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Victoria HuntleyFormer British carer who discovered she had Alzheimer's disease through genetic predictive testing
Country:
 Great Britain |
Victoria Huntley: A Former British Caregiver Facing the Reality of Alzheimer's Disease
Victoria Huntley, a former British caregiver, made the difficult decision to undergo genetic testing for Alzheimer's disease, after learning about the availability of genetic predictive testing. At the age of 48, Victoria found herself in a predicament. She could either choose to live her life in ignorance, but with the knowledge that dementia could strike at any moment, or she could undergo early detection testing for the inherited gene responsible for Alzheimer's disease. This decision weighed heavily on her, as three of her relatives had been affected by the disease. Her mother, grandfather, and great-grandmother all passed away from Alzheimer's.
The first signs of the disease appeared in Victoria's mother when she was 34 years old, and by the age of 40, she had lost her independence. Her mother spent the last 12 years of her life in a care home, unable to feed herself or communicate. Victoria's great-grandmother lost her battle with Alzheimer's at the age of 36, and her grandfather at the age of 42.
"I was 19 when my mother started experiencing memory lapses," said Victoria, who was a caregiver in London. "She would make a cup of tea and then forget about it. She would do strange things at work, including pulling people's hair and pinching them." "At first, we thought it was cancer, but then we realized it was dementia."
Shortly after her mother's death, Victoria and three other relatives were offered the opportunity to undergo genetic testing to identify the mutation responsible for the onset of Alzheimer's disease. "The decision was easy for me," Victoria said. "I wanted to do it because I was sure I had inherited this gene. I wanted to know what my future held."
Victoria is married to Martin, a 52-year-old bus driver, and they have two children aged 28 and 26. They also have six grandchildren. Victoria underwent six months of preparation for the testing. According to the Alzheimer's Society, half of those who prepare for genetic testing ultimately decide against it.
The test is offered to individuals with first-line relatives, such as parents, or second-line relatives (grandparents, aunts, or uncles) with a known genetic form of Alzheimer's disease. The test is also offered to individuals under the age of 65 with a family history of inherited Alzheimer's disease.
"Genetic predictive testing can help eliminate uncertainty and allow you to plan for the future," said Dr. Doug Brown, Head of Research and Development at the Alzheimer's Society. "You may become a suitable candidate for new drug trials or have the opportunity for pre-implantation diagnosis when an embryo is screened for defective genes before it is implanted into the womb."
"However, the process can also lead to extreme stress. If you find out you have a mutation, there is no going back. Currently, there are no treatments available to prevent or slow down the progression of any form of dementia, whether inherited or not."
"This is why the predictive testing is always carried out in conjunction with expert genetic counseling, both before and after the procedure. The results often have an impact on other family members, some of whom may not want to know the information they receive."
A month after having her blood drawn at the National Neurological and Neurosurgical Hospital in London, Victoria received the news she had been dreading: she had inherited the defective APP gene. The results indicated that Victoria had a high probability of developing dementia around the age of 40 or 50. The news left her feeling shattered.
"I always believed I had this gene," she said. "But when it was confirmed, it was a real blow for me."
Victoria's 43-year-old brother also tested positive for the defective gene, while one sister did not show any abnormalities, and another sister declined to be tested.
Dementia primarily affects individuals over the age of 65, but there are approximately 42,000 cases among younger individuals. Unhealthy lifestyles increase the risk, but the main victims of Alzheimer's disease are older people.
"Every tenth person with early-stage dementia has a significant family history of the disease," said Dr. Brown.
In cases of familial Alzheimer's disease, like Victoria's, one of three genes is responsible: APP, PSEN-1, or PSEN-2. The carrier of one of these mutations is at risk of developing the disease before the age of 60. The chances of passing on the harmful gene to offspring are 50%.
Any form of dementia treatment can only temporarily slow down symptoms, but cannot cure the disease. One notable medication is Aricept, which prevents the breakdown of a brain chemical called acetylcholine.
The first signs of dementia appeared in Victoria around the age of 40. "I made a mistake with medication for an elderly woman," she said. "Fortunately, nothing serious happened, but it still upset me. It became clear that it was time to quit my job as a caregiver."
"I can now stand and stare at a kettle for ten minutes without knowing what I am doing. I can put clothes on inside out. It is difficult for me to climb stairs because my spatial orientation is affected. We even put bright stickers on the steps to make it easier for me."
"I no longer go out alone because I won't be able to find my way back home. But I am not afraid of what lies ahead. By that time, I won't understand what's happening. It will be hard for Martin and my children, though."
Meanwhile, Victoria's family is determined to make the most of the time they have together. "We have barbecues in the garden all the time, even when it's raining," Victoria said. "We think, 'To hell with it! Why not!'"
"I am glad I went through the testing. But at the moment, I do not recommend it to my children because the information they receive will change everything."
