It is a moment that every expectant mother can’t wait to enjoy – a first cuddle with their newborn baby. But for mum of 3 Karen Tilley, that moment of joy turned into a ‘constant rollercoaster of emotions’ when her daughter Josselin was diagnosed with a life-limiting illness.
Karen, 43, had a normal pregnancy with Josselin until one day she attended an antenatal check where concerns were raised that her baby had a slow heart rate. "One minute I was in an antenatal check-up and the next I was being rushed to hospital because they wanted to monitor Joss’s heart rate," said Karen.
On arriving at the Royal United Hospital (RUH) in Bath, Karen was quickly whisked away by the medical team. "As soon as I arrived they decided I needed to have an urgent caesarean section. They literally cut my clothes off, put me to sleep and operated. When I woke up, they told me I had given birth to a baby girl and that she had to be resuscitated and was in the NeoNatal Intensive Care Unit (NICU)."
After a few hours, Karen finally got to hold her newborn baby. "It was a wonderful moment, and everything seemed fine. Josselin was drowsy, but the medical team said that was down to the anaesthetic. I was discharged and took her home thinking I had a completely healthy child."
Mum and baby returned to their home in Westbury, Wiltshire and life continued as normal. But concerns were soon raised about Josselin’s progress at Karen’s midwife check-ups.
"Josselin was struggling to feed and wasn’t thriving," said Karen. "We went back to hospital a couple of times, but the issues were initially put down to her traumatic delivery." Josselin then failed her routine 8 week hearing test which revealed she was profoundly deaf.
Further checks in the coming months also revealed that Josselin’s vision was also severely impaired and she was registered blind. She was also struggling to swallow and fitted with a feeding tube.
Wanting to find the cause of her problems, medics referred Josselin to a genetics specialist suspecting she may be suffering with Charge Syndrome. Bloods were taken and sent to a specialist laboratory in Amsterdam for testing.
It was not until Josselin was 20 months old that she was diagnosed with the condition.
"By that point she had been very poorly," said Karen. "She had been in hospital a few times, was being ventilated at home and had been in NICU."
We knew that Charge Syndrome could leave her severely disabled and that the condition affects different children in different ways. We did not know how or where it would go. But in a strange way, it was a relief to finally have a diagnosis.
During her childhood Josselin, who is confined to a wheelchair, has enjoyed spells of being well followed by periods where her condition leaves her bed bound. She has endured 36 surgical procedures including an operation on her stomach and had a cochlear implant fitted. She also has a cardiac pacemaker and has recently been diagnosed with epilepsy.
"It’s been a constant rollercoaster of emotions," said Karen. "And at times it’s been very, very scary. On a good day Joss is happy and she can shuffle around on her bum to get about. She loves her toys and, thanks to limited vision in one eye, can chose what she wants to play with. She really enjoys going out and about and loves swimming. Joss has a strong personality and can be quite stubborn and incredibly funny."
"On her good days we go out and about, but when she’s poorly she can spend days in bed." Josselin, who needs round the clock hour care and attends a specialist school near her home, was referred to Children’s Hospice South West when she was 20 months old. The hospice, Karen says, has been a continued and constant source of support and love for the family.
The family, including Josselin’s brother Dalton, enjoy regular stays at Charlton Farm.
On our first stay, I didn’t know what to do. No one has ever taken over the care of Joss completely for me before. Going to Charlton Farm is the only time I can have a proper rest. It’s the simple things like having a lay in, going to bed early or reading a book while knowing Joss is being completely cared for.
Dalton, 12, is also always keen to visit Charlton Farm, spending time with the Siblings Team. "The hospice is a home from home for Dalton. He is autistic and suffers with a high level of anxiety and there are only certain places he will happily go, the hospice being one of them."
"Charlton Farm is a familiar and comfortable place for him and he always looks forward to visiting. When he is there he gets the opportunity to do things he may not at home and the attention is on him. There was one day where the Siblings Team was playing football with him for three hours"
Karen, who works at Center Parks in Longleat, Wiltshire as a housekeeper, looks forward to her stays at Charlton Farm every few months.
"I arrive completely exhausted and bedraggled," she said. "The hospice gives me that time to put myself back together a bit. It allows me to do what everyone else just does – whether that’s sitting in the garden or just nipping out."
"At home Joss’s care is my main focus and pretty much everything revolves around Joss’s needs." Karen’s journey with Josselin, now 18, has also prompted her to write a book - Josselin’s Adventures with Charge Syndrome. The book charts her daughter’s journey, including her first visit to Charlton Farm, and was published last year.
Initially I was writing what happened each day as a sort of journal. The more I wrote, the more I wanted it to be about recording all the fabulous memories we have made. The first 2 years of her life felt so bleak. I just couldn’t see a future or a life for her, but now I look back and see everything has been alright. It’s just different.
Josselin’s Adventure with Charge Syndrome can be found on Amazon.