The story of Julie
I was diagnosed with two rare diseases in 2010, the first called is a Melorheostosis is a rare and progressive disorder characterized by hyperostosis (thickening) of the cortical bone. Melorheostosis affects both bone and soft tissue growth and development. Melorheostosis can result in severe functional limitation, extensive pain, soft tissue contractures, and limb, hand an/or foot deformity. The age of diagnosis is typically based on the severity of onset and symptoms. On x-rays, the appearance of melorheostosis been likened to flowing, melted candle wax – .9 people in a million develop this disease every year. I was 46 when diagnosed with is during a CT biopsy scan do diagnose a lump that I found in my upper thigh. This was later discovered to be a Desmoid Tumour (Aggressive Fibromatosis). It is a locally aggressive, non-matastesizing tumour which takes over the local tissues. Mine is in my leg and I have had a recurrence and am undergoing my third round of chemotherapy to stop it destroying my upper right thigh. 3 to 4 people in a million get this tumour every year. It continues to be a long journey and with these tumours no one treatment works for no one patient. It is rather hit an miss.