Sarah Power, a 41-year-old woman from the UK, has lived with the knowledge of her eventual battle with Huntington’s Disease for nearly two decades. Diagnosed at the age of 23, she carries the gene mutation for this hereditary neurodegenerative disorder, which severely impacts motor function, cognition, and mental health.
In a poignant reflection on her diagnosis, Sarah recalls the harrowing moment when she and her mother waited for results in a hospital room. “It was a really harrowing moment,” she shares. “Nothing could prepare me for the news I was about to receive.” The diagnosis was not entirely unexpected; Sarah’s father and grandmother both suffered from the disease, casting a long shadow over her family.
Growing up, Sarah had learned about Huntington’s Disease at a young age. “I vividly remember sitting in our living room when I was five, being told by someone from the Huntington’s Disease Association that my grandma had this disease,” she explains. “They were explaining it was hereditary, which didn’t mean a huge amount to me at the time, but I did feel this darkness in the room.”
Sarah’s journey through her family’s history with Huntington’s was marked by profound loss. Her grandmother passed away due to complications from the disease when Sarah was just a teenager. Meanwhile, her father lived in denial about his own condition, refusing to acknowledge the possibility of carrying the gene mutation until his death in 2017.
Despite the emotional weight of her diagnosis, Sarah sought to seize control of her life. After receiving the news, she embarked on a journey of self-discovery and travel, backpacking across countries such as Brazil, New Zealand, and Thailand. “It was the best thing I could have done,” she recalls, emphasizing the importance of creating lasting memories despite her uncertain future.
The reality of Huntington’s Disease loomed large as Sarah navigated relationships, including her marriage. Together with her ex-husband, they opted for IVF to ensure their children could be free from the gene mutation. After two losses, Sarah successfully carried her first daughter to term. In a surprising twist, she later became pregnant naturally, resulting in her second daughter. “I still can’t get my head around it,” she says, expressing joy over her family while grappling with her health concerns.
As the years passed, Sarah remained acutely aware of her condition. “I am pre-symptomatic, but it feels like I’m a ticking time bomb,” she reflects. With the typical onset of symptoms occurring between the ages of 30 and 50, she often worries about the early signs of the disease, from changes in personality to simple clumsiness. “I wonder, is this the start for me?” she questions.
In September 2023, Sarah received an email from the Huntington’s Disease Association that offered a glimmer of hope. The announcement of a new treatment, which reportedly could slow the disease’s progression by up to 75%, was a significant development in the fight against Huntington’s. “I had to read the email several times – I couldn’t sleep that night,” Sarah shares, her voice filled with excitement. “It’s the breakthrough we’ve all been hoping and praying for.”
Cath Stanley BEM, Chief Executive of the Huntington’s Disease Association, highlighted the impact of this condition in the UK, where approximately 8,000 people are living with Huntington’s Disease and an additional 32,000 are at risk. She described the disease as one that gradually strips away control over movement, thinking, and behaviour, often striking during crucial life stages when careers and families are forming.
While the treatment is still in the trial phase and has yet to receive regulatory approval, Sarah remains hopeful. The potential to manage her condition could allow her to enjoy a future filled with family milestones that she had feared might be out of reach. “I’ve never let myself think about what it would be like to see my grandchildren,” she admits. Now, with this new hope on the horizon, Sarah Power is determined to make the most of every moment, living life to the fullest while embracing the uncertainty of the future.
