‘I just have this really peaceful life’: What it’s like finding out you have inherited Alzheimer’s disease. (2024)

Published

17 May 2024

Like the Jennings family in a recent BBC documentary, Sophie Leggett found out she had familial Alzheimer's disease. Since getting her diagnosis, she has prioritised what makes her happiest and has taken part in trials to help dementia research.

Sophie Legget lives life to the fullest. She and her husband live in a converted American school bus, and she walks along the beach every day without fail.

“I walk my dog and I just have this really peaceful life where I don't allow myself to get involved in stuff that isn't good for me,” she says.

The 41-year-old from Suffolk has genetic Alzheimer’s disease, known as familial Alzheimer's disease (FAD) or young onset inherited Alzheimer's, which means she will develop symptoms earlier on than people with Alzheimer’s often do. This is because of a gene she inherited from family. With FAD, symptoms can start by 40 or even earlier. In every 100 people with the condition, less than 1% will have , externalfamilial Alzheimer's disease.

Alzheimer's is a type of dementia, external that affects memory, thinking and behaviour. Symptoms often develop over several years and eventually grow severe to the point that everyday tasks are impacted.

Sophie’s mother and aunt had Alzheimer’s disease but neither of them knew this was due to a gene mutation.

After Sophie’s mother passed away in 2011, UCL’s Dementia Research Centre approached the family to share more about genetic Alzheimer’s disease. It was only then that she learnt she had a 50% chance of possessing the gene mutation.

The Jennings v Alzheimer’s is a new BBC documentary about the first family to be diagnosed with hereditary Alzheimer’s disease, the Jennings, who were key to the research scientists now have on the disease.

In the 1980s, Alzheimer’s was not thought to have been passed down through families. But Carol Jennings reached out to UCL, after several older family members were diagnosed with Alzheimer’s disease in their 50s. Scientists who were studying the disease then began studying the Jennings’ genetics and identified the gene mutation that the affected family members shared.

Because of their contribution, people like Sophie are able to test for the gene and get a diagnosis.

In 2011, scientists told Sophie she could do a test to know whether she had the gene and whether she would develop inherited Alzheimer’s disease. Only in 2018 did she decide to take the test, which involved lab analysis of her blood.

“I was just ready to get it, so that I could plan for my life,” she says. “I'd put a lot in place before I got my results, like power of attorney and everything like that.”

She told her husband Chris she didn’t want him coming into the results room with her. “Because I wanted a moment to feel my own feelings rather than worrying about his,” she says.

But things didn’t go to plan. “I was going to get the results,” she explains. “I wanted him to wait outside, but as we were there and going in I grabbed his hand and said, ‘come with me.’”

She took some time to “lick her wounds” after receiving confirmation she had the gene - but then she chose to move forward. “I just decided to carry on with life,” she says.

She thought about the fact her dad died from an unexpected heart attack, and reminded herself “anything could happen to anybody” and most don’t have the chance to plan for their futures.

“So we're seeing it as just enabling us to do things now, rather than thinking we'll do it when we're retired, because I probably won't be functioning then.”

Alzheimer’s disease is caused by proteins changing in the brain, explains Dr Catherine Mummery, head of clinical trials at UCL's Dementia Research Centre.

“We all have these proteins - the amyloid protein and tau protein are the two main proteins seen in Alzheimer's disease, because they're part of the building blocks of the brain,” she says.

In genetic Alzheimer’s disease, these proteins start to fold up in the wrong way, and they become “sticky” and clump together, which can cause those cells to die.

Genetic Alzheimer’s disease is when a person has a mutation to the amyloid precursor protein (APP) gene, resulting in an overproduction of the amyloid protein being built up in the brain.

Sophie is due to start a new drug trial at the end of this year, which Catherine is involved in.

Sophie is resolute on contributing to research in any way she can.

"I have a daughter who may have inherited the gene and I want to continue to contribute in a positive way,” she says.

Last year, it was announced there was a new drug, donanemab, which was being hailed as a turning point in the fight against Alzheimer's.

“It's fair to say that we are at the beginning of a treatment era in Alzheimer's disease,” Catherine says.

It’s “a time for optimism and for hard work, so that we can really push forward with our advances”.

You can watch Jennings v Alzheimer’s on BBC iPlayer.