Since 2017, Genuity Science and CHI at Temple Street have been working together to identify rare and ultra-rare conditions in children with previously undiagnosed disorders. Mary Ann Cleary was referred to the rare disease programme in 2017 by her consultant Prof Mary King (consultant neurologist at CHI at Temple Street). Mary Ann was 8 years […]
When baby Jack (not participant’s real name and picture) was handed to his mum, he was the perfect baby. But in the months following his birth Jack’s parents and doctors became concerned when he did not meet his developmental milestones like other babies. He had trouble holding up his head or sitting upright without assistance. […]
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