The parents of a five-year-old girl born with a rare genetic disorder are hoping her story can raise awareness around the country.
Olivia Dawson, from Braintree, has Williams Syndrome, which can cause developmental delay, visual problems and heart disorders.
Olivia is well at the moment, despite a heart murmur, and she is considered high functioning on the scale of WS.
Diagnosed with Williams Syndrome at the age of three, the different challenges Olivia had struggled with, including being small at birth, a failure to thrive, not sleeping, falling over, mobility issues and developmental delay, suddenly made sense to her parents, Stacey and Elliot.
“I felt naïve,” says Stacey, 37.
“I didn’t realise there was anything seriously wrong. She was born full term and had a short umbilical cord, which I have since heard can be a sign of a genetic disorder. She was small, just 6lb 3oz and she struggled to breastfeed, so her weight dropped to 5lb 12oz.
“When we switched to a bottle, she slowly started to put weight on, but she was almost at the stage of failing to thrive. She also had a heart murmur, which we were told was nothing to worry about. I have a heart murmur too.
“Olivia cried constantly for the first six to seven months and didn’t sleep for the first year. She also had bad reflux and threw her milk up all the time. It was a very hard year. She didn’t meet her milestones on time but as a first-time mum I didn’t realise she was so delayed.”
“I googled Williams Syndrome that evening and went to pieces”
Although Olivia was slower than most babies to meet her milestones – such as sitting, rolling and crawling – she wasn’t drastically behind other children, which lead her parents and health visitor to think she would catch up in her own time.
Stacey added: “I remember at 16 months, Olivia was walking holding onto my hands. The health visitor said to watch for a few months and see how she gets on. By 19 months, she was walking on her own but she was unsteady even at the age of two and Elliot didn’t think she was walking right.
“She only had two-word sentences. She had poor muscle tone and was quite weak and floppy. She struggled to get down the stairs and had visual and spatial problems too. My sister’s son is a month younger than Olivia and I noticed he did everything much earlier than she did. She seemed around six months behind him.”
When Olivia was two-and-a-half, a visiting London cardiologist spotted facial characteristics of the genetic disorder Williams Syndrome during a routine heart check.
“He checked 95 per cent of her heart and then stopped and asked about her history and if she had any other appointments,” Stacey said.
“I explained she had physio and speech therapy and developmental delays. He asked about her facial features – she has big blue eyes and a turned-up nose. I thought she looked like her dad. He pieced together everything and he wrote to the paediatrician to consider Williams Syndrome and told me that would explain her developmental delay.
“I googled Williams Syndrome that evening and went to pieces. All I read was that 75 per cent of sufferers have heart problems, they won’t get married, won’t have kids, it was all very depressing and hard to take in.”
Olivia was referred to a geneticist who initially gave the family hope – she said she would be surprised if Olivia had Williams Syndrome as she was learning, developing and facially she looked like her dad.
Stacey, a part-time administrator, added: “The geneticist phoned us one evening and said she had got it wrong and Livvy does have WS. I was devastated. It was a bad time. I was seven months pregnant with my son Charlie, who’s now 18 months old and I didn’t know anything about WS.”
Williams Syndrome is a rare genetic disorder that occurs randomly and is not hereditary. It affects around one in 18,000 people in the UK and is caused by a deletion on Chromosome 7. Children often have delayed development and can develop physical and mental health problems, including anxiety and depression in later life.
All WS children tend to be talkative and excessively friendly towards adults and have distinctive facial characteristics.
After Olivia’s diagnosis, Stacey and Elliot, 32, a sales manager, contacted The Williams Syndrome Foundation, and are now helping to raise awareness of children’s genetic disorders with the UK children’s charity Genetic Disorders UK and their annual fundraising day, Jeans for Genes Day.
“We had a lot of support from the Foundation,” said Stacey.
“She is behind developmentally, but she works hard and her teachers love her.”
“They were fantastic. They provided information and support and a chance to meet other families with children with WS. That was a real turning point for us. I saw other children with WS growing up, a few even passing their driving tests and getting a job. I realised there is a spectrum of WS and all children are affected differently. It isn’t as devastating as I envisaged.
“Meanwhile, Livvy’s development was coming on leaps and bounds. Her speech was improving, her mobility was better and she wasn’t falling over as much. She still has low muscle tone and weak core strength but hydro-therapy helps. Her heart murmur is faint and right now isn’t a problem but this can change over time. No one can guarantee that any issues won’t arise as she gets older as sometimes heart problems can get worse as children get older.
“At school Olivia has one to one support as she has falls and needs extra help on play equipment, help with fine motor skills and going to the toilet. Her concentration is lower than her peers and she is behind developmentally, but she works hard and her teachers love her.
“I know the gap will widen between Olivia and her friends as they get older. It’s so rare a condition it’s really hard to know what will happen. Olivia needs a lot of guidance and help with socialising and interacting with other kids. She generally plays alongside, not with, other kids. She is not on the level of the other girls.
“Olivia has to learn how to do everything, she doesn’t just copy and pick things up like her little brother. She has to work hard at everything. She is making progress though – she can now sit down for carpet time and is progressing with her phonics and reading. She does have some sensory and anxiety issues and sensitive hearing to loud noises – there are some similarities with autism.”
Stacey has recently found meeting other families with WS through the Foundation to be invaluable and says she benefited from attending last year’s charity conference.
“I hope the Foundation can get future funding for similar events as support like this is so important to us and other families. It is so nice to make connections with others and for the children to interact with each other and make some real bonds of friendship.”
Monies raised on Jeans for Genes Day, September 22, fund the work of the charity and provide grants to organisations for projects that aim to transform the lives of children with genetic disorders.