In 1951 a two year old infant Sheila Jones was diagnosed at Birmingham Children's Hospital (BCH) with a rare condition Phenylketonuria (PKU). There was no treatment but, not accepting this, her distraught mother Mary persevered until she found help from three pioneering doctors at BCH: Dr Horst Bickel, Dr John Gerrard and Dr Evelyn Hickmans. In the hospital laboratory they worked tirelessly to prepare a special formula and Sheila was the first person in the world to receive dietary treatment for PKU. Until now, little has been known about the life of Sheila, and her family in Birmingham, and the hardships and sacrifices they endured. It is a remarkable story of a brave little girl, her brothers, and her courageous and tenacious mother. Sheila's contribution is immense; it led to the introduction of newborn screening and worldwide treatment for PKU. It is a great sadness that Sheila herself was unable to benefit long term but her legacy is a triumph for all those with PKU. This is Sheila's story until her death in Birmingham in 1999 and will be important to people with PKU, their families, health professionals and readers interested in the history of medicine.