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. Children with Cri du Chat syndrome also often have distinct facial characteristics which include very delicate features, elfin like, with low set ears. Evie loves trampolining, socialising with friends and going in a hydrotherapy pool.
Evie’s newborn cry was distinctive, unlike any other baby on the maternity ward. For her mum Lisa Bowden, 40, it was a kitten-like cry she had heard of before in her work as an occupational therapist.
“Her cry was just a like a kitten,” recalls Lisa. “She looked different, she was only 6lb and her cry was so different to the other babies.”
Over the next few weeks Lisa, from Braintree, Essex, noticed that Evie was not responding like other newborns.
She says: “Her fists were always clasped; she wasn’t alert and wasn’t feeding well. I would syringe feed her an ounce of milk every hour. By one-month-old her weight was 5lb 10 and she wasn’t alert. There was no first smile at six weeks old. I could tell she looked different too. Facially, she had very delicate features, elfin like, and her ears were low. She had clubbed feet too.”
Although midwives were reassuring, Lisa and Evie’s father Darren, both gradually realised something wasn’t right.
It was when Evie was four months old that the physiotherapist she had been seeing for her club feet asked about her daughter’s general development. By then she was not engaging with people, was floppy, had low muscle tone and still wasn’t feeding well.
After a referral to a geneticist the family finally got a diagnosis when Evie was seven months old. She had Cri du Chat Syndrome, which literally means ‘cat’s cry syndrome’. It is a rare genetic condition, caused by a missing piece of chromosome 5, and affects 1 in 37,000 to 50,000 newborns. Cri du Chat is usually not inherited, and as in Evie’s case this missing part of the chromosome is a random event in the early formations of reproductive cells.
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.
Lisa explains: “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.
“She needs almost 24 hour attention. I can’t leave her at all. She will find something dangerous to do and put herself at risk. She chokes very easily so you have to watch her eating and she puts anything in her mouth. As she gets older it is difficult carrying her downstairs as she is not co-operative and won’t hold on to me. I can feel exhausted an hour after I wake up.”
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.
“I started to see her personality shining through,” says Lisa. “I was getting something back as far as communication and I could get to know the person she was. There was a time when I would have taken away the Cri du Chat at any cost, but now I wouldn’t. I love her for who she is. She has a lot to say in her own way. If she didn’t have it she wouldn’t be my daughter.”
She adds: “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. She loves to be in water, likes anything physical such as bouncing or trampolining and likes to cuddle up on my lap.”
Evie attends PARC Essex respite sessions in the holidays and at weekends, a beneficiary of a Jeans for Genes Day grant this year.
Lisa explains: “PARC offers a real break for me to get other things done, including housework so that our house is clean and safe for Evie. Without PARC’s brilliant care I would find the school holidays exhausting and Evie would get bored and frustrated. 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.”