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Rare Condition Steals Sight, Not Spirit
28 Feb
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.
Zimbler, now registered blind, notes that public misunderstanding presents greater challenges than her visual impairment. Misconceptions about weight and appetite are common, whereas the faulty gene affects her brain's satiety signals. She also clarifies that being registered blind does not mean complete absence of vision.
Dr. Punam Krishan, an NHS GP, explains that BBS causes gradual mobility decline, with early signs like unsteadiness and muscle weakness often overlooked. Home adaptations can significantly aid independent living for those with BBS.
Despite her diagnosis, Zimbler remains active, traveling extensively and enjoying concerts, including those by artists like Beyonce and Lady Gaga. She emphasizes the availability of support through BBS UK and the importance of her husband, family, and friends in living a full life.
BBS UK underscores the significance of Rare Disease Day in raising awareness for lesser-known conditions. Tailored support from health, education, and community services is crucial for individuals and families living with BBS, helping to reduce isolation and improve understanding.
