ICYMI: Swimmer’s 100km Swim Raised Huntington’s Disease Awareness

HTT gene mutations cause Huntington’s disease, a rare and inherited neurological condition. Those with a family history of Huntington’s disease may choose to undergo genetic testing to learn more, though this can be a difficult decision to make. 

Two years ago, Ellie Williams was faced with this decision. After undergoing testing, Ellie learned that she did have the mutation associated with Huntington’s disease. However, rather than let this get her down, Ellie chose to make a change. 

Radio New Zealand explains that Ellie began swimming to support advocacy organizations and raise awareness of Huntington’s disease. To do so, Ellie decided to swim 100km (approximately 62 miles) in the ocean over a 10-day period. During the ten days, Ellie swam for about 4 hours every day. 

She shared that this helped connect her with the community, share her own story, and address her own concerns. Rather than see this as a physical undertaking, Ellie saw it as a mental one. Through swimming, she found inspiration. And in doing so, Ellie also helped advance Huntington’s awareness in Auckland and beyond. 

About Huntington’s Disease (HD)

Normally, the HTT gene encodes for the production of huntingtin, a protein that scientists believe may promote neuronal health. However, HTT gene mutations in Huntington’s disease (or Huntington’s chorea) cause abnormally long and toxic chains of huntingtin to accumulate. As these chains break down, the toxic huntingtin binds to nerve cells, causing nerve cell degeneration and death. 

An estimated 3-7 out of every 100,000 people will develop Huntington’s disease. Typically, people receive diagnoses within their 30s or 40s, with a following lifespan of around 15-20 years. In a rare juvenile form, symptoms appear earlier than the 30s or 40s, with a lifespan of 10-15 years. Symptoms associated with Huntington’s disease include:

  • Chorea (an uncontrolled twitching or jerking movement) 
  • Irritability, impulsivity, anxiety, or depression
  • Changes in mood, behavior, or personality
  • Learning difficulties
  • Cognitive decline (poor decision-making, forgetfulness) 
  • Difficulty swallowing
  • Problems with walking, balance, or coordination
  • Head jerks or shoulder shrugs
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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