Jessica Newell has Leigh Syndrome, a mitochondrial disease that means her cells are dying because they have insufficient energy to keep functioning. Although sadly not an uncommon syndrome, its symptoms vary hugely because the way it affects children is determined by the pattern of damage to the brain. In Jessica’s case anything muscular – such as swallowing, standing, speaking – is compromised, although her major organs remain unaffected. She lives at home in High Wycombe with mum Vicky and dad Keith. In December 2016 she celebrated her third birthday and in the spring of 2017 she welcomed her baby brother, James. Vicky explains how the Nurses from Rennie Grove’s Children’s Hospice at Home Team help the whole family…
“Quite early on I had a sense something wasn’t right. Jessica was one of the oldest in her NCT group and seeing other little ones starting to roll and grab I began to wonder.
“We took her to a paediatrician because we were worried she wasn’t meeting milestones like her peers. The doctor carried out tests and agreed that she was a little behind in some areas but reassured us there was nothing to worry about.
“She was about five months old at this point and I remember she caught a terrible cold. It really seemed to knock her for six. She screamed almost solidly for two weeks – she seemed so distressed. We couldn’t get her attention any more and were starting to feel really worried. She was floppy and unresponsive – unable to sit up or support her weight at all. So we took her back to the paediatrician.
“She’s retired now and has since said to me that the regression she witnessed in Jessica in those two weeks was the biggest she had ever seen in her career. She referred us for MRI scans and other tests and we soon had the diagnosis of this genetic condition that neither of us knew anything about.
“We didn’t know exactly how it would affect her in the long-term – but the prognosis meant she would be unable to talk, stand or even swallow. When you’re plummeted into a situation like that – you feel utterly panic-stricken. You don’t know what help is available; you don’t know what the future might hold. I remember the day after the diagnosis we bought a video camera because we were desperate to capture every little thing about our precious Jessica in case the worst case scenario was just round the corner.
“We were referred to the Children’s Service and our guardian angel appeared”
“We were referred to the Children’s Service and our guardian angel appeared. One of the charity’s specialist Children’s Nurses, Liz, became the lynchpin to all our care and support –She would make phone calls to doctors and paediatricians on our behalf; arrange for specialist equipment like a standing frame, suction machine and hospital bed; she accompanied us to hospital appointments and to meetings with Continuing Care, determined to ensure that we could access all the support we needed. Thanks to her persistence, we now have three nights of care each week, plus two afternoons of nursing care funded by local government.
“This extra support, put in place by the nurses, has been so helpful because it enabled me and Keith to get some sleep at a really difficult time. When Jessica was just nine months old, she was lying on her back and was violently sick. At that stage she had even less movement and muscular control than she has now (thanks to regular physio) so she couldn’t move her head and she aspirated: breathing the vomit into her lungs. We were blue-lighted to the John Radcliffe where Jessica remained in intensive care for several weeks. We were very lucky not to lose her – and she came out of intensive care a different, stronger baby. I don’t know if being on life support gave her body time to heal and re-charge but she went from strength to strength. The same could not be said for us – we were on tenterhooks at night so having the care package in place gave us some respite and a chance to sleep. It’s still important now. Whilst Jessica has greater mobility now and is therefore at less risk of aspirating, she has developed epilepsy too and has night seizures. Although not life-threatening at the moment, her seizures drain her of energy and she has so little of that to spare because of her underlying condition. The care package – plus the knowledge that we can call out a Nurse at any time of the day or night – gives us huge peace of mind.”
As well as providing specialist care for Jessica, emotional and practical support for Vicky and Keith and expert advice to other healthcare professionals involved in her care, the nurses repeatedly went above and beyond the call of duty. Jessica now has a PEG fitted: a tube that allows food and water straight into her stomach. But previously her only source of food and water was through a tube than had to be fed through her nose and throat and down into her stomach. It was stuck to her face to hold it in place but like any curious toddler, Jessica would often pull it out.
“At first that would mean an urgent trip to hospital for it to be replaced,” explained Vicky, “until Liz said she could teach us how to replace it ourselves. She could see we were daunted by the prospect to say the least. But Liz and the team taught us and supported us to learn and gain confidence.
Soon Jessica will have her PEG removed and in its place have a button fitted that can be easily changed at home, rather than needing a hospital trip to clean the tube every few months. “Everything is set up to help Jessica live well at home, surrounded by her family,” says Vicky. “And Liz and her colleagues from Rennie Grove have been hugely instrumental in ensuring this could happen.”
Jessica attends a special play group that caters for her individual needs and provides her with an important chance to socialise. “She’s a great observer,” says Vicky. “She gets as much pleasure from watching other people as she does from doing something herself.” Always working on ways to improve her fine motor skills and communication, her mum and dad have recorded snippets of a favourite refrain from her books so that she can press a switch to continue the story. They are about to trial an eye gaze system using a laptop screen linked to a camera that will help Jessica play and learn more independently. “We need to build an evidence base to secure funding for it. If she could have one permanently she could take it with her when she starts school,” says Vicky.
At home, Jessica is not unlike any other toddler in some ways: giggling, negotiating, reading, playing and watching TV. But her parents know she’s never going to be an average 3 ½ year old. Vicky says: “All I want is that she is stretched, challenged, happy and stimulated, with the opportunity to use her skills and to be involved with others, learning social skills and independence. In her life there will always be lots of people working alongside her so it’s important that she feels comfortable with that.”
“the nurses have given us the confidence and the expertise to make the most of every minute”
Vicky and Keith find it slightly easier to relax and enjoy each day with their daughter now; gone are the days when they yearned to catch every single second on camera in case it was her last. “We know what her condition could mean; her brain could suddenly stop telling her body to breathe,” admits Vicky, “but we need to give her a life that’s as ‘normal’ – and as special – as possible. The nurses helped us set up letters from our doctor so that we’ll be prepared should we need to access a hospital away from home.” The family are just back from a three-week road trip from Cornwall to Scotland visiting friends, family and favourite places en route. “the nurses have given us the confidence and the expertise to make the most of every minute,” says Vicky, “that’s a priceless gift.”