Findings from a recent study, ‘Health-related quality of life in Friedreich Ataxia: A study of impacts on patients and caregivers’, were presented at the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) European conference in Copenhagen, on November 12–15th 2023.
The study was a collaboration between Broadstreet Health Economics and Outcomes Research in Canada, the London Ataxia Centre, the Children’s Hospital of Philadelphia, Bambino Gesù Children’s Hospital in Italy and the pharmaceutical company PTC Therapeutics. Ataxia UK assisted in this research via our association with Euro-ataxia in finding participants to take part. Ataxia UK’s ethics review committee provided input to the study. We are grateful to all those who took part.
The first part of the study looked at perspectives of people living with FA on the impact of symptoms on their daily lives and mental and social wellbeing. Participants were recruited from the US, UK, and Germany, and took part in interviews and questionnaires. 29 people took part in total, including 16 people with FA and 13 caregivers.
55% of participants experienced symptom onset before the age of 16. The most reported challenge in daily life was lower limb co-ordination and balance, mentioned by all 29 participants. This was followed by fine motor impairments, raised by 28 participants and 22 experienced fatigue. 27 participants mentioned emotional challenges, stating that whilst they tried to maintain a positive outlook on their FA, they would still feel emotions such as frustration, anger, sadness, embarrassment or worry in everyday life. Some reasons behind these emotions included frustration with physical limitations, loss of independence linked with declining physical function, and worry or embarrassment about how they might be perceived by others.
Participants with FA reported ways they adapt to the challenges they face in day-to-day life, including keeping busy to avoid dwelling on their FA, engaging in mindfulness or meditation activities, and maintaining a healthy diet and exercise routine.
One person with FA from the US said this about how they cope with their FA:
“Just staying busy, whether it’s pedaling or staying busy with my daughter. I feel like when I’m busy that I’m happier because I don’t have a whole lot of time to sit around and pout.”
Another person with FA in the UK said this about how they cope with their FA:
“I’ve met a lot of people with FA and with a lot of the disabilities…I think it just makes you see the world in such a different way… everyone deals with something at some point, grief or whatever, and we all need to support one another. And I think FA has really helped me understand that”.
The researchers hope to conduct a larger study on the impacts of FA on daily life and wellbeing, including the perspectives of children with FA and their caregivers.
The second part of the study looked at the impact of caring for those with FA on the daily life and social and mental wellbeing of spousal and parental caregivers. This included a comparison of experiences between spousal and parental caregivers. 13 caregivers across the UK, US and Germany took part in interviews and questionnaires. The average age was 43, with 76.9% of participants being females and 23.1% males. Almost 70% of participants said they care for people with FA whose symptoms started before the age of 16.
All 13 caregivers said that they felt they needed to prioritise caregiving over socialising, working, and maintaining a healthy lifestyle. Caregiving was said to impact relationships with family and friends, due to the need to keep a consistent caregiving routine. Emotional challenges reported included worry and sadness about their loved one’s FA progressing, and that they as a caregiver could have done more. Some caregivers saw their role as ‘gruelling’, worried about burnout.
9 of the 13 caregivers described using coping strategies such as taking part in mindfulness activities and taking part in FA research opportunities.
Compared to parental caregivers, spousal caregivers cited unique challenges such as family planning and intimacy. Many spousal caregivers said that their caring role helped them to become closer to their partner. Whereas, for parental caregivers, the impact of caregiving for someone with FA on their family relationships was more mixed, with some saying caregiving brought them closer to their family member and others saying the caregiving threatened their family relationship.
One spousal caregiver in the US had this to say about the impact caring for someone with FA has had on their family relationships
“It’s created a really tight unit. Like my boys will do absolutely anything for their mother… and if we don’t feel like doing the mundane thing, like playing boardgames, but we know that’s what mama wants to do, because it’s spending time together, we just bite the bullet and do it, because it’s going to make her happy.”
One spousal caregiver in the UK reflected on how caring for someone with FA has impacted their daily life:
“I’ve changed my working environment so that I’m a lot more flexible… it works better for [husband’s name] because I was available for a lot more of his appointments… I learnt to work that into my daily life.”
The researchers intend to study the impacts of caregiving for a family member or spouse with FA in a larger sample.