The story of Jeanine
Today is rare diseases day and I want to share a story with you about my son He is my superhero. He has a rare genetic disorder called 16p11.2 proximal micro duplication. Essentially it’s a section of his chromosome that duplicated. This has led to an associated diagnoses of ASD/ADHD/SPD. Which had led to more conditions such as Obstructive Sleep Apnea, asthma, and sub-clinical hypothyroidism. There are also co-morbidities that we need to be aware of such as mood disorders, learning disabilities, developmental delays, behavioural issues, chiarri malformations, epilepsy and the psychiatric condition of schizophrenia. He struggles with regression and food avoidance and has a small list of safe foods he will eat. It’s not his fault it’s the extra genetic material that he was born with causing his brain to be wired differently. Even though his different abilities are invisible to most they are still there. Our mantra is Temple Grandin’s “different not less.” Especially on those days where emotional dysregulation looks like dysfunction in society. When the world is more aware of his behaviours as a sign of my lax parenting skills than his neurological disorders. When we’re judged for a public earth shaking meltdown because the world has become too sensory overloaded for him to handle. When everyone sees the behaviour and not the precious boy that he is. With all that extra DNA that he carries, all that he endures, and all the accomplishments he’s made with being non verbal, to semi verbal, to a word explosion when he turned 4, he’s the greatest superhero I know. All we need is autism awareness and acceptance daily not just one day. He is loved, he is cherished, he is our little miracle. One day at a time, one step at a time and one breath at a time. ❤️