We remain registered with Simons Searchlight (originally named Simons VIP Connect) since 2014. (who we found out about through Unique)They are international researchers who study “conditions that can be extremely rare”.
I have already filled out the National Conversation on Rare Diseases Survey. We do not have to shy away from speaking openly about our experiences of a rare disease.
Over time, I was in deep thought about what I wanted for my son and what kind of world I wanted him to live in. The conclusion was that I want my son to be able to be himself, and from that, I knew that it was necessary for me to raise awareness about his diagnosis. Allowing others to have a better understanding of his disorder.
Today, 28th February 2019 is Rare Disease Day, a day where people with rare diseases are celebrated as well as raising awareness and improving knowledge of rare diseases.
Even though me and my son’s dad are not together, I thought that it would be helpful to understand his perspective on our son’s diagnosis. He also has a diagnosis of 16p11.2 duplication.
I thought that it would be interesting to have an informal discussion with my parents to find out their perspective on having a grandchild diagnosed with 16p11.2 duplication and Autism Spectrum Disorder (ASD)
Still coming to terms with the diagnosis, I did the worst thing you could do. I googled the disorder. You know when you pick up a prescription and read the list of side effects and think that you could get all of them? Well, it was exactly like that: