‘It was heartbreaking for us as a family to see Ava lose her smile’ - Norwich couple tell of toddler’s undiagnosed condition
11:50 05 April 2014
A Norwich couple have spoken of their heartbreak over their 20-month-old daughter’s undiagnosed condition – and urged people to support a fund-raising cycle ride to help pay for specialist treatment.
Ava Hall was just 17 weeks old when she started regressing in her development.
She lost her smile, stopped giggling and was no longer reaching the milestones expected of a child her age.
After three months of trying to convince health professionals there was something wrong with their daughter, Emma Brown and Andy Hall finally got an appointment for Ava to see a paediatrician.
“As soon as they met Ava they knew there was something seriously wrong with her,” said Emma.
“We thought she might be deaf and blind and her head control was all wobbly. She went through so many tests, including three lumbar punctures, but to this day they still haven’t labelled her with anything. It was heartbreaking for us as a family to see Ava lose her smile. She went off into her own world and we didn’t really feel as a family that we knew her.”
It was at this time that Ava started displaying uncontrolled movements, where her body would lunge forwards and her eyes would roll back in her head.
She was quickly sent for EEG tests and the results showed she suffered from a rare form of epilepsy called West Syndrome.
Just three days later Ava was put on medication for the condition – but she still has seizures on a daily basis.
The family still does not have a diagnosis or prognosis for Ava’s other health problems and are involved in genetic tests and a DDD (Deciphering Development Delay) study, which they hope will provide some answers.
“It’s possible she could die from the seizures she has,” said Emma.
“We have been given quite clear instructions about getting an ambulance straight away. We sort of know what the prognosis is because the hospice at Quidenham has taken us on board, and they deal with life-limited children.”
Emma and Andy, who have two other children, Keira, seven, and James, nine, would like Ava to see a specialist charity called Snowdrop for Brain Injured Children to help her reach her developmental milestones.
Based in Devon, it provides programmes of neurodevelopmental stimulation for children with a wide range of conditions and genetic disorders.
Ava already attends a number of sessions and appointments locally to support her development, as she has poor muscle control, cannot eat on her own and experts have said it is unlikely she is able to process what she sees and hears.
Friends have rallied round in support, with coffee mornings and charity runs being planned.
Emma’s colleague, Caril Gaul, contacted her nephew James Barker, a keen cyclist, to see if he could help raise money for Ava’s treatment.
James was so touched by her story that he set himself his greatest challenge to date – a 200-mile bike ride following a route that is significant to Ava.
On May 4, he will set off from the Norfolk and Norwich University Hospital, cycle to Quidenham, then on to Addenbrookes and then back to the Norfolk and Norwich Scope Association in the city’s Woodcock Road.
James hopes to complete the route in just 11 hours.
“You take your health for granted,” he said.
“I feel lucky to be healthy and fit enough to be in a position to help Ava. I have got a photo of her that I am going to stick on my handlebars, so when the ride gets tough I remember what a good cause I am doing it for.”
Money raised from the cycle ride will go to the Tree of Hope, which acts as a bank account for Ava.
Anything the family needs for her treatment, including taking part in the Snowdrop programme, can be paid for directly from the funds.
Emma said: “What James is doing is absolutely amazing. I don’t know how to thank him.”
To sponsor James and donate to Ava’s appeal, visit www.justgiving.com/Helping-Ava-Appeal1