For my major project, I started by writing a guide to explain the science behind a rare genetic disease in language accessible to the general public. This was a rather personal project for me because my little brother is diagnosed with this disease, Creatine Transporter Disorder (CTD). Due to the rarity of the disease, little information is available for patients, families and even some of their health practitioners. The hope was that this guide might also lead to quicker diagnoses and better care, even if my initial aim was to support families’ understanding.
I started writing the guide on my own. However, my solo venture soon got extended. I thought it would end up a simple document to print and share with lots of information. This course pushed me to make time for the project and really get it off the ground. I contacted doctors, international organisations, and pharmaceutical companies for their input. I asked dr. Jiddeke van de Kamp, a Dutch researcher who did a lot of work for this disease to be my project mentor. Her feedback and contacts helped the project take-off. All these experts provided me with new information, gave feedback on the writing, and connected me to others.
Before I knew it, the guide was finished and I contacted organisations to distribute it. This is where my major project was greatly extended beyond my expectations. I was then invited to present the work at a conference in Utah, USA. I started to build a network there. I’m currently working with a French patient’s mom to set up the next symposium in Paris. The guide is also being translated into Dutch, French and German.
“Choose something that fits your interests or curiosity. Don’t be held back by the challenges because this might end up being the most fun part of the project!”
For me, the most challenging aspect of this project was the public speaking and approaching people at the conference. However, I soon learned that researchers, doctors and families appreciated the conversation and my expertise. Our communication efforts brought people together. Interestingly, I learned about myself that the part of the project I expected to be most challenging, was what I finally enjoyed most.
Throughout writing this guide, I’ve met some wonderful people, all are aiming to improve and support the lives of CTD patients and families. I'm still involved now by representing Dutch patient families as a global ambassador of the international association for creatine deficiencies.
