What is Bardet-Biedl Syndrome (BBS)?

Bardet-Biedl Syndrome (BBS) is a rare genetic condition caused by an inherited gene mutation, leading to a range of symptoms including progressive vision loss, mobility decline, and sometimes extra fingers or toes.

How does Bardet-Biedl Syndrome affect mobility?

Bardet-Biedl Syndrome causes a gradual decline in mobility, with early signs such as unsteadiness when walking, muscle weakness, and difficulty with movements like getting out of chairs or climbing stairs.

What support is available for people with Bardet-Biedl Syndrome?

Support is available through organizations like BBS UK, and home adaptations can help individuals with BBS continue to live independently in their own homes.

Home / Health / Rare Condition Steals Sight, Not Spirit

Rare Condition Steals Sight, Not Spirit

28 Feb

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Summary

Rachael Zimbler manages Bardet-Biedl Syndrome, a rare genetic condition.
The syndrome causes progressive vision loss and other distinct symptoms.
Zimbler advocates for understanding and maintaining independence.

Rachael Zimbler, now 45, has been managing Bardet-Biedl Syndrome (BBS) for 14 years, a rare genetic condition that has led to her gradual loss of sight. Diagnosed with the syndrome, which results from an inherited gene mutation, Zimbler found clarity regarding various life challenges she had faced.

Bardet-Biedl Syndrome affects approximately 700 individuals known to BBS UK and can manifest with unusual symptoms, including extra digits, alongside progressive vision loss. Delays in diagnosis are common due to the condition's rarity, and there is currently no cure.