Three-year-old Orla has CHARGE Syndrome, a genetic pattern of birth defects which occurs in one in every 10,000 births worldwide. Her family, mum Anna, dad Steve and little brother Sam, rely on Shooting Star Chase to give them a break from Orla’s complex care needs.
Because of her syndrome, Orla was born with a cleft lip and palate, and she is profoundly deaf and visually impaired. She uses a tracheostomy to help her breathe and is fed by a gastrostomy because she has trouble swallowing.
“Often with CHARGE Syndrome, children have heart conditions but Orla doesn’t, so she’s lucky here,” explains mum Anna. “She can hear some things because she has an auditory brain stem implant (ABI), which puts electrodes directly onto the brain stem, but it’s early days and they’re still tuning it up. She can hear loud sounds, but not enough for speech yet. But she’s brilliant with sign language. Another thing with CHARGE is the absence of semi-circular canals so Orla’s got no balance, and it also affects her proprioception of movement and spatial orientation. Despite this she has started walking, which is amazing really.”
Before Orla was born, Anna and Steve weren’t aware she’d have CHARGE Syndrome. “All we knew is that on the 20-week scan they saw a cleft lip and possibly palate, but everything else looked fine. When she was born she was fine, but after six minutes she went grey and the staff took her away from us. It was ages before they would let us go down and see her. Eventually they did and she was all tucked up in a blanket and had a breathing tube. I didn’t actually recognise that it was my baby. It was really strange.”
Doctors originally told Anna and Steve they thought Orla had a chromosome abnormality and wouldn’t survive. Thankfully tests results came back clear and at 2 weeks old Orla was diagnosed with CHARGE Syndrome.
“It was really terrifying. You have all these ideas of having a baby, although after finding out she had a cleft lip we knew the first year wouldn’t be straight forward, but that’s nothing like the thought of having a disabled child. You can’t really get your head round it. I remember when they said she is going to have a tracheostomy fitted and then in the same breath explained that means she would have to be supervised 24 hours a day. That was the point when I thought ‘oh my god’. That made me burst out crying.”
Orla spent nearly four months in hospital and when she was discharged the family were referred to Shooting Star Chase for regular support. “Initially the word hospice seemed like such a horrible word but I don’t see it like that now. We went for a tour of Shooting Star House and we were amazed. I always thought of a hospice as where adults go to die but it was just lovely. They had a big fish tank, there was tea and cake, we saw a music session going on, we saw the swimming pool and the bedrooms. It was amazing.”
One of the services the family benefitted from initially was Hospice at Home. “That was really good when Orla was little. I thought I’d feel really strange leaving her but because Shooting Star Chase provide qualified nurses I felt relaxed.”
Following the birth of their son, Sam, the family use Shooting Star House for short breaks both as a family and for Orla to enjoy on her own.
“When I say we’re going to Shooting Star Chase Orla gets really excited. She loves all the facilities. She loves the sensory room and the swimming pool. She has been on trips and she loves all the attention. There’s always people wanting to play and non-stop activities to do. The parents’ rooms upstairs are where we feel most relaxed. We know we’re near Orla if we need to see her but it feels separate and it’s really quiet. We love staying there as a family because it is so relaxing.
“One of our favourite times was when we stayed around Christmas and we took Orla swimming for the first time. Because of her tracheostomy I had been really scared about taking her swimming but the staff said children with tracheostomies regularly swim in the hospice’s pool and it would be fine. It was so good. The lights were on in the pool, we had music playing and because it’s a hydrotherapy pool it was really warm. Orla loved it and Sam was able to come too. That was a really, really good day.”
The family don’t know what to expect in the future but take each day as it comes. “CHARGE doesn’t always get worse, but there’s always stuff than can pop up. We hope she might gain some independence in the future but we don’t know what life is going to be like for her.
“Shooting Star Chase has made a massive difference to our family’s life because it has enabled us to do things a normal – I hate using that word – family would do. My parents live locally and are very willing to look after the children but they can’t look after Orla overnight because it’s too much. The fact we could go away for a weekend, as a couple, and Orla can stay at the hospice where she’s happy and we have no worries about her is amazing.”
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