Four-year-old Isla has an illness so rare that she may be the only child in the world with the condition.
Isla Kilpatrick-Screaton was diagnosed with Mandibuloacral Dysplasia, a condition that causes a variety of abnormalities involving bone development and skin colouring. She also has a heart condition and very narrow airways, which resulted in her having a tracheostomy. Because of this, Isla is unable to speak but she tries her hardest and excels at signing.
Isla’s genetic consultant has told her parents, Stacey and Kyle, that her genetic misspelling means she is the only child in the world recorded with this condition. Isla is being studied by many consultants and is paving the way as a case study for children in the future.
Stacey and Kyle’s journey began within minutes of Isla being born. Medics feared Isla had Sepsis. “We didn’t even get to hold her,” said Kyle. “She was put on Stacey’s chest for less than 30 seconds and then taken away. Everything changed and I knew something was very wrong. It felt like we were sat watching something on TV, not something that was actually happening to us.”
Stacey also relived the nightmare. “It took hours before she was stabilised and we could see her, we were distraught,” she said. “There were just leads coming from everywhere. All this equipment on such a tiny baby. On her first night, we nearly lost her and they had to put her in a coma as her body was trying to shut down.”
Isla fought hard and a month later, she was allowed home but terrifyingly, when she was distressed, her tongue would fall back and cover her airway and Isla would turn blue.
After a scary episode where she was resuscitated at hospital, Isla was fitted with a tracheostomy at 10-weeks-old. “We had gone from having a baby that cried all the time because she couldn’t breathe and then we couldn't hear her cry at all,” said Stacey. “It was heart-breaking.”
The couple admit they found life difficult, especially trying to absorb all of the medical knowledge needed to keep their daughter alive while trying to devote time to their now eight-year-old daughter, Paige.
“Paige has been incredible,” said Kyle. “When we almost lost Isla, I remember thinking how am I going to tell a five-year-old that her sister had gone to heaven? When Isla was in the incubator and covered in wires and tubes, we told Paige that her sister was in a special spaceship. But when she saw her, she didn’t see any of that. She just saw her sister and that was it. She coped better than us.”
In 2018, the family were referred to Rainbows, a place Stacey and Kyle describe as a lifeline.
“Rainbows will always have a special place in our hearts,” said Stacey. “Meeting other families who are in similar situations has made us feel really comfortable. No one asks questions and both our girls are made to feel really special.
“Paige misses out on a lot as our time is taken up with Isla. But at Rainbows, it is just as much about her as her sister. And going forwards, Paige will get involved with the sibling activities at Rainbows and she cannot wait.
“Isla is very expressive and has such a big personality. If we put a challenge in front of her, she can do it. She is amazing and she is very happy. Her and Paige have the most fantastic relationship. And I wouldn’t change things for the world.”
Stacey describes the family’s first weekend stay at Rainbows as “magical”. She added: “Paige was so excited to be able to go swimming with Isla. We used the hydrotherapy pool twice and it was the highlight of the weekend for all of us.
“For me, one of the amazing things about Rainbows is the safe environment. Being able to watch these two girls that are able to play together with no limits or worries. Isla loved the independence of it. All of the staff were brilliant. I can’t emphasise that enough.”
Kyle added: “It is a privilege to come to Rainbows and meet everyone. Rainbows has changed our lives. The girls love it so much and the hardest thing about Rainbows is leaving.
“We don’t know about her future. No one can tell us anything as they haven’t come across this condition before. Everything is a maybe. It can feel really lonely but we just have to make the most of every moment and Rainbows really helps us to do that.”