Throughout the first months of her life, it was clear Sophia was not meeting developmental milestones and by her first birthday, she was still unable to sit up by herself and her head control remained poor. Doctors could not identify the immediate cause, even when Sophia was taken for an MRI scan and she was transferred for genetic testing. It was only then, she was diagnosed with an extremely rare gene mutation, known as GNA01. As a neurological illness, its symptoms range widely and whilst Sophia’s development was clearly delayed, few other health issues were apparent.

At the tender age of four, Sophia was suddenly struck by a series of involuntary movement episodes. These ‘episodes’, known as chorea ‘storms’, cause each of Sophia’s limbs to move independently, as if she is running and at one stage the storms were so severe Sophia was left exhausted and barely conscious. With the family terrified and, without any way to stop Sophia’s movement storm, Sophia was taken to intensive care and placed in an induced coma.

Sophia is now eight years old and has been fitted with both a gastric-tube and a deep-brain-stimulating device along with prescribed numerous medications to try and manage her illness. Yet any minor change in her every day life has the potential to trigger new storms of involuntary movements.  Her Mother Sima told us: “We try not to look backwards, only forwards but a storm can occur at any time, and this makes keeping Sophia stable very difficult”.

Despite Sophia’s unpredictable and complex illness, she is a happy little girl with a slapstick sense of humour and as Sima explains: “She wakes up smiling even if she has battled through a storm episode the night before”.

Sophia needs specialist seating to keep her correctly supported. Following a consultation with a physiotherapist, it was suggested that a P-Pod would be the best option for her care to keep her safe and comfortable no matter whether she was stable or in the middle of a movement storm. Having learnt the local authority could not assist, React was suggested as a chance to acquire the P-Pod and we were delighted to step in. Sima said: “I am amazed by how quickly React came through to help and it means so much. Words cannot really describe how this has changed things for Sophia and our whole family has remarked how happy and comfortable she looks sitting in the P-Pod”.