It’s been almost 1.5 years ago that my youngest son was diagnosed with autism and a rare neuro developmental disorder called 16p11.2 proximal duplication. Which makes him so rare is that not all 16 th chromosomal abnormalities develop into any other genetic anomaly and in some cases it does. He’s in the 1 % where the duplication develops into autism affecting his central nervous system, auditory system, visual system, as well as his sense of taste and smell.
Essentially the disorder means that he has an extra band of DNA in the 16 th area of his chromosome. We all have one individual band on each side of our long and short arm of our chromosomes. In my son’s case he has 3, one on his left arm and 2 on his right. All this extra genetic material can manifest into other disorders such as ADHD, ODD, OCD, and mood disorders such as bipolar depression, schizophrenia, and learning disabilities.
My son can also be affected medically with auto immune disorders, spinal growths known as chiarri and a possibility of tumours. I just learned of his diagnosis almost 1.5 years ago which led to the diagnosis of autism level 3 stated in the DSM 5. Which means he’s needing substantial support for resistant and persevasive behaviours.
I will admit when I heard his pediatrician give his diagnoses I cried and I shook so hard that I fell off my chair! I completely lost control while the doctor said she was sorry over and over again. What was she sorry for? Her world didn’t change in an instant? This is my first time writing about it as I had to process it.
In the meantime I’ve gone into my “Mom research mode” and learned more of how to help my son. I recently met with a geneticist for counselling and she provided me with some more information. She was impressed that I was aware of so much already. I was left on your own after my son’s paediatrician left her practice so I didn’t have a choice.
I’ve always referred to my son as my SPD (Sensory Processing Disorder) Superhero now he’s my champion. I never knew what his life would hold for him as I held him in my arms when he came into the world. He was a tiny 6 lb, 2 oz bundle of joy with a fighting spirit. Now he’s grown into a strong, independent, precocious, fun loving, six year old boy. He has had a lot to contend with in his young life. Along with his autism and rare diagnoses he also has other disorders.
The first discovery after his assessments was Global Developmental Delay. Meaning he has a severe deficit in two or more motor skills. This label phases out after the age of 5 developmentally as a child ages. My son has a severe recessive speech deficit and moderate expressive language, as well as severe fine motor skills and moderate gross motor skills delay. He’s verbal but needs instructions broken down for him in a way he can understand. All this new information leads to yet another diagnosis of Intellectual Development Delay
For eg: First, Then, and After. Which helps him process things better with his executive functioning skills. He also has asthma and Obstructive Sleep Apnea that’s controlled with medication. He’s a sensory seeker and has sensory processing disorder, in particular Sensory Modulation Disorder. He can’t spin in a circle in one direction for too long as it overstimulates his vestibular sense. I have to make sure he spins clockwise and counter clockwise or he’s crashing into walls and people. When he was a toddler I used to have to duct tape a body pillow to the wall so he wouldn’t injure himself!
His proprioception sense is weaker so I use a lot of visual spatial concepts and cues to help him understand. He gets very visually overstimulated so I use a white board or visuals to help keep him on task. He’s also wearing his glasses in school to help with that. He has also completed a one year developmental therapy contract having a Behavioural Aide and psychologist working with us in our home. As well as an Educational Aide at school and a Community Aide to help with the social and behavioural aspect.
We use a white board inside and outside the home using the first, then, and after sequence of events. We visual cues (tapping body parts), stating the name of each body part in motion, and crossing the midline, and using visual pictures. My son responds very well to all the above as well as repetitive speech. I’ve seen him struggle with leaving the house to happily going on an adventure.
Every Dr’s appointment, geneticist visit, hospital checkup, and ride to school is an adventure for him. The reason why is because I make it this way by using social stories, sentence strips, and role playing to help him motor plan and process the visual and auditory information. We work diligently to not overwhelm or overload him sensory wise. Our life isn’t easy by no stretch of the imagination but it’s manageable and we share love, laughter, learning, and joy.
From the first time he opened his eyes and looked at me I knew it would be him and I against the world. Now with support, education, awareness, and acceptance we’ve found our special needs village and for that we’re grateful.
Welcome to the Voices of Special Needs Blog Hop. A monthly gathering of posts hosted by the Sensory Spectrum and Jenny Evolution. Click on the links below to read stories from other bloggers about having a special needs kiddo. From Sensory Processing Disorder to ADHD, from Autism to Dyslexia! Want to join in on next months Voices for Special Needs Blog Hop click Here.
