Huntington disease may be rare but if you have a parent with Huntington’s you have a 50% chance of having it too.
Lauren McDermott was 16 when her parents told her that her father was sick. She knew something wasn’t right. He’d started to stumble and fall over, he had trouble speaking and was forgetting things. Her school friends had noticed too.
“My parents said it was a rare condition called Huntington’s disease. I pushed the news to the back of my mind. I had looming exams to prep for.
“The next day, I sat my final year high school biology test. The first question on the page was a scenario question that read along the lines of ‘If one parent had Huntington’s disease and the other didn’t, what is the chance that their child would inherit the disease?”
Sadly, the answer is a one in two chance.
Huntington’s disease is rare but the likelihood of it being passed on is high.
It is an inherited disease that causes the progressive breakdown of nerve cells in the brain. It impacts a person’s functional abilities and usually affects their movement and their ability to think. Typically, patients also suffer psychiatric disorders.
People with Huntington’s disease usually die within 15 to 20 years of their diagnosis.
No cure exists.
All Lauren had to hang on to, was the hope that she hadn’t inherited the disease but it would be several years before she had the courage to find out.
Head of the Preventive Genetics Group at the Harry Perkins Institute of Medical Research, Professor Nigel Laing AO said “Lauren’s fear of finding out if she carried the gene for Huntington’s is not uncommon.”
It was in 1993 that a group of geneticists and researchers identified the gene for Huntington’s Disease. That discovery meant family members, if they wanted to, could find out if they would get the disease and, if so, make plans, but sadly no cure has yet been found
“Each year Rare Disease Day is held to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers.
“In Australia, a disease is considered rare if it affects fewer than 5 in 10,000 people. There are more than 7,000 rare diseases that are life threatening or chronically debilitating,” Professor Laing said.
Professor Laing is a world-renowned geneticist who has advocated for families like Lauren’s for more than 3 decades. His team has discovered more than 30 disease genes, he has a disease gene named after him, and he co-leads a federal government nationwide research project, Mackenzie’s Mission, investigating how to make carrier screening available to all Australian couples who want to use it.
“Research into genetic disease genes involves teams around the world sharing their observations about the genetic patterns of one family and comparing them against the genetic material of other families, often in another country.
“That’s the nature of rare disease research. We need enough people with the same symptoms and the same minute identical genetic signals to identify a disease gene. It’s definitely ‘needle in a haystack’ investigating”, he said.
For Lauren the availability of a genetic test to confirm whether she would get Huntington’s meant she could find out if she wanted to before planning a family.
“When you have a genetic disease in your family, it can be too painful to plan for the future,” she said.
Lauren had started assuming she’d never have children. She’d begun to imagine she’d get Huntington’s symptoms in her 30’s because her dad was diagnosed young and had died aged 53.
However, a couple of months before her 30th birthday last year and with the decision about whether to have children pressing, she began the process of undergoing predictive genetic testing to better understand her risk.
“I was already giving up so much of my future ‘just in case’ so what difference would it make?
After a lifetime of wishing for only one thing, she received her results and realised she had nothing left to wish for. She was negative for Huntington’s Disease.
Lauren gave birth to baby Logan in January 2022.
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Learn more about Lauren’s story and how you can make a difference this Rare Disease Day here.
