Edition of 15 February 2024

In anticipation of this year’s Black Pearl Awards, EURORDIS has continued to announce this year’s awardees. Since the last edition of OrphaNews, the laureates of the Holistic Care Award and the Company Award for Patient Engagement have been revealed.

The Holistic Care Award has been awarded to RareResourceNet – European Network of Resource Centres for Rare Diseases. RareResourceNet was founded in 2018, and aims to advance holistic, high-quality care and services for people living with rare diseases across Europe by establishing a European network of resource centres. This award recognises the importance of their mission, as well as the network and member resource centres’ achievements in elevating care standards.

The Company Award for Patient Engagement has been awarded to Pierre Fabre and the EspeRare Foundation for their commitment to serving and empowering the rare disease community through trust-building activities and their collaborative approach.

Voting is also now open for the 2024 Photo Award. From the hundreds of submissions, seven finalists have been selected for the public to vote on. From now until the awards ceremony on 20 February, cast your vote to determine the winner.

2024 Photo Award finalists (via EURORDIS)

The Black Pearl Awards are an annual event, organised by EURORDIS, meant to honour key actors in the rare disease field who are driving positive change. This year’s awards ceremony will be held on 20 February 2024 in Brussels and online. Registration is currently open for both in-person and virtual attendance.

Recently, a study was published in Qualitative Health Research which uses narrative analysis to uncover the daily experiences of mothers caring for children with Prader-Willi syndrome (PWS). By understanding the daily challenges caused by managing the physical and mental health issues associated with the disease, researchers were able to identify recommendations for practice and policy, demonstrating how similar methodologies can be used in research on other rare diseases to improve the quality of health and social care available to patients and their families.

PWS is a rare, complex neurodevelopmental disorder with intensive care needs, which often fall on the shoulders of mothers. Existing knowledge of PWS focuses heavily on its pathology, omitting the everyday challenges encountered by families. Over the course of a year, four mothers of children with PWS were interviewed multiple times to illustrate these experiences.

Researchers identified themes focusing on the complexity and rarity of PWS, including the desire to be normal, how ordinary becomes extraordinary, isolation, behaviours and normative standards, and alternative stories of mothering. Based on these results, they co-developed with participants four key recommendations:

• Recognition of the challenges of mothering a child with complexity;
• Moving beyond functionality and impairment to participation and quality of life;
• Re-storying narratives and supports for families;
• Engaging with mothers to determine care priorities.

Implementing these recommendations could lead to a higher quality of available care and support for families affected by PWS. The findings of this study highlight how more qualitative research methods such as narrative analysis can be used in rare disease research to identify care and policy priorities to improve the lives of people living with a rare disease and their families.

A new study has been published in the Orphanet Journal of Rare Diseases describing the development of a web-based psychological support program for caregivers of children with chronic rare diseases (WEP-CARE).

Many rare diseases have symptom onset during childhood, therefore placing a large burden on caregivers due to the high level of nursing care required and uncertain prognosis. This puts caregivers at high risk of psychological distress, while also creating a barrier to them being able to access appropriate psychological care. In order to make such care more accessible to these caregivers, researchers developed WEP-CARE and analysed its effectiveness compared to the current standard of care in a clinical trial.

WEP-CARE is a writing therapy tool based on cognitive behavioural techniques, designed to be asynchronous so as to work around parents’ scheduling constraints. It aims to reduce parents’ psychological complaints such as anxiety, depression, and fear of disease progression, while also enhancing factors such as quality of life and mental well-being.

In order to establish the feasibility and efficacy of WEP-CARE, a clinical trial was conducted among German-speaking parents of children with chronic rare diseases. In the domains of anxiety, fear of disease progression, depression, and coping, WEP-CARE was found to be superior to the standard of care. These results were also found to be sustainable through a 6-month follow-up assessment. These results, combined with the satisfaction of both participating parents and therapists, indicates that WEP-CARE is both feasible and effective for parents of children with rare diseases.