Rare Disease Left Me Blind and Obese: A Decades-Long Diagnosis Journey
Rachael Zimbler has spent the last 14 years adapting to life with Bardet-Biedl Syndrome, a rare genetic disorder that has gradually robbed her of her sight and brought a host of other debilitating symptoms. She shared her poignant story with Reach in observance of Rare Disease Day, marked annually on February 28 to spotlight the struggles faced by individuals worldwide affected by uncommon conditions.
The Elusive Diagnosis and Symptoms Explained
Rachael's condition stems from an inherited gene mutation, leading to a constellation of seemingly unrelated symptoms that baffled doctors for years. "Once I was diagnosed, things clicked into place and made sense as to why I had certain challenges to overcome," she revealed. According to BBS UK, only about 700 people in the country are known to have this syndrome, which can include peculiar features like extra fingers or toes. The rarity of Bardet-Biedl Syndrome often results in significant delays in diagnosis, and tragically, there is currently no cure.
Some of the symptoms Rachael experienced, which suddenly became clear after her diagnosis, include:
- Wide feet and overcrowded teeth
- Obesity coupled with a constant sensation of hunger and never feeling full
- Epileptic seizures and Type 2 Diabetes
- Night blindness and progressive deterioration of sight
Living with Blindness and Public Misconceptions
Now 45 years old, Rachael's vision has worsened over the past decade, leading to her being registered blind. While this is the most profound impact of BBS on her life, she emphasizes that the biggest challenges often stem from public misunderstanding and lack of awareness.
"Being a woman of a larger size makes people think that I probably overeat and don't exercise, which is not true at all," Rachael explained. "The faulty gene in my brain does not work, and no matter how much food I eat, I still feel hungry and don't feel full." She also highlighted misconceptions about blindness, noting that being registered blind doesn't mean total loss of vision. "You can still have some small useful vision and do things. I want to keep my independence and do as much for myself as possible," she added.
Medical Insights and Mobility Challenges
Dr. Punam Krishan, an NHS GP, provided expert insight into the condition. "This condition causes a gradual decline in mobility, with early signs like unsteadiness when walking, muscle weakness, and difficulty getting out of chairs or climbing stairs, which can be easy to dismiss," she said. In collaboration with stairlift and home lift brand Stannah, Dr. Krishan noted that Bardet-Biedl Syndrome can also involve progressive vision loss, ataxia (poor coordination), and musculoskeletal issues such as hip dysplasia, all impacting movement capabilities.
"Despite mobility eventually worsening, home adaptations can help someone with BBS continue to live independently in their own space in a way that meets their individual needs," she advised.
Embracing Life Despite Challenges
Rachael has refused to let her rare diagnosis hinder her from living life to the fullest. She has traveled extensively, visiting family and friends from Australia to Egypt, and enjoys attending concerts, even securing tickets for Beyonce and Lady Gaga last year. A resident of Stockport, she frequently attends audio-described theatre performances, dines out at restaurants, and listens to football matches.
"Life is precious, and yes, living with a rare genetic syndrome can be challenging, but there is so much support available through BBS UK," Rachael stated. "You are never alone, and you can always reach out for support. For me, having such a supportive husband, family, and friends allows me to live my life to the full and do as much as possible in my everyday life."
Raising Awareness and Support
BBS UK commented on the importance of Rare Disease Day, stating, "It is an important moment to highlight conditions that are often little known or misunderstood. People and families living with BBS need tailored support from health, education, and community services to thrive. Raising awareness helps reduce isolation, improve understanding, and ensure people with rare conditions are better supported across all areas of life."
