For most of her life, Andie’s family didn’t know why the left side of her body was larger than her right and why she had facial and dental abnormalities, along with vision and hearing impairment. It was through global collaboration that doctors finally received the diagnosis of an extremely rare condition, RHOA related mosaic ectodermal
When Sam and his twin brother, Brody, were born, his mum and dad suspected something was not quite right. Sam displayed the features of spinal kyphosis, curvature of the spine. After visits to a succession of health professionals, blood tests revealed Sam’s condition, MPS1. The lack of a certain enzyme causes a build-up in the
Walking into the Emergency Department at the Perth Children’s Hospital with their sick two-year-old daughter Amelia, Brianna and Russell felt almost embarrassed about their concerns for her. “I originally thought that Amelia was dehydrated from a tummy bug,” says Brianna. “I honestly thought I was overreacting… I thought the doctors were going to tell me
Your support will make a huge difference to the lives of sick children like Samuel. Samuel’s mother Martina was 20 weeks pregnant when she went in for a scheduled scan. She was on her own without her husband Dan, expecting the ordinary update she’d received with their older children. “Getting the diagnosis, it came as