When Sophie Jenner from Snodland was born nine years ago, her parents knew straightaway that something wasn’t right.
“Her tiny body was floppy; she didn’t cry and barely woke for food,” remembers her Mum, Louise.
Then Sophie began having seizures and had to be put on a ventilator in intensive care. Then, at just ten days old, her parents – Louise and Danny - were given the devastating news that their baby girl had non-ketotic hyperglycinemia – a rare and incurable metabolic condition that meant it was unlikely she’d reach adulthood.
“When we found out how serious her condition was, we were in shock,” says Louise. “There was nothing that we could do to make her better. Our only heartbreaking option was to turn off the ventilator. But our little fighter defied the odds and she is now nine years old.”
Sophie is unable to metabolise the glycine in her body and, as a result, is totally brain damaged. She can’t communicate and has several seizures every day.
“As parents, we just have to try and keep her as comfortable and hopefully seizure-free as possible,” says Louise. “With the help of ellenor this is possible. Helen, our ellenor specialist palliative care nurse, has been absolutely fantastic -I don’t know what we would have done without her. She is always at the end of the phone if I need her and she has been so brilliant in helping us to arrange specialist appointments and transport when needed.”
Louise says that when Sophie is unwell, she calls Helen – which often prevents a visit to hospital.
“Helen gives me the reassurance and confidence that I am giving Sophie the best possible care,” says Louise.
In addition to supporting Louise and Danny in caring for Sophie, Louise has also utilised counselling from the charity, while Sophie’s younger brothers, seven-year-old Noah and three-year-old Joshua are also cared for by ellenor.
Until starting pre-school full-time recently, Joshua attended ellenor’s Friday Fun Club for two years, while Noah has benefitted from both play therapy and music therapy.
“When he was smaller, Noah knew that Sophie was different from him, but often got angry and frustrated,” says Louise. “The music therapy helped him to express himself and work through his emotions.”
The ellenor respite nursery nurses also look after the children each week to give Louise time to get on with the every day tasks and chores that need doing.
Sophie is one of 500 cases in the world and Louise says the family don’t know what the future will bring.
“We just need to make sure Sophie gets the best quality of life as possible,” says Louise.
Helen has helped the family to agree an advanced care plan, which sets out what should happen if Sophie takes a turn for the worse.
“At the end of Sophie's life we would like to spend as much time as possible in familiar surroundings and we know that the ellenor team will help us spend those last moments with her as we want,” says Louise. “We know that circumstances will be out of our control but at least we know that ellenor will be there to hold our hand, whatever happens.”