When Tom was 3 years of age, we met with the geneticist at the Royal Children’s Hospital in Melbourne to be told that our child with the obscure but hopeful diagnosis of “Global Development Delay” ( “he will catch up “) actually had a rare condition called Xp 11.3, 11.4 deletion…..that day turned my whole world upside down.
This deletion affects the CASK gene, NDP gene and MAOA gene. At 3 years old, Tom has 10 words, low muscle tone, poor gross and fine motor skills, difficulty climbing and running, auditory delay, tremor in his hands and difficulty managing his behaviour when anxious. He also has a metabolic condition called MCADD which means he is unable to break down his medium chain fatty acids for energy (this causes problems when he is unwell and hospital visits and drips ensue) Due to his affected communication, our lives have become a guessing game of what is happening and how can we best help him.
I have contacted all the rare disease support groups in America, United Kingdom and Australia and so far, I have not been able to find anyone with the same deletion…. fingers crossed, we will and be able to share our thoughts and stories about our son and what the future might hold for us. The idea of the unknown future ( health, abilities, independence, quality of life) is one of the scariest of all when you have a child with extra needs.