Up until the age of three, Isabel was just like any other little girl – a bright, lively child affectionately described as a whirlwind by her parents, Sophie and James. Little did they know the devastating diagnosis that would soon change everything for her and her family.
Isabel was born with no medical problems, reaching all the usual developmental milestones. “It was around Christmas when Isabel started to randomly have some funny turns, so we took her to have some routine tests,” explains Mum, Sophie. On Christmas Eve, a few days after her third birthday, the family were told that Isabel had epilepsy.
Four months later they received a phone call delivering the most unimaginable news. Isabel was diagnosed with Late Infantile Battens Disease. A genetic condition, Late Infantile Battens Disease is a life-limiting neuro-degenerative brain disease.
A particularly cruel disease, the symptoms develop rapidly with life expectancy just 6-10 years old. “You are told these things then looking at her you just can’t believe it,” explains Dad, James.
Whilst still struggling to come to terms with the devastating news about Isabel, the couple had an agonising three month wait to find out if their then, 8-week-old son, Theo, also had the genetic condition; the results came back negative. It was then that they were referred to Christopher’s. “We knew we needed to be able to get the support whilst she appeared to be well and able so that everything just became part of her life,” says Sophie. “We felt we had two choices, to face it…or not. I don’t think we could ever underestimate what having that support has done for us. I think if we hadn’t said yes to it we’d be in a very different place right now.”
“We brought her to Christopher’s early to try to get her involved in the activities and get to know people and I think that has helped her,” says James. Although Isabel suffers from dementia, she is cognitively very aware of what’s happening to her. While her short term memory is very poor, her long term memory is good – so it was very important for the family to create and cement memories and experiences early on.
Christopher’s has also been able to provide a chance for Isabel to have fun with her two younger brothers, Theo, 4, and Noah, 1. “Isabel loves swimming, but with the water being too cold at regular pools it became an issue for her as her muscles deteriorated,” explains Sophie, “so it’s great she can swim with her brothers – something so normal.”
The family also get the support of Hospice at Home. “Our Hospice at Home carer has come for two years and although Isabel doesn’t see her all the time, she still responds to her. That is such a breath of fresh air for us, for when you have someone who comes solely to dedicate their time to Isabel you feel that you can step back and spend time with the boys, knowing she’s with somebody who wants to give her their time.”
Within a year of Isabel’s diagnosis at three and a half years old, she needed to be tube fed, lost the ability to walk, the majority of her language skills and her seizures increased. By the end of 2016 she started to lose her sight. “Every skill she’s lost, she’s adapted,” says James.
Late Infantile Batten’s Disease means that any additional bout of illness from flu, colds and operations will speed up the progression of the disease. Only last November Isabel had a life-threatening chest infection. “You have to adapt; we never think in years anymore, we think in days so our main job is making memories and normality,” says Sophie.
“Isabel now needs so much care that 24 hours a day has become quite a lot to manage. If she’s at Christopher’s we can make the most of just being with her, not needing to worry about all the medical side of things. They give her the same level of care that we do; they really do want to look after her. They are incredible – you don’t get many people in the world that will take her and love her like we do.”
“The hospice gives us a sense of feeling normal,” says James. “When you’re out in the community you can feel isolated and separate from the rest of society but at Christopher’s you just feel normal, you don’t feel like an outsider. It is like an extended part of our family.”
“We come here and relax totally in the knowledge that this isn’t just about respite,” says Sophie, “this is about coming and having a sort of normalness in our life. As much as we know her life will end, the support from Shooting Star Children’s Hospices has meant that it’s been a lot easier for Isabel to manage – particularly emotionally.
“We’ve been on a bit of a journey with Isabel and learned so much from her. We’ve come to understand the importance of quality of life,” says Sophie; “and while her quality of life is still good, we will always fight for her and we’ve always said we’ll know when it’s not – we’ll know when she’s had enough. She fights and I don’t know how she does it; she has a super human level of positivity – when we’re all feeling down she’s just laughing and that’s what drives you. People say we’re brave, well, actually she’s the brave one and we draw so much strength from that.”
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