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Bassingbourn mum speaks out about teenage daughter’s genetic condition to raise awareness

Royston Crow News Article

Image: image_medium.jpgA Bassingbourn mum of a teenager with a genetic disorder has spoken about the difficulties lack of awareness of her conditions brings, in the run-up to the nationwide Jeans for Genes Day.


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Cerys Hennighan has 22q11.2 deletion syndrome – known as 22q – which causes a host of ongoing physical and emotional health problems for the 16-year-old.

Tracey and her husband Gareth, 50, then living in Royston were overjoyed when they were told they were expecting a baby.

At the 20-week scan they were told there was a problem with little Cerys' kidneys and that she had club foot.

The 45-year-old said: 'I was concerned, but every time I went for a scan I was told she was OK. Then the fluid around the baby kept increasing, a condition called polyhydramnios, which I since found out can be a sign of a genetic disorder.'

'Cerys was delivered by emergency caesarean at the Rosie Hospital in Cambridge, and the umbilical cord had been wrapped around her abdomen.

'I didn't get a chance to kiss or hold her, she was taken straight to the Neonatal Intensive Care Unit.

'All I had was a polaroid picture of her, it was a really distressing time. I suffered complications from the birth as well so Gareth was going between me and Cerys seeing if we were both OK.'

When they were well enough to go home, nursery nurse Tracey said she was called 'a neurotic mother' for more than four years while she told doctors of Cerys' symptoms.

She had developmental delay – highlighted further when brother Ryan – 20 months Cerys' junior, began overtaking her – speech problems, an appearance characteristic of 22q among other markers.

Cerys was finally diagnosed with the chromosone disorder aged four, after seeing a new doctor who diagnosed a cleft palate – another sign of the condition – and then finally being referred to a 22q clinic at Great Ormond Street Hospital in London.

She has the most frequently occuring chromosome disorder – a microdeletion of the long 'q' arm of chromosome 22.

On life now, Tracey said: 'If we have a healthy week, it's a good week. Cerys has malrotated bowel, immunity problems, sleep difficulties and social and emotional difficulties, she also uses a wheelchair when she needs to.

'From a young age Cerys had low self esteem, she knows she's ill aand has go to to hospital a lot. She knows that she has this genetic condition and that it's the reason she has these diffculties.

'She's in alternative education because when she had to do her GCSEs at school she had a mental breakdown, she completely withdrew and wouldn't come out of her room.

'The reason we moved to Bassingbourn five years ago was so we could get a house big enough to convert a garage or build an extension because Cerys will have to live with us forever, she needs that care and can't live on her own.

'Cerys and I have a really close bond, she loves her dad and her and her brother are normal siblings really.'

'She goes horseriding in Elstree, because that's the nearest Riding for the Disabled Association centre we could find, and she loves it. she goes once per week.'

The family have also had support from the Max Appeal – which supports families of those with 22q and other genetic disorders – since Cerys was diagnosed.

This year the charity will receive a grant from funds raised on Jeans for Genes Day for a children and young people's activity weekend.

Tracey said the family has experienced ignorance about her daughter's disability, especially around her behaviour – Cerys' mental age is around four years younger than her age, she has short term memory problems and some aspects of her condition present like Asperger's Syndrome and ADHD.

'22q affects more people than Down's Syndrome but hardly anyone knows about it – there should be a global campaign,' she said.

'I wish there was more understanding out there, and I want people to remember however people seem, you can't see what's going on inside.

'We do get looks from people out and about, because she looks like she hasn't got a disabilty.

'Even in the NHS if we see a junior doctor I ask if they've heard of 22q, because they just don't know how to treat Cerys.

'I want everyone, whether it be people on the street or doctors, to have an understanding of genetic conditions – because it is so important for families like us dealing with this every day.'

Jeans for Genes Day is on Friday, September 22, and promotes awareness and fundraising by inviting everyone to wear their jeans to work or school and make a donation. For more information, or to sign up for a fundraising pack, see www.jeansforgenesday.org.