My son has complex needs that impact his development and learning. Over the years, he has received multiple diagnoses, commonly seen in people with 16p11.2. (Although conditions can also vary).
Today is Rare Disease Day 2021, a day to raise awareness about rare diseases and the lived experiences. Likewise, as part of rare disease day recognition, the theme of this year is rare is many, rare is strong, rare is proud.
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 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 rare disease/ rare chromo.
Initially, I found it much more difficult to speak openly about my son’s chromosome condition, a microduplication of Chromosome 16p11.2.
Today is Rare Disease Day, a day where people with rare diseases are celebrated as well as raising awareness and improving knowledge of rare diseases.
I thought that it would be helpful to take the time to understand my son’s dad’s perspective on our son’s autism and chromosome diagnosis. Likewise, his dad has a diagnosis of 16p11.2 microduplication. I also wanted to know how he felt receiving a diagnosis later on in life (adult diagnosis).
I rarely find articles on grandparents discussing their point of view when it comes to their autistic grandchild/grandchildren. Hence, I thought that it would be interesting to have an informal discussion with my parents to find out their perspective.
Myself and son’s dad met up with the paediatrician, who informed us that the signs and symptoms for this rare chromosome disorder varied greatly in people.
My son had a dislike of loud noises and being around lots of people. From the age of one and onwards, he obsessively lined up every toy in the room and repeated this over and over.