A Rare Journey

Estimated reading time: 3 minutes

It is time like these where I have a chance to sit back and think back on our research experiences. Likewise, we participate and complete surveys, as it helps us gain more information on 16p11.2 microduplication. (to make informed decisions for our son).

Lausanne Switzerland.

We visited Lausanne in Switzerland for neuropsychological assessments on 16p11.2 duplication. My son, his 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. Additionally, I had to ask for directions to the university hospital, (speaking in French).

It felt like a surreal experience that we were flying to Switzerland for research for our child; but we understood the importance of this journey for our son, family, and future research.

Cardiff Wales.

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.

Afterwards, 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.

Emotional and Rare Journey.

Emotional Journey.

Sometimes I question myself. (when it comes to my son’s needs associated with his chromosome diagnosis). I think, am I asking the right questions? Am I asking too many questions or not enough? Or do I go with my instinct/intuition? Sometimes our experiences 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 understand that advocating can sometimes mean going against the status quo to access the right support. Also, I have moments of feeling lost; but what I do have is a love for my child to overcome any future barriers that we may face.