Previous experience affects family planning decisions of people with hereditary dementia

(Press-News.org) Living in a family where there is genetic risk for dementia significantly affects choices about having children and how to parent, finds a new study led by UCL researchers.

The research, published in the Journal of Genetic Counselling, interviewed 13 people – both parents and non-parents – who are at risk of developing familial frontotemporal dementia (fFTD).

This form of dementia often begins in mid-life and is characterised by behavioural and personality changes. Children of an affected parent are at 50% risk of inheriting the gene that causes the disease.

People in affected families fall into three groups: people who don’t choose to find out whether they have inherited the gene (this group are at a notional 50% risk of the condition); people who choose to find out and are positive (will develop the condition); people who choose to find out and are negative (will not develop it but live in a family where many others might).

The team investigated participants’ experiences of relatives with symptomatic familial frontotemporal dementia, their attitudes towards reproductive decision-making and, among parents, influences of genetic risk status on parenting.

Through their interviews, the researchers highlighted several key concerns, including:

Fear of repetition of own experience with symptomatic relatives and how to mitigate this from recurring. Their own genetic risk and how this could affect their future children. The time of life they hoped to have children. Challenges of disclosing genetic risk to children. Interestingly, despite these challenges, when thinking about having and parenting children, genetic risk was viewed in the context of other factors such as security of relationship, housing and income, partner’s views, and a desire to maintain current lifestyle.

A key concern that many people talked about were the practical and emotional challenges of caring for someone with familial frontotemporal dementia. They were also worried about their own children or families having to deal with this in the future.

Difficult parts included handling complicated medical, care, and legal issues, managing difficult behaviours, losing their relationship with the affected person, and giving up their own plans and priorities to provide care. This often led to feelings of frustration, resentment, and guilt.

One male participant, aged 41 who had tested positive for the gene, said: “Not only would I be passing it on, I’d be dying early and they’d have to see that, it’d be terrible. So even if I didn’t pass it on, it’d be awful.”

Many people, whether they had children or not, felt that the risk of developing familial frontotemporal dementia made them feel pressured to make decisions about having children quickly.

They often used the age when their affected relative first showed symptoms as a 'deadline' for when they could still be good parents before possibly getting sick themselves. For some, this made them less likely to want to have children.

Additionally, most people found it very difficult to talk to their children about the risk of passing on familial frontotemporal dementia. For some without children, the thought of this difficulty influenced their decision on whether to reproduce.

Common worries included whether the child could handle the tough news, potential harm to the parent-child relationship, the child disagreeing with the parent's decision to have kids, and uncertainty about how to start the conversation.

Senior author, Professor Joshua Stott (UCL Psychology & Language Sciences) said: "Our study is the first to our knowledge to show how the risk of familial frontotemporal dementia, which is a devastating and fatal condition with huge impact on caregivers, affects decisions about having children. We found that knowing about the genetic risk, personal values, and the emotional and practical challenges of caregiving all play a big role. But also that these decisions took place within the contexts we all face in making such decisions such as security of relationship.

“This key role of genetic risk and the complexity and individuality of decision-making highlights the need for personalised counselling and support from people who understand the condition and genetics to help people make these incredibly tough decisions.”

As a result of their findings, the researchers are calling for better information and psychological support that helps people understand and weigh their reproductive options in a supportive, non-judgmental environment.

For example, the Rare Dementia Support Centre at UCL provides holistic and practical support for future planning through the Virtual Support Clinic and peer support for gene carriers, as part of the familial frontotemporal dementia gene carrier monthly Zoom group.

The researchers also believe it’s important that people affected are signposted to resources and potential opportunities to be involved with research, alongside being provided with information on legal and financial planning to manage distress and prepare for future needs.

Professor Stott added: “These elements aim to help at-risk individuals navigate the complex decisions related to reproduction and genetic risk in a holistic and informed manner.”

The research is part of the RD Talk study, funded by the National Institute for Health and Care Research.

Amanda’s story

Amanda, 38, from Kent, found out that her family had familial frontotemporal dementia following her father’s diagnosis of the condition in 2012 and her uncle’s in 2005.

In 2015, Amanda also discovered that she had the gene.

Amanda has two children - her eldest was born in 2007 and her second child was born in 2015. She was pregnant when she found out her genetic status.  

Amanda said: “My husband and I discussed our options for having children once we knew I was ‘at risk’ and it was very much a joint decision, but not one that we made with wider family or friends. I feel it’s a very personal and individual decision (as a couple) and knew that I wanted it not to be influenced by others’ opinions.  I was aware that some people close to me felt differently, so although stigma didn’t influence my choice, I was aware of it.

“Together we made the decision that we would continue on our planned path of having children regardless of genetic status, which we decided prior to knowing I had the gene, and as such became pregnant while awaiting the outcome of my test.  We were aware of, and discussed the option of pre-implantation testing, but felt that this was not an option we wanted to pursue.
Some of our thought processes were around the range of variables in life, and that there are many other risks that we and any children might face, and that the risk was not a definite, but 50/50.

“On reflection I think the familial age of onset of my father and uncle also impacted our decision, as they were both around 60 when they were diagnosed. I think if our family had a younger age of onset then the conversation would have been different, as the impact on parenting and finances would have been greater. Similarly, although my family members were severely impacted by their symptoms of fFTD, they did not display overtly challenging behaviours such as aggression, which I think perhaps also impacted our decision making.   

“We were also definitely aware that we wanted to be mindful of planning for the future, and of ensuring some financial stability for any future care needs.

“Overall we decided that we wanted to go ahead with life ‘as normal’, not burying our heads in the sand but with a full exploration of our concerns and attitudes, and luckily we were very much aligned in our viewpoints.”

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