Yevgenia has just had her 5th birthday. When she was a young baby, she had an infection in her central nervous system and, shortly afterwards, viral influenza. Doctors diagnosed cerebral palsy and impaired cognitive function. At age 2, Yevgenia started to have epileptic fits and could no longer hold up her head, smile or recognise people.
Yevgenia saw a genetics specialist who diagnosed glutaric acidaemia, a congenital metabolic disorder. This means that Yevgenia needs a special diet which is low in protein and high in specific nutrients. Although the condition is not treatable, specialists at BCH were able to create a diet which has improved Yevgenia’s quality of life. The family receives regular consultations with BCH doctors and nurses and respite care at the hospice. The photograph shows Yevgenia with BCH nurse Ludmila.