Kristen Powers had to watch her mother succumb to the insidious effects of Huntington’s disease, knowing there was an even chance she would suffer the same fate.
The 21-year-old from North Carolina was in Perth last week on behalf of Huntington’s WA to tell her story and raise awareness about the disease which devastates families.
She spoke to health care workers, teachers and high school students at the Harry Perkins Institute for Medical Research, the first stop on her Australian visit.
When her mother, Nicola, died four years ago aged 45, she was unable to speak, walk or look after herself.
“It started with cognitive problems,” Ms Powers said.
“She couldn’t remember where she put things, she couldn’t reason, she would get very mad and you wouldn’t understand why.
“As she went further into the disease she had the movement problems, she would trip a lot, she wouldn’t be able to control her arms or her torso.
“Towards the end, all those cognitive, psychological and movement disorders intensified.”
As a child of someone with Huntington’s, Ms Powers had a 50 per cent chance of inheriting the defective gene, but she had to wait until she was 18 to be tested.
A documentary called Twitch focuses on the period leading up the genetic testing and the day the results came back clear.
It looks at the science of the incurable disease, which affects about 12 people per 100,000, and its emotional impacts.
Twitching is often one of the first symptoms.
“The film was a good distraction and I was fairly calm during the testing process because I was dealing with cameras and different events,” Ms Powers said.
“But the actual day of the testing was by far one of the most nerve-racking moments of my life.
“I remember wishing I didn’t have to worry about the documentary because they kept talking about my microphone and what they wanted me to do and I was just extremely nervous.
“I thought I was going to throw up.”
Ms Powers is on a mission to start a conversation about Huntington’s and the support needed for families.
She has two younger brothers, aged 10 and 19, who are yet to be tested.
“I tested negative, so now it turns to my two younger siblings who are still at risk,” she said.
“That’s kind of the horror of Huntington’s disease.”
Visit www.twitchdocumentary.com .