Victoria Huntley, 36, is facing an unbelievable dilemma. Be tested to see if she’d inherited a gene which meant she would develop early-onset Alzheimer’s disease — or live her life in ignorance, knowing it could strike at any time.
The disease had already deeply affected the lives of three of her relatives, with her mother, grandfather and great-grandmother all dying young from Alzheimer's.
Her mother first showed signs of the disease at the age of 34 and by her early 40s was unable to look after herself. She spent the last 12 years of her life in a nursing home, and for eight years — until her death at the age of 56 — she was tube fed and unable to speak.
Victoria’s great-grandmother had died at 36, and her grandfather at 42.
Victoria tells DailyMail that she, and her three siblings were offered the option of being tested to see if they had inherited the genetic mutation which causes early-onset Alzheimer's.
She told the publication, ‘For me, it was an easy decision,’ says Victoria. ‘I wanted to have the test because I was sure I would have the faulty gene. I wanted to be aware of what was going to happen to me.’
According to the Alzheimer's Society, as many as half of those considering genetic testing decide not to go through with it in the end.
Testing may be offered to those with a first degree relative (such as a parent) or second degree relative (grandparents, aunt or uncle) with a known genetic form of Alzheimer’s, or if a pattern of dementia in family members under 65 suggests that it’s an inherited disease.
‘Having a predictive genetic test may remove uncertainty and allow you to plan for the future,’ says Dr Doug Brown, the Alzheimer’s Society’s director of research and development.
‘It may make you eligible for a trial of a new drug or open up opportunities such as pre-implantation diagnosis — where embryos are screened for faulty genes before they are put back in the womb.
‘However, it can also be a very stressful process. If you are found to have the mutation, this knowledge cannot then be unlearned. There are currently no treatments that can prevent or slow the progression of any form of dementia — inherited or otherwise.
‘This is why predictive testing is only done with expert genetic counselling — both before and after testing. The result will usually affect other family members, too, some of whom might not want to know the outcome.
‘Not knowing leaves room for hope, whereas the knowledge of a positive test result cannot be reversed,’ adds Dr Brown.
A month after having her blood test at the National Hospital for Neurology and Neurosurgery in London, Victoria received the news she feared: she had inherited the faulty gene called APP.
It meant she was almost certain to develop Alzheimer’s at some point in her 30s, 40s or 50s. After learning the news, she admits she ‘just fell apart’.
‘I was always convinced I would have the gene — but to have it confirmed was a real blow,' she said.
Victoria is already starting to display signs of Alzheimer's and is taking early precautions to hopefully slow down it's onset. Victoria’s 43-year-old brother also tested positive for the gene, one of her sisters doesn’t have it, and her other sister has decided not to be tested.
This article originally appeared on New Idea.