Family bond is in the genes

Laura and Gavin Marshall and their children Lydia and Rhys

When Laura Marshall fell pregnant with her second child, she had no idea she was at risk of passing on a genetic disorder. Laura and husband Gavin, 33, had a healthy son Rhys, now four, and didn’t expect their second child to be any different.

Laura was born with Cloverleaf Skull, a form of craniosynostosis, which causes an unusually formed head due to fusing of the sutures in the skull. She had many operations during her childhood to release the pressure in her skull.

However, Laura was the only member of her family to have Cloverleaf Skull, her brother did not have the condition and she never knew it could be inherited. Parents with craniosynostosis have a 50:50 chance of passing the gene onto a child, however the odds are not known for Laura’s specific disorder as the gene mutation has not yet been identified.

“As a family it wasn’t made too big a deal of. I had a lot of operations but other than that I tried to live a normal life. As a family we almost ignored it,” says Laura, 33, from Doncaster.

“Despite not knowing that it was a genetic condition it was always in the back of my mind that it could be a problem having children. I wondered what the future would hold when I had a family, but then Rhys was born and he was unaffected, and I didn’t know it was genetic.” Laura fell pregnant again and the first sign that there was something amiss came at her 20-week scan when doctors noticed her baby’s head shape was abnormal.

“I felt terrible guilt. I had coped well with the hospitals and operations as a child but growing up looking different from other children is hard.

“Gavin and I considered a termination. What was going through my mind was that if it could be screened for before the pregnancy then we could choose a baby that we knew didn’t have it at an embryo stage. The difficulty with that is that it is like saying there is something wrong with me. It raised a lot of very difficult issues. That was the lowest point for me. Finding out our baby had the condition and deciding what to do.

“Gavin is a really easy going and happy bloke. He told me ‘you are like this and I love you, why shouldn’t our daughter be like you?’

“Once we had decided to go ahead with the pregnancy I was ready to cope.”

Lydia was born in April 2012 in a planned caesarean in Oxford so that specialist paediatricians were available for her care. She had a Cloverleaf Skull.

It was thought she would need immediate skull surgery but this was held off until she was four weeks old. This surgery completely removed the back of her skull, to allow space for it to grow. Further operations have followed.

As well as the shape of her skull, she was developmentally slower to crawl. She also has a slight shortening of the upper arms and upper thighs.

“I feel closer to Lydia because of the bond we  share. Whether or not she will resent me in the future, time will tell. My role now is to be a good role model for her. It shouldn’t stop you from leading a normal life.”

Jeans for Genes Day takes place on Friday.

Jeans for Genes day raises awareness

The Marshalls have had support from the charity Headlines which will benefit from a Jeans for Genes Day grant this year. Headlines has put Laura in touch with other families living with similar conditions. The grant will fund a children’s book introducing the procedures children will be undergoing throughout their treatment. Laura says: “Jeans for Genes Day is so important. It’s vital that we raise awareness of genetic disorders so people can understand why these things have happened. I’d like to break down the stigma that exists around people who look a bit different.”