The story of Richelle
After many years of knowing something was wrong with our son and many years fighting and pushing for more answers –
we finally received a diagnosis when our son was 5. Our son has Champ1 disorder. Instead of having a more common mutation of the Champ1 gene 13q.34 our son has a deletion of this gene. It does not exist. It’s like a book missing on the bookshelf. We still don’t know a lot about how our kiddos with Champ1 deletion are affected. They seem to have less severe symptoms of the mutation. Our son started off with severe speech, severe communication, severe physical & fine motor delays. With intense therapies and interventions through his school, a home team, and us…… he has made lots of progress. As he gets older we hit new bumps but we will never stop fighting for our son. He is a little complex medical mystery but our Champ1 diagnosis has given us a starting place. Our son has hypotonia that affects a lot of his body, right down to the muscles around and in his mouth. He has no reflexes in his legs. He had a tumour (non cancerous) on his tounge last year. He struggles to gain weight. He has a mild intellectual disability, severe motor planning delay, ocd, anxiety, cognitive delays, fine & gross motor and speech delays. He is a bright soul that can light up the whole room with his goofy smile or his contagious laugh. He wears his heart on his sleeve. We will continuously learn more as he gets older and we will never stop supporting him in the best possible ways to give him the best chance of having a good quality life!! He is 8 years old. Champ1 disorder is being researched and I believe over the next couple of years we will also learn more about Champ1 deletion .