Evie's story - Jeans for Genes

Evie's story

Nine-year-old Evie was born with the rare genetic condition Cri du Chat syndrome. She has no speech, low muscle tone and her developmental progression is that of a 9–12-month-old baby. Evie needs round-the-clock care and, like many children with Cri du Chat syndrome, she has distinct facial characteristics which include very delicate features, elfin-like, with low-set ears.

When Evie was born, her cry was distinctive, unlike that of any other baby on the maternity ward. For her mum Lisa, 40, it was a kitten-like cry she had heard of before in her work as an occupational therapist.

‘Her cry was just like a kitten. She looked different, she was only 6lb and her cry was so different from the cries of other babies on the ward.’

Over the next few weeks Lisa, from Braintree in Essex, noticed that Evie was not responding like other newborns. Her fists were always clasped, she wasn’t alert and she wasn’t feeding well. She also had clubbed feet. Although midwives were reassuring, Lisa and Evie’s father, Darren, both gradually realised something wasn’t right.

As Evie failed to develop, the family were eventually referred to a geneticist and she was diagnosed with Cri du Chat syndrome – which literally means ‘cat’s cry’ – at seven months old. As Evie got older her problems and needs became more evident. Now aged nine she is at the developmental age of a 9–12-month-old baby and will need care for the rest of her life.

‘Alongside the genetic condition Evie has severe scoliosis, so she has to wear a Lycra suit to protect her back. She has reflux sickness, constipation, incontinence, hearing problems and no speech at all. She has balance and co-ordination problems. She still can’t walk unaided and can’t hold a pencil or use a spoon independently as she can’t grip with her fingers. She also has autism, which is common in children with Cri du Chat.’

From the age of five Evie started to respond and use gestures to communicate with her mum. Her development has been helped by attending a special needs school, where she loves trampolining, going in a hydro pool and socialising with other children and staff.

‘She is a very loving little girl. She has a kind nature and has worked so hard at her physio and speech therapy. I am really proud of her determination, and she always surprises me with her achievements – her most recent one is to climb the stairs, which I never thought she would do.’

Evie attends PARC Essex respite sessions in the holidays and at weekends, which gives Lisa a break. ‘The carers at PARC are very good and Evie gets so excited going there. She giggles, flaps her hands and laughs. It’s brilliant to see.’