Although the debilitating symptoms of Huntington’s Disease only appear in middle age, the decision to get tested is life-changing for young people who may have inherited it
Izzy* always knew Huntington’s Disease was in her family.
Her grandfather died from it when she was a kid. Later, two other close relatives found they had it.
Doctors put her chances of inheriting the disease at 50/50 - but the only way she could know for sure was by getting a test.
From the age of 18, people who may have inherited the life-altering and debilitating neurological disease can opt to get tested and find out for sure whether they can expect cognitive, physical and psychiatric decline by middle age.
When Izzy went for her test in her late 20s, she felt it was inevitable she would have the disease.
“It was a 50/50 chance, but in my mind I was sure I had it,” she said.
So when the test came back positive, at first she wasn’t too thrown.
“When I found out, I told myself I was fine. I created my own protective bubble. I didn’t tell many people, as people knowing made it real”.
Izzy found out about her diagnosis just before the first lockdown.
Once she went into isolation, that was when the news really started affecting her - experiencing months of depression.
“I had shut off my emotions those first few months, then Covid hit, it was really hard,” she said. “I started to wonder what the point was, my future seemed pretty bleak.”
As a postgraduate student with two more years of study to go, time suddenly felt very short and a problem that once felt far-off had arrived in her life.
Izzy is like many Kiwis who come from a family with a history of Huntington’s Disease - faced with the dilemma of finding out for sure whether they have the disease.
But those behind some of the Huntington’s Disease support systems say there isn’t enough help offered to young people facing this monumental choice.
Dr Malvindar Singh-Bains of the University of Auckland Centre for Brain Research was brought to neurological research by her own family story.
“Both my maternal and paternal grandmothers had dementia,” she said. “So naturally, I had an interest.”
She began her work in the field with a devotion to the research, but soon found there was also work to be done on the human side of things.
“In 2013, I was presenting my findings at the National Huntington’s Disease Conference in Auckland and a woman asked me - what are you doing for our kids?” she said. “That made me think about the support young people affected by the disease may or may not have.”
Nowadays, Singh-Bains is the co-chairperson of the Huntington’s Disease Youth Organisation of New Zealand (HDYO-NZ), which seeks to provide support for young people who may not be symptomatic but are still affected by the impact of the disease.
“There’s a whole generation at risk without a solid support system,” she said. “There was nobody to look after people who weren’t symptomatic.”
She hopes the group will not only arm young people affected by the disease with the information they need to make informed choices about getting tested, but also listen to what they need and want.
“What people want is a drug treatment for this disease,” she said. At the moment, there is no cure, and finding better treatments is the goal for scientists around the world.
But Singh-Bains said compared to other progressive neurological diseases like Alzheimer’s and Parkinson’s, the cause of Huntington’s is relatively well-known - which may expedite the search for a cure.
“What we have unique to Huntington’s Disease is a molecular signature,” she said - a single defective gene on the fourth chromosome that causes a damaging buildup of proteins in the brain over time. However, despite the understanding scientists have around the disease, she is careful not to instil false hope in those dealing with it.
For now, she is trying to raise the profile of the disease and deal with some of the stigma surrounding it.
“For a long time, the perception was that it only affects you in your late 30s or early 40s,” she said. “But the implications of knowing you do or don’t have the disease can change your life.”
Singh-Bains said the most important thing is young people making the choice for themselves - as even a negative test result can lead to feelings of guilt, leaving them in a difficult place.
“I’ve never said to anybody you should or shouldn’t get the test,” she said. “I’ve only made sure they’re armed with the best information.”
Izzy said going to get tested was an intimidating prospect - not helped by a lack of support by the healthcare system.
“It’s pretty scary. When you go and get tested there’s not a whole lot of support,” she said. “Just a check-in here and there. It falls a bit flat, to be honest.” Those who receive a negative result are not entitled to any government-funded counselling after the fact.
Izzy said while there was some counselling before the decision is made, there needs to be more support after people find out the results.
“Even if it’s negative, you might have a huge sense of relief - but there’s also the guilt.”
Singh-Bains said testing is a sensitive and emotional process that HDYO-NZ tries to guide young people through.
“It’s a journey that can feel very lonely,” she said. “We’re trying to fill that space.”
Izzy said she is doing a lot better now. She has been working with a therapist who is versed in how to deal with a life-changing illness. She has received some support from HDYO-NZ, although she wishes more young people in her situation would reach out to it for help.
“It makes you think really hard about what you want and need in life,” she said. “I try to live more in the present these days, and that helps a lot.”
Ultimately, the experience changed her. “I feel like a different person now,” she said. “I really take the time to look after myself and I have better boundaries.”
She encourages other people in her position to seek help.
“The whole process is a massive ordeal but if you try and work through it on your own, it’ll be a lot harder,” she said.
“Before you get the test, try and think about all of the possibilities, how would it change your life, relationships or career if it were positive? If it were negative? Tell your friends and family what you need. Go to therapy if you can.”
But what she really wants to see is more support for young people going through the same process, and/or living with family members affected by Huntington’s disease.
“There should be an option for subsidised or free therapy from the moment you start to be impacted by your results,” she said.
Not having this option made her feel like what she was going through wasn’t severe enough to necessitate help, she said.
“It contributed to me feeling like I needed to harden up, shut off my emotions and isolate myself from friends and family,” she said. “Our mental health system and the mental health of New Zealand in general are in crisis, it’s time for things to change”.
*Name changed
