Ashley and Liam Wilkie say they wouldn’t hesitate to take the place of their daughter if they could.
Caitlin, 8, is one of just seven Scots youngsters suffering from Bardet-Biedl Syndrome (BBS), which threatens to take her sight before her teenage years.
The little-known genetic condition which affects approximately 1 in 100,000 babies born, impacts many parts of the body.
Its effects can include vision loss, additional fingers and toes, learning disabilities, obesity and kidney and heart failure.
How was Caitlin diagnosed with rare condition?
When did the Kirriemuir couple, who are also parents to Niamh, 6, realise that something was wrong with Caitlin?
Ashley, who gave birth to Catlin in December 2014, said: “I had had a completely normal pregnancy, no abnormalities detected at all.
“And then Caitlin arrived and she was born with six fingers and six toes, which hadn’t been picked up at all throughout the pregnancy.”
Despite rigorous genetic testing, doctors couldn’t find anything wrong with Caitlin.
The family returned home.
“Then at around 14 months we noticed that she wasn’t doing what her peers were doing.
“They were babbling and had some words, whereas Caitlin had very little in the speech department.
“She could sit up, but she wasn’t crawling at that stage.”
Ashley, 44, and Liam, 39, contacted Ninewells Hospital, who took further gene samples and sent them to a specialised lab at Great Ormond Street Hospital for Children in London.
The couple received the shock diagnosis for BBS in 2017, when Caitlin was just two years old.
Ashley, an associate director at Thrums Vets, said: “We hadn’t heard of it before. It is extremely rare.
“At that time there were only about 500 people in the UK who had the condition.
“The diagnosis was extremely heart-breaking and the more you read about the syndrome, it’s always been a difficult one to comprehend.
“But slowly you learn to accept that there is a diagnosis there and part of you becomes thankful that you have a diagnosis as well because you then know what you’re dealing with and you know what it may or may not throw at you further on.
“This is the card she has been gifted and it’s about making the very best of it with the vision that she has and making as many memories as we can with her at this stage.”
Symptoms of BBS include vision loss, obesity and learning disabilities
Caitlin’s main symptoms are vision loss, difficulty with her weight and learning disabilities.
Most people with BBS completely lose their sight in their teens or early adulthood.
Although Caitlin can still see in daylight, she struggles at night.
Ashley said: “She obviously doesn’t like the dark – it is scary for her when she can’t see.
“She goes around putting the lights on as soon as she is up, so our house is often lit up like Blackpool illuminations.”
The family are now receiving support from Guide Dogs Scotland in a bid to make life easier for Caitlin, who keeps a light on in her room during the night and wears glasses.
Caitlin, like so many others with BBS, also struggles with an increased appetite, which can cause weight gain.
Ashley said: “The early days were difficult. We knew she was hungry and quite a lot of the time we would get meltdowns from her if she wasn’t getting food
“But as she has gotten older we have tried to teach her about healthy eating so she can make the right choices going forward.
“The dietician we see at Great Ormond Street Hospital keeps us right.
“We fill her plate with lots of salad and vegetables, as well as a small portion of whatever we are eating.
“It does seem to fill her up and she doesn’t seem to ask for food in the same way she used to when she was younger.”
Caitlin, who attends Northmuir Primary School in Kirriemuir, also has learning disabilities and requires the help of a support teacher in classes.
But thankfully, Ashley says, she doesn’t suffer from the common BBS symptoms of kidney or heart failure.
Meanwhile, the extra fingers and toes she was born with have been removed.
Kirriemuir parent’s dream to save daughter’s sight
The couple have also raised more than £150,000 for BBS UK, the only charity in the country that supports families with the condition.
As part of their campaign, which started six years ago, they organised an ambitious relay challenge earlier this year.
The ‘gene’ – a baton – was then passed on for further challenges in England and Ireland.
It is Ashley and Liam’s hope that the money will support a “breakthrough” in medical research – which could potentially prevent further sight loss in BBS patients.
Gene therapy and human trials at Great Ormond Street Hospital are planned for 2024.
It is their dream to save Caitlin’s sight before it is too late.
Liam, a contract director with Dundee construction company Kilmac, said: “Whatever happens, we want to be able to hold our heads high and say we did what we could.
“So if that is raising money to try to push the research on, then that’s what we need to do.”
For now, they are focusing on making as many memories as they can with Caitlin while she still has her sight.
Kirriemuir family surprised by Scotland rugby stars on BBC’s One Show
The rugby-mad family were even recognised for their fundraising efforts on the BBC’s One Show in September.
They were then taken to a training field at Heriot-Watt University in Edinburgh, where Scotland’s national rugby team were going through their paces.
To the family’s shock and delight, they were then introduced to the players – including Kirriemuir brothers Matt and Zander Fagerson – who gifted them signed shirts and a trophy.
It wasn’t their first time getting up close and personal with their favourite sporting team.
In July, Caitlin was even presented the match ball in front of a full Murrayfield stadium at the Scotland-Italy game.
Ashley said: “She took it all in her stride
“She walked onto the pitch and handed the ball to a player called Rory Darge who was captain that day and she gave him a huge hug as if he was her friend from school.
“She was absolutely delighted with herself.
“That is a memory that will stay with her while she’s got her sight and it will stay with us.”
Despite Caitlin’s condition, Ashley says that the family-of-four don’t miss out on anything.
They even enjoyed a trip to Disneyland Paris in November.
Likewise, it has never stopped “social butterfly” Caitlin from living her life to the fullest.
Ashley said: “Caitlin is a very social kid and she is well-loved at the school.
“She does brownies, swimming, rugby and riding.
“Her outlook on life is to be commended because she doesn’t get stressed by any change.
“She will happily try anything new and just enjoys being part of whatever is going on.”
There’s no doubt that raising a disabled child – or any child, at that rate – can be put a strain on one’s marriage.
But Ashley and Liam are stronger than ever.
She said: “If anything, it probably has brought us closer together, because she’s ours, and we’re ultimately responsible for her.
“Liam and I both say that if either of us could have had it instead of Caitlin, we would take it away from her in a heartbeat.
“There have been some very, very dark days and dark times in the past and it hasn’t been an easy ride – and it isn’t an easy ride going forward, especially when you don’t know what is ahead.
“But we remain close and we overcome all hurdles, as well as we can do, together.”
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