It was the silence that Michelle noticed first when her third child James was born. Her newborn did not make a single sound. He was immediately whisked off to special care and Michelle did not see her baby for the first 12 hours. James had imbalanced blood sugar, no sucking reflex and couldn’t open his hands or move his head. At just 3 days old he had MRI and CT scans before a geneticist was called to assess him.
Michelle says: ‘My husband and I were in bits. We didn’t know what to expect. We didn’t know if James was going to make it or not. It was a harrowing time’.
James was finally diagnosed at 9 months old, with Sotos syndrome, a rare genetic disorder that causes overgrowth, developmental delay and affects mobility. Children with Sotos syndrome are usually very tall, heavy and have a larger head, as well as low muscle tone. The syndrome affects 1 in 20,000 children.
Now at 3 years old, James wears clothes for a 5-6 year old, yet has the developmental age of a child at just 12 months. He has just started walking with support but does get tired very quickly. He also suffers from more coughs and colds than other children. Despite this, James is a happy smiley boy and has made real progress; he can open his hands out and reach for things, and is able to use a sensory app on the iPad to make choices. Although there is a lot of uncertainty about Sotos syndrome, James is lucky to receive lots of support.
The money raised this Jeans for Genes Day will go towards funding a crèche and evening entertainment at the Child Growth Foundation’s annual convention. The convention enables families with an affected child to meet other parents in the same situation, and is a lifeline for those families feeling isolated.