Pioneering treatment helps Mary-Ann speak again
A young Irish child suffering from a rare disease has spoken for the first time in four years - after undergoing cutting-edge treatment.
Mary-Ann Cleary (8) suffers with progressive dystonia, an extremely rare illness for children, which had become so severe that she could not move or speak.
The condition causes a painful seizing of muscles and left the young girl in such poor health that she was admitted to the intensive care unit (ICU) with "little hope left".
However, groundbreaking DNA research has managed to turn things around. Genomics, which provides a more complete picture for genetic research, found that Mary-Ann responded to a treatment called deep brain stimulation.
Despite being in the ICU in September 2017, Mary-Ann spoke her first word in four years last November, saying "mamma". Consultant neurologist at Temple Street Professor Mary King said genomics can pinpoint treatments tailored to the needs of different patients.
"We're delighted that Mary-Ann could be treated so successfully and so quickly thanks to genomics," she said.
"This new field can significantly reduce the patient journey, which for complicated or rare diseases can involve a number of lengthy, invasive tests, followed by a course of treatments which may have varying effectiveness."
Sean Ennis, co-founder of Genomics Medicine Ireland and director of UCD's academic centre on rare diseases, said the research usually takes far longer to bring results.