My life with Bardet-Biedl syndrome is about more than a diagnosis
I may live with blindness and a rare disorder, but they don't define me
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From birth, my story was marked by uncertainty. My kidneys were so enlarged that doctors didn’t expect me to live. At first, they believed I had autosomal recessive polycystic kidney disease, but then I survived.
As I grew, doctors continued to keep an eye on me and closely monitored my kidney function. But there was still a mystery surrounding my health. As a toddler, I was able to express that I couldn’t see in the dark, and by age 4, I was diagnosed with night blindness.
During a follow-up appointment with my nephrologist, my parents updated the doctor about my symptoms. Around that time, the doctor had come across a research study about a newly recognized condition called Bardet-Biedl syndrome (BBS). Suddenly, the pieces of the puzzle started to fit together. Genetic testing was done, and by age 5, I was diagnosed with BBS.
BBS is a rare genetic condition that affects many parts and functions of the body, including vision, kidneys, weight, and more. It looks different for every person who has it. In my case, the most life-changing impact has been my vision loss.
A long road to treatment
My journey with vision loss began with night blindness. For the first few years, my daytime vision was still pretty good, but that changed suddenly in fourth grade. One day, I could no longer see the chalkboard or the fine lines of a pencil. Since then, my vision has progressively worsened. Today, I have very limited vision.
BBS has impacted nearly every part of my life, from kidney disease and obesity to obsessive-compulsive disorder and blindness. BBS affects far more than people often realize. Even simple everyday tasks can become exhausting and frustrating. As a girl who loves fashion, just putting together an outfit can be difficult. Doing my hair or makeup often requires asking for help, which can be frustrating because I have to rely on someone else’s eyes instead of my own.
Living with both blindness and OCD truly felt like a double whammy. Being mostly blind with contamination OCD was terrifying because I couldn’t fully see what I might be touching, and the fear of the unknown was overwhelming.
At my worst, OCD consumed nearly every aspect of my life. My world became smaller and smaller. Eventually, I knew I needed help, but finding treatment became another battle. Many programs turned me away because my case was considered too complex. My blindness and OCD created challenges that many healthcare providers weren’t equipped to handle.
Determination eventually led me to the Neurobehavioral Institute, and with exposure therapy and horse therapy, and by learning to use my white cane, I began to face the fears that had once controlled me.
Today, I still struggle with OCD at times, but it no longer controls me. I still live with blindness and a rare disease, but they do not define me. I strive to live life to the fullest every day. I fill my days with boxing, rowing, riding horses, babysitting, volunteering, writing, and working for the Bardet Biedl Syndrome Foundation.
I share my story to spread awareness about rare disease and to help others feel less alone. Living with BBS has not always been easy, but I believe there is power in telling the truth about our experiences. My hope is that by sharing my story, someone else will feel seen, understood, and reminded that they are not walking this road by themselves.
I am so much more than BBS, and I look forward to sharing the other pieces of my story as well.
Note: Rare Obesity News is strictly a news and information website about these disorders. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Rare Obesity News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to rare obesity disorders.
