Bardet Biedl Syndrome, I don't think you have heard of me: Rare genetic disorders

In the 1920s, most of UK was recovering from the World War I but two doctors were occupied studying two families with unique features and persisting obesity. Those doctors were Bardet and Beidl. They noted that these two respective families had members with obesity, polydactyly (more than 5 digits per hand or feet), and retinitis pigmentosa (this isn't a spell but rather an unfortunate cluster of processes that lead to loss of the cells that "see" light and color and thus lead to vision loss slowly). 

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"I am grateful for this opportunity to voice my experience as a person with Bardet Biedl syndrome. Let me start from the beginning. My parents were new immigrants to Canada when they were expecting me. I have heard from my parents and siblings how doctors would say "I'm sorry your baby has a genetic disorder" or "Your child will not live to see past the age of 16 years." At some point I am sure my family felt hopeless especially when they saw their 6 year old child unable to speak or walk and by this age having already experienced numerous seizures and countless hospitalizations.  

To my geneticist, I was a child born with a ciliopathic rare genetic disorder and all they could offer were stats and reassurance. My presentation was so rare that even resources were scarce. However, from the support I got from my school teachers, language and speech specialist, neurologist, plastic surgeon and pediatrician, I felt invincible! Living in the amazing country that Canada is, I was provided with "shields" to protect me and help me face the world. 

Today, I am in a life skills program at high school and I have lived past the expiration date of 16 years that the doctors recited. I am able to do most normal functions even though it took me a lot longer to gain those skills. I do have the unfortunate barrier of "night blindness" and living in a province where it gets dark after 5pm for 6-7 months this can be challenging. Sometimes I do get sad seeing my siblings and peers getting drivers licenses and I am not allowed to drive. However, the Canadian Blind Society not only took me for training session but also equipped me with the resources I need when out after dark. 

I love mountains. Usually I feel like a mountain, standing strong against the violent of winds. Of course mountains signify the ups and downs that everyone faces in their lives!

I have felt alone, I have felt scared and I have in painful tears asked my creator why he made me like this. Honestly, it is hard but I have come to terms with my disease and I know I am unique. I bring a perspective to this fast paced world that we all fit in and life isn't a race. I am not broken nor am I last. 

Reflecting back on my life, my sister thought of a poem that I wanted to share with you.

I am rare, not less.

I stand out from the crowd,

Sometimes it hurts when people stare, I must confess

I shine through the layers of struggle even if it appears like a mess

It's a lonely journey but I am proud

Proud that I created an address.

An identity of being rare, resilient and no less

I am grateful for this life and I say this loud,

I am rare, not less. 

I am hopeful this short read was informative and hope you learned something new about a rare genetic disorder that has no cure or treatment. If you would like to learn more about Bardet Biedl and rare genetic disorders, please see the links below."

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Helpful Resources From the Anonymous StoryTeller: 

https://www.frontiersin.org/articles/10.3389/fped.2018.00023/full

https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/

                                                                                              - Anonymous