Dementia risk impacts family planning decisions

Living in a family with a genetic risk of dementia has a significant impact on choices about having children and raising children, according to a new study led by UCL researchers.

The study, published in the Journal of Genetic Counseling, interviewed thirteen 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 characterized by behavioral and personality changes. Children of an affected parent have a 50% risk of inheriting the gene that causes the disease.

People in affected families fall into three groups: people who do not choose to find out whether they have inherited the gene (this group has a notional 50% risk of developing 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 explored participants’ experiences of family members with symptomatic familial frontotemporal dementia, their attitudes towards reproductive decision-making and, among parents, the influence of genetic risk status on parenting.

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

• Fear of repeating one’s own experiences with symptomatic family members and how to prevent this.
• Their own genetic risk and how it could affect their future children.
• The time of their lives when they hoped to have children.
• Challenges in Disclosing Genetic Risk for Children.

Interestingly, despite these challenges, when thinking about having and raising children, genetic risks were seen in the context of other factors such as the security of relationships, housing and income, the views of partners and the desire to maintain current lifestyles. retain.

A major concern that many people talked about was the practical and emotional challenges associated with caring for someone with familial frontotemporal dementia. They were also concerned that their own children or families would have to deal with this in the future.

Difficult parts included dealing with complex medical, healthcare and legal issues, dealing with difficult behaviour, losing the 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.

A male participant, aged 41, who had tested positive for the gene, said: “I wouldn’t pass it on alone, I would die early and they would have to see that, it would be terrible. So even if I didn’t pass it, it would be terrible.”

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

They often used the age at which their affected relative first showed symptoms as a ‘deadline’ for when they could still be good parents before potentially becoming ill themselves. For some, this made them less likely to want children.

In addition, 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 whether or not to reproduce.

Common concerns included whether the child could handle the difficult news, possible damage to the parent-child relationship, the child disagreeing with the parent’s decision to have children, and uncertainty about how to start the conversation.

Our study is the first to our knowledge to show how the risk of familial frontotemporal dementia, a devastating and fatal condition with enormous consequences for caregivers, influences childbearing decisions. We found that knowledge about genetic risks, personal values ​​and the emotional and practical challenges of care all play a major role. But also that these decisions took place within the context that we all face when making such decisions, such as the safety of relationships.”

Joshua Stott, senior study author and professor, University College London

Scott added: “This key role of genetic risk and the complexity and individuality of decision-making highlights the need for personalized advice and support from people who understand the condition and genetics to help people make these incredibly difficult 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, UCL’s Rare Dementia Support Center provides holistic and practical support for future planning through the Virtual Support Clinic and peer support for gene carriers, as part of the monthly Zoom group for gene carriers for familial frontotemporal dementia.

The researchers also believe that it is important that affected people are made aware of the resources and potential opportunities to be involved in research, in addition to providing them with information on legal and financial planning to manage the need and prepare for future needs.

Professor Stott added: “These elements are intended to help individuals at risk navigate the complex decisions surrounding reproduction and genetic risk in a holistic and informed way.”

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, discovered her family had familial frontotemporal dementia after 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 discovered 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 we made with other family or friends. I think it’s a very personal decision. and individual decision (as a couple) and knew that I wanted it not to be influenced by the opinions of others. I was aware that some people around me felt differently, so while 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 before we knew I had the gene, and as such became pregnant pending the outcome of my test. We were aware of, and discussed the option of pre-implantation testing, but felt this was not an option we wanted to pursue.
Some of our thought processes were about the range of variables in life, and that there are many other risks that we and any children may face, and that the risk was not final, but 50/50.

“On reflection, I think the family age at which my father and uncle started also influenced our decision, as they were both around 60 when they were diagnosed. I think if our family had been at a younger age, the conversation would have been different. Because the impact on parenting and finances would have been greater, my family members, although severely affected by their symptoms of fFTD, did not exhibit overt challenging behavior such as aggression, which I think may also affect our decision-making. influenced.

“We were also certainly aware that we wanted to take into account planning for the future and ensure some financial stability for any future healthcare needs.

“On the whole, we decided that we wanted to continue with life ‘as normal’, without burying our heads in the sand, but with a full exploration of our concerns and attitudes, and fortunately we were largely aligned in our positions.”