A little girl has spoken for the first time in four years thanks to cutting-edge genomic research. Her first word was “mama”.
Mary-Ann Cleary, now aged eight, has progressive dystonia, a very rare disease that causes painful seizing of the muscles. In Mary-Ann’s case, the disease progressed to a point where she was unable to move or speak and had become critically ill.
Consultant neurologist at Temple Street Children’s University Hospital, Prof Mary King, said Mary-Ann first came with her parents from Britain for a second opinion in 2014.
The Irish life sciences company Genomics Medicine Ireland (GMI) together with the University College Dublin Academic Centre on Rare Diseases (AcoRD) became involved in the child’s case last year.
Prof King suspected that the girl had progressive dystonia and following genomic sequencing, a mutation in gene KMT2B was identified. The gene was discovered only eight months earlier and it is known that children with the condition respond well to deep brain stimulation.
Deep brain stimulation is a surgical procedure to implant a pacemaker-like device that sends electrical signals to brain areas responsible for body movement.
Prof King said they contacted the girl’s medical team in Britain last September. By then she was in intensive care and with little hope left.
In November, two months after undergoing deep brain stimulation, Mary-Ann spoke for the first time in four years.
Mary-Ann continues to do very well and today she is able to move around, speak, laugh and play.
Prof King said her case highlights the enormous potential in genomics for precision medical diagnostics and treatments.
“What is unusual about Mary-Ann is that she had a disorder which was only recently described. It is probably more common than we realise but the gene had only been discovered a few months earlier. We’re delighted that Mary-Ann could be treated so successfully and so quickly thanks to genomics. This new cutting-edge field can significantly reduce the patient journey, which for complicated or rare diseases can currently involve a number of lengthy, invasive tests, followed by a course of treatments which may have varying effectiveness.”
Genomics involves the study of a person’s genome, that is, their entire set of DNA and other non-coding elements of their genes, plus background and lifestyle factors. Prof King said they have been using genomics to diagnose and treat children since 2009: “The potential for genomics is that it can pinpoint diagnostics accurately and indicate treatments tailored to each patient, saving considerable time and money for both patient and hospital. Genomics really is the future of diagnostic medicine.”
Genomics Medicine Ireland is undertaking research into multiple sclerosis, inflammatory bowel disease and brain tumours in conjunction with hospitals across Ireland.
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