This is my son Jasper who has just turned 7 years old and he has a rare disease. 72% of rare diseases are genetic conditions A teeny tiny part of jaspers DNA on arm 15q.11.2 is missing.It’s so tiny it’s called a micro deletion but it affects jaspers life in a BIG way. 

I started questioning Jasper's development when he was 18 months old as he wasn’t hitting milestones and his speech stopped suddenly overnight. After years of assessments and tests Jasper has also been diagnosed with ASD and ADHD. It was part of these assessments that we found out about jaspers deletion and also discovered I myself have it! This particular deletion the traits of are so variable but I’ve been told by the genetics team that is more than likely the reason for jaspers complex needs. Jasper struggles with sensory, sleep, communication, regulating his mood just to name a few. 

Despite this Jasper is doing well in a mainstream school where he has a full time 1.1 in a mainstream setting since he was 3 years old. He is very cheeky, has the biggest smile, cracks me up with his sense of humor  and his favorite thing in the whole world is Super Mario.

Written February 2022