Rosie’s parents noticed that she trembled, much like her big brother Tom, from birth. They anxiously watched her development and saw many similar delays to those her brother had encountered. Like Tom, she struggled with her motor skills and would easily trip over. While Rosie’s spoken language developed well, she struggled with her receptive language and found learning difficult. However, like Tom, it was the tremor that concerned them the most, as her little arms and hands would tremble whenever she tried to do anything.

When Rosie’s big brother Tom had his whole genome sequenced, it was suggested that Rosie be tested too. Fourteen months later, the family received the news that both of their children carried a pathogenic DHDDS gene mutation.