It is time like these where I have a chance to sit back and think back on our experiences of research on 16p11.2 micro-duplication.
We participate in research, and I complete surveys (when I am made aware of them) as it helps us gain more information on 16p11.2 micro-duplication to have the confidence to make the best decisions for our son.
We visited Lausanne in Switzerland for neuropsychological assessments on 16p11.2 duplication. My son, and my son’s dad and I flew out to Switzerland for the research.
There were beautiful mountains in the distance from our hotel. In hindsight, we should have booked a few more days there so that we could take in the sights; however, the purpose of our visit was for research.
We saw double-decker trains for the first time, and I had to ask for directions to the university hospital in French.
It felt like a surreal experience that we were flying to Switzerland for research for our child’s rare condition, but we understood the importance of this journey for our family and the future.
My son participated in research on 16p11.2 duplication (and deletion) as part of the Echo Study (Experiences of CHildren with cOpy number variants). Researchers visited our home from Cardiff University. One part of the study was to investigate how many children with 16p11.2 also have a learning disability.
A while after the study, we were invited to visit Cardiff to meet up with other family members who also participated in the research. This time, it was my mum, my son and I who went on the train journey to Cardiff.
We stayed overnight and had a chance to talk with families and ask the researchers questions. After meeting the research team and family members, we visited Cardiff Castle and went on a sight-seeing bus tour.
Sometimes I go on an emotional journey of questioning myself (when it comes to my son’s rare chromosome disorder), am I asking the right questions? Am I asking too many questions or not enough? Or do I go with my instinct or intuition? Sometimes our journey can be empowering, confusing or an opportunity for new experiences (or all three at once). There are also times when it can be incredibly lonely.
Throughout the years, I have developed an understanding of why it is essential that I advocate on my son’s behalf and be vocal, which means sometimes going against the status quo.
I do not know everything, and have moments of feeling lost, but what I do have is a love for my child that gives me the strength to overcome any barrier that we may face in my son’s journey to finding his path in life.