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RARE Reports

The impact of RARE disease on sibling experience impact report, undertaken by RARE Revolution Magazine and supported by Alexion, AstraZeneca Rare Disease, aims to give a voice to RARE siblings. The report shares the personal insights of young people living with RARE embedded into the fabric of their family life, who want—and deserve—to be recognised, supported and heard.

The study comprises insights from 52 RARE siblings across two age categories: 23 participants aged 8–16 and 29 participants aged 17–25, alongside facilitating carers, captured in June and July of 2022. Participants from the UK and USA represent over 35 different rare conditions. Through the invaluable insights provided by these RARE siblings, the report highlights the impact siblings experience in their education, family life and relationships and makes recommendations to support and nurture this unique group of young people. Insights and recommendations can serve as a useful guide to all organisations operating in a support capacity within rare disease—aiding their short and long term strategic aims for whole family support.

Bardet Biedl Syndrome (BBS) is a rare genetic disorder of recessive genetic inheritance, which is estimated to affect approximately 1 in 250,000 people globally (however, most references suggest 1 in 150,000 in the US and EU) . There are thought to be more than 20 different genes associated with BBS and the symptoms and prognosis vary considerably across individuals.

Primary symptoms include retinal degeneration resulting in vision loss, obesity, skeletal abnormalities presenting as extra digits to the hands and/or feet, impaired kidney function and learning disability.

A diagnosis of BBS can have a profound impact on individuals and their caregivers, and for many there remain considerable unmet needs.

The following survey looks to identify these unmet needs and give a voice to the experiences of individuals and their families, with the view of developing a deeper understanding of the disease life cycle and its real-world impact. This report explores BBS from the perspectives of those who live with, or care for, loved ones affected by BBS.

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