I watched both parents die with dementia – now a £99 DNA test reveals I might too
ANXIOUSLY opening the results of her DNA test, Shelle Luscombe got the news she had been dreading.
It revealed she carries two copies of a gene which puts her at high risk of dementia.
“I knew there was a chance as dementia seems to run in my family,” says Shelle, 52, who lost both parents to the illness.
“But there was still a bit of a gasp when I saw it there in front of me in black and white.
“I’ve seen first-hand what this horrible condition can do.
“I don’t have children, I don’t have a partner. Of course I worry about who will look after me, who is going to fight my corner when I need them to.”
While lots of evidence points to the fact that lifestyle choices such as a healthy diet, exercise and stopping smoking can reduce the risk of dementia, a new Spanish study published earlier this month revealed our genes play a key role too.
It found that almost everyone who carries two copies of the APOE4 gene showed signs of Alzheimer’s by the age of 55.
Researchers in Barcelona analysed more than 3,000 brain samples and found that double-carriers who developed symptoms of Alzheimer’s did so at around 65 — seven to ten years earlier than others.
Employee engagement manager Shelle, from West Sussex, says both of her grandmothers suffered from dementia. Her parents Ian and Sue started showing signs in their 60s. Her father also had Parkinson’s.
“It was in 2012 that I noticed things weren’t right at home,” Shelle says. “At first, medics just said Mum was exhausted. She wasn’t sleeping well. They called it ‘carer’s strain’.
“We muddled along for a while. Dad’s health deteriorated and Mum continued to look after him but she wasn’t herself.
“We’d always been a close family but she was trying to keep me at arm’s length. She was acting out of character.
“That’s when I began to worry about dementia.”
Shelle raised concerns with her parents’ GP but it was not until January 2017, when her father was admitted to hospital, that she realised how much they were struggling.
Shelle intervened and Ian was moved to a nursing home.
Sue was then diagnosed with Alzheimer’s in 2017, just months before Shelle lost her father, aged 75, that December.
“Dad’s death still haunts me. I often have flashbacks,” Shelle recalls.
“And all the time I was looking after Mum. She was in denial about her diagnosis, which made it difficult to support her. She was suspicious of people.”
Sue’s health deteriorated to the point where she had a live-in carer but in 2019 she lost the ability to walk.
‘I have flashbacks’
As well as Alzheimer’s, she was diagnosed with vascular dementia.
“Mum ended up in a nursing home,” Shelle says.
“By this stage she was unable to walk, she was incontinent, she’d lost all of her faculties.
“But I also cherished those days with her.
“She’d forget she was ill and was more content than she’d been for years. In spite of her illness, Mum always knew me.
“I think in her mind I was different ages but she knew who I was, and that I was important in her life.”
Sue died in February 2022, aged 76, after catching Covid — her body so frail that she was not able to fight the infection.
It was shortly afterwards that a friend told Shelle he had done a DNA test and carried one copy of the APCO4 gene.
Around 25 per cent of people carry one copy, which roughly trebles the risk compared to having none.
“I looked up the company, 23andme, and thought, ‘I’m going to find out’,” Shelle says.
‘I wasn’t shocked’
“It’s not a decision you take lightly and you really need to think it through.
“It was a simple saliva test, which you put in a test tube and send back, and around a month later I got the results.
“I wasn’t shocked. I feel quite empowered to have the knowledge and I’ve been trying to learn more about what I can do to ward it off.
“Just because I have the genetic predisposition, it doesn’t mean I’m definitely going to get it. There are no guarantees.
“Scientists are making breakthroughs into new treatments every day.”
Shelle now makes life choices to keep healthy, spending time with friends, eating well and enjoying lots of walks by the sea.
“Finding out about this gene is key for me,” she says.
“You’ve got to know you’re at risk if you want to do something about it. That said, it’s important to balance this knowledge with a healthy everyday life. Be informed but don’t let it rule your life. You still have to live.”
GENES AREN’T FULL PICTURE
SIOBHAN FAIRGREAVES is research information manager at the Alzheimer’s Society.
She says: “We have known for some time that having one copy of APOE4 increases your risk of Alzheimer’s disease.
“Having two copies substantially increases your risk and this latest study carried out in Barcelona confirms this. Around one in 50 in the UK carry two copies.
“Currently there is no treatment for those at risk. Medications that might slow down Alzheimer’s progression are under review but at the moment they are not approved for use in the UK.
“We know that they are more effective if given earlier so any research that helps us identify people at risk of the disease is really useful.
“It’s important to remember that having these genes or a family history of dementia does not necessarily mean that you will get it.
“Every person’s risk of developing dementia is affected by a multitude of factors including age, lifestyle and environment.
“Genetics are just one piece of the puzzle.
“If you’re worried about Alzheimer’s in your family, your first port of call should be your GP.
“Even if a test shows you have the gene, you may never develop the symptoms. There is no way to tell definitively who will develop dementia.
“All of us can reduce our risk by not smoking, not drinking excessive alcohol and keeping physically active. You should also keep to a healthy weight and keep cholesterol and blood pressure under control.”