Meet Live, a 4-year-old girl with Rett syndrome who loves action

Live is a tender and cheerful 4-year-old girl. She’s diagnosed with Rett syndrome, but has a more atypical disease course, which means she cannot sit, stand or walk. Live makes good eye contact and has learned to use her eyes and facial expressions to communicate.

Live developed as expected until she was around 6 months, but Madeleine, Live’s mother, still felt that something was different. - I have experience from Live’s older sister, says Madeleine. It was that experience that made her feel that there was something special about Live, but the doctors reassured her that there was nothing to worry about since Live made such good eye contact and developed as expected.

From the age of 6 months, however, Live began to lose skills, and at Christmas time when she was 7 months old, they suddenly needed to support her head when she was held. - Then I knew that something was seriously wrong, says Madeleine. It was also around that time that she had her first respiratory arrest, and a full medical examination was initiated. When Live was 10 months old, she was diagnosed with Rett Syndrome. She has a more atypical disease course and more complex disease picture than is typical for the syndrome.