults excluded the family from conversations and events. “People could be so cruel, so I did my best to protect her,” Brianna says.
Brianna insisted on genetic testing when she turned 18, despite numerous healthcare providers who suggested she wait. Her parents and two close friends accompanied her to the visit to receive the test results.
“When the nurse called my name, I already knew by her tone and the way she looked at me what the answer was.”
Brianna was confirmed to have the genetic mutation that causes HD.
“I lived in the unknown for so long; would my life be Plan A or Plan B? It was empowering to finally know my fate.” Her parents and friends, however, were devastated on her behalf. “Though my parents were crying, I wasn’t sad,” remembers Brianna. “I was ready to move forward.”
Perhaps it is this mental preparation that has allowed Brianna to be intentional about her life. Brianna is currently pursuing a Master’s degree in biological research. She chases everything that sparks an interest: skydiving, training with a circus, and even flying airplanes. “I want to explore what makes life worth living,” she says.
When reflecting upon a recent visit with her mom, Brianna explained, “She is still my mom, but it just takes her a little longer to do things.” Her mom is now 58 years old and in the mid-stages of HD. She lives in an assisted living facility, relies on a walker, and continues to experience cognitive decline.
Brianna is sharing her family’s HD story because she wants greater understanding of HD and more research into treatment options.
“There is a stigma with HD, people don’t understand how HD makes someone walk, talk, or act differently,” says Brianna. “People with HD should be treated with kindness, and I want to be a part of making that happen.”
Sarina
Sarina (23) and her mom Joanne, who lived with Huntington’s disease, U.S.A.
When Sarina was growing up, her mother Joanne had a sign hanging in their home with the “Serenity Prayer.” The sign said, Grant me the serenity to accept the things I cannot change, the courage to change the things I can, and the wisdom to know the difference. “I like to think my parents named me after sign,” Sarina said.
Sarina’s mom, Joanne, lives with Huntington’s disease, a genetic and progressive condition that gets worse over time. Common symptoms affect movement, thoughts, and feelings, with symptoms usually starting between the ages of 30 and 50. There is no cure for HD, and it is fatal. Growing up, Sarina does not recall a time without HD as part of her life. Her grandmother had passed away from HD before Sarina was born, and an aunt died of the disease as well. For Joanne, symptoms began around 40 years old.
“Although HD wasn’t kept a secret in my family, we also didn’t explicitly talk about it. I couldn’t tell you when I first learned of my mom’s diagnosis or when I learned I had a 50% chance of also having the same disease, but I wrote about being at risk at the age of 11 in my journal. I picked up bits and pieces of what HD was, but I was missing too many pieces of the puzzle to gain a clear picture of what it meant, and I was too scared to ask questions. I sensed that HD was something serious based on the mysterious and daunting aura that surrounded it, but I didn’t realize how much it would shape my life, ultimately in more positive ways than I had expected despite all of the challenges it has brought.”
Before symptoms started, and even during some of the early years after, Joanne was the adventurer in the family. She was active, planned family vacations, and walked her dog frequently. She always had a sweet tooth – with favorites being chocolate and donuts. Sarina has fond memories of her mom being a chaperone for school trips and getting involved in school activities in elementary school. Sarina said, “My mom was also very silly, and some of her jokes went over my head when I was little, but she always made us laugh with her antics.” A registered nurse, she was also the caregiver for others and for her family.
“For years I kept my mom’s experience with HD – and my own – a secret. But I don’t want to keep my mom a secret anymore. The benefits of raising awareness and being part of the HD patient advocacy community vastly outweigh what keeping it all a secret did to me.”
As a child, she remembers her mom having balance issues as a first sign of HD symptoms. She progressed quickly, becoming increasingly moody and agitated. For a few years, Sarina and her sister lived with relatives because of her mom’s increasing mood swings and agitation. “Caregiving fell a lot on my father,” Sarina said. “He and my mom were insistent that I have as normal as a childhood as I could. But it was hard.” When Sarina was home with her mom, she took over aspects of caregiving, including cooking and house cleaning, and helping her mother dress, brush her hair and teeth, etc. Sarina felt isolated growing up, “HD is so rare and misunderstood. I didn’t feel comfortable talking about it with my friends, and I worried what they’d think of my mother if they saw her lose her balance or had trouble speaking. I hid my reality from others and kept it all inside. I felt quite isolated.”
