Embracing Uniqueness: My Journey with Koolen-de Vries Syndrome

I’ve often encountered scepticism and disbelief since being diagnosed with Koolen-de Vries syndrome. Comments like, “You don’t look like you have a syndrome,” or “You articulate yourself very well for someone with learning difficulties,” have been frequent responses to my social media posts, videos, and face-to-face conversations. These interactions have unveiled the deep-seated stereotypes people hold about syndromes, disorders, and learning disabilities. Society tends to expect a certain look, behaviour, and manner of speaking from individuals who are neurodiverse.

 After being questioned and doubted about my diagnosis, I’ve made it my mission to show the world that people with disorders and disabilities are unique individuals. With their own voices, appearances, and abilities, they deserve to be seen and valued for who they are, regardless of whether they fit societal stereotypes. I was diagnosed at age 38, along with my youngest two children. The initial shock of the diagnosis soon gave way to clarity, explaining why I always felt different from everyone else. My ability to learn and be productive compared to most others was a significant struggle. The frustration I felt watching others breeze through simple tasks while I took much longer was not only infuriating for me but also for those around me. Whether I was working at a retail store, managing orders in an office, or doing household chores, I always took a painfully long time compared to others.

During a particularly emotional time, with a loved one battling cancer, I decided to search for more answers about my mental health state. My GP referred me for a neurodevelopmental assessment for my many ADHD symptoms. Conventional roles and expectations have always been extremely hard for me to meet. There was a time when this caused me to reject myself, feeling that not being “normal” meant I was less than others and had no place to belong. I fell into deep despair, believing my life would continue to be one of failure and rejection. Yet, incredibly, my rare disorder diagnosis for Koolen-de Vries syndrome, and that of my two youngest children, changed all that. Through our diagnosis, I realized that although I didn’t have a choice about being genetically rare, I could choose how to live my life and what to make of my disorder. Imagining my children enduring the same self-loathing and hopelessness I experienced was unbearable. I began looking for ways to make a positive impact in the rare global community we were now part of.

I used my experiences to encourage hope in others, showing them that they too had a choice. We could all choose to celebrate our uniqueness by seeing it as a gift rather than a curse. While I sometimes imagine how much easier life might be with a neurotypical brain, I replace that frustration with the empowerment I choose to embrace. I don’t think, operate, live, or express myself like the majority, but I have found purpose, passion, and drive within that difference. It allows my children and me the freedom to blaze our own trails as the rare and wonderful individuals we are.

Today, I thrive in my self-created roles as a book author, content creator, and advocate for the rare disease community. I challenge stereotypes and break down barriers, demonstrating that being rare is not a limitation but a unique opportunity.

Embrace the gift, the opportunity, and the bravery in being rare. I am living proof that these qualities are there if you only dare to embrace them fully.

Written by Becky Tilley… June 2024