Toby was born on 26/12/04 following a normal pregnancy. He is our third child, with an older brother and sister. Within a few hours of the birth it became clear that Toby was having difficulty breathing. A heart murmur was detected and when his condition continued to deteriorate he was transferred from our local hospital to Southampton Paediatric Intensive Care Unit.

Toby had not yet ‘poohed’ spontaneously, so within a few hours of being at Southampton was diagnosed with Hirschsprungs Disease (long section). It transpired that his distended stomach was the cause of the respiration difficulties and 8 days after birth was given an Ileostomy.

» Read More About Toby and other families affected by Mowat-Wilson Syndrome in our Patient Profiles section