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”.
Rare Reality
Let’s Talk About Rare Disease
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.
Global Rare Chromosome Disorder Awareness Week
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.
Rare Disease Day
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.
Diagnosis: A Dad’s Perspective
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.
Diagnosis: A Grandparent’s Perspective
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)
Diagnosis: The Journey Ahead Part Two
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:
Diagnosis: The Journey Ahead Part One
To understand where I need to go, I must first look at where I have been. Let's start from the beginning…. My son was born weighing 9lb 1 ounce. He was even an early walker at 9 months. The only concern at the time was his inability to sleep.
