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The importance of psychological support for parents of children diagnosed with a rare condition

Dr Natali Bozhilova provides this update on a recent study on the importance of psychological support for parents and caregivers of children with a rare condition at diagnosis.

Introduction: A rare disease is a disease or condition that occurs in less than 1 in 2000 people. Across the European Union, 29 million people have at least one of the known 6000-8000 rare diseases. As these conditions are rare, research into the causes and/or therapies for them is limited. General practitioners (GPs) tend to be unfamiliar with them, leading to a delay of several years between the initial parental concerns and diagnosis. During this long wait, families tend to receive multiple wrong diagnoses, which do not help and make families feel helpless. Following a correct diagnosis, parents often experience mixed emotions and worsening of their mental health. However, there are no guidelines on the type and extent of psychological support families need around the time of diagnosis.

Method: This study reviewed and summarised the results from 37 studies focusing on the potential detriments and benefits clinical actions and psychological support have around the time of diagnosis.

Results: Despite the well-documented need of psychological support, these results confirmed that parents and caregivers rarely receive psychological support around the time of diagnosis. Instead, families often experience: 1) excessive waiting for diagnosis, 2) multiple wrong diagnoses, 3) inconsiderate delivery of diagnosis 4) no provision of essential information and specialist knowledge, 5) no assessment and consideration of their psychological and practical needs and 6) confusing and complicated health care systems.

The results also show that psychological support around the time of diagnosis is very important. For instance, short-term psychological support (e.g., counselling) at diagnosis and considerate diagnostic delivery have been found to reduce stress and enable families to cope better. Continued psychological support and access to specialist knowledge after diagnosis have shown to be beneficial in strengthening the relationships between family members and improving their quality of life.

Most families however continue to rely on parent support groups and charities for relevant information, emotional support, and mutual understanding due to the rarity of specialist psychological support available to them. This is not helped by the lack of guidelines around psychological support for caregivers of children with rare diseases at the time of diagnosis.

Conclusion: The authors hope that these results will be used to develop such guidelines.

Original article: Kenny, T., Bogart, K., Freedman, A., Garthwaite, C., Henley, S.M.D., Bolz-Johnson, M. & Woodman, D. (2022) The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis. Rare Dis Orphan Drugs, 1, 7


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