“A turning point for me was attending the HDYO camp. It felt rewarding to be around people who understood, to realize I am not alone.”
While in high school, Sarina’s sister encouraged her to attend a camp hosted by the Huntington’s Disease Youth Organization (HDYO). “To be honest I was nervous to go,” Sarina recalled. “When I got to camp it was overwhelming, almost too much. But ultimately being at camp made me realize I was not alone, and that there were people out there who understood what my family and I were going through.” Since camp, Sarina has become an active advocate in the HD community, using her voice and sharing her family’s experience to raise awareness of HD.
“There is a lot of stigma associated with HD because it is rare disease and not understood by many. I want people to know they’re not alone, that there is a community of families and others in the rare disease community who know what it is like and who want to help others feel supported.”
“I have two things I really want people to understand about HD,” Sarina explained. “First, it’s a family disease. It affects everyone as caregivers, as genetic carriers who must think about the future and of course for the one living with HD. Second, there is an urgent need for treatments, to help people with symptoms of HD today – and for generations to come who carry this gene and are destined to have a similar journey. We need to work to change this HD path today and for future generations.”“I have two things I really want people to understand about HD,” Sarina explained. “First, it’s a family disease. It affects everyone as caregivers, as genetic carriers who must think about the future and of course for the one living with HD. Second, there is an urgent need for treatments, to help people with symptoms of HD today – and for generations to come who carry this gene and are destined to have a similar journey. We need to work to change this HD path today and for future generations.”
“HD is a family disease. In addition to those diagnosed, you have generations to come worrying about the future and about their gene status. There is an urgency for all of us to have treatment options for HD.”
In the summer before Sarina began high school, her family moved Joanne into an assisted living facility. “Her personality had changed dramatically, and I felt like I no longer knew who she was, especially after they began giving her new medications, which helped her feel calmer but also left in her in a dazed trance sometimes,” said Sarina. “She would repeat the same phrases, and she quickly began losing her ability to talk, her last words being my name and my dog’s name.” After about a year, her mom needed more care than the assisted living facility could provide, and she moved into a nursing home, where she has resided for the past eight years.
At age 62, Joanne is in the advanced stages of HD, unable to feed herself, walk or talk. “When I visit, I am not sure if she recognizes me. But she always smiles when I walk in the room, so I like to think she does.” Her family brings her beloved dog to visit as well.
Sarina’s sister underwent genetic testing, and discovered she was positive for the mutation, meaning she would develop symptoms of the disease at some point in the future. “I realized that HD disease would be a part of my life forever, no matter whether I tested positive or not.”
“I decided that I wanted to study biology in college, hoping that science could provide me with some answers about HD and what had happened to my mom. I want to provide a different future for the other people who I love, including my sister, nephew, and others I had met in the community.”
A recent college graduate, Sarina is now working as a research technician and is entering graduate school with an eye toward a Ph.D. in genetics and epigenetics. She is certain her journey with HD has shaped her career path. “I have always been interested in biology. And now as an adult, I have learned much more about HD – clinical trials and research, I feel like there is something I can do to help. I really enjoy both research and advocacy – building the bridge between the two and providing perspective and insight to both.”
In addition to raising her voice for awareness of HD, Sarina also is using her voice as a champion of her mom and remembering her for more than HD. Sarina likes to look back at photos of her mom and loves hearing her family talk about what her mom was like before symptoms of HD became worse. She said, “While sometimes it’s hard to remember the good times, I do remember when I was sick it was my mom with a warm towel and who did nice things to make me feel better. I’d like others to remember her this way too.”
“To Prilenia, I am so incredibly grateful for your research into HD. Please keep pushing. Not knowing what’s in the future, I am hopeful what you’re doing today will help my family and many others.”