Meet the inspirational four-year-old with a condition that affects fewer than one in a million people

She was just 10 days old when she underwent an operation to correct her bowel after doctors discovered it was the wrong way round.

It was one of 15 birth defects, ranging from being partially sighted to having craniosynostosis, which means her skull will require surgery as it is restricting the growth of her brain. She also had a hole in heart, only one kidney, a cleft palate and no spleen.

Ever since she was born, her mother Krista, 38, father James, 35, and older brother Luca, seven, have provided Isie with love and support while doctors have been unable to diagnose her overall condition.

She was known to have SWAN (syndrome without a condition)and the family have been given support through the charity SWAN UK, who over the years have helped provide Isie with specialist support that both her and the family have needed through the difficult periods.

Isie has also been the face of Fareham Shopping Centre’s charity campaign and the centre has donated thousands to Swan UK by holding events during seasonal periods at Christmas and Halloween.

Only a couple of weeks ago, following research from Krista and her pressing Isie’s doctor at Southampton General Hospital to see if her daughter had a specific condition, the family were at last given a name.

Months of tests revealed that Isie has now been diagnosed with oculofaciocardiodental syndrome, otherwise known as OFCD syndrome.

The syndrome is extremely rare, with only 50 cases worldwide.

Isie’s long list of conditions all matched with the symptoms of the syndrome, which is fatal to boys but not girls.

‘Everything that she has got has been seen in this syndrome,’ Krista, who lives in Gosport, says.

‘However, her particular mutation is something doctors have never seen before and hers is seen as a more severe case of the syndrome. Some girls just match a couple of things on the list, but she has it all.’

Krista described how she sourced the breakthrough for Isie.

She says: ‘I was up Googling one night when I came across the syndrome.

‘The doctor originally discounted it, suggesting it was unlikely that it was what Isie had. But I insisted that we take a closer look at it as many of the symptoms were matching with Isie.

‘The decision was then made to take a look at it and after months of tests we got it confirmed a couple of weeks ago.’

Krista is Isie’s full-time carer and gave up a career in marketing and PR in order to look after her daughter.

While she admits that life can be non-stop, when it comes to looking after Isie she describes her as ‘truly amazing’.

‘We are very close and Isie has come to rely on me, as her communication and hearing isn’t great so it is almost like I’m her eyes and ears. While Isie has faced challenges in the past though, she really does amaze me with what she does and the person that she is.

‘She has got a really mischievous sense of humour and can be very determined, but she is also very resilient and an absolute trooper.

‘To think of all that she’s been through and how she’s battled through it and come out the other side, it’s truly astonishing.’

Krista adds: ‘She had so many operations when she was born, remains on a lot of medication daily and sees specialist doctors across three different hospitals.

‘Through it all she remains an extremely positive and expressive kid who wants to be as independent as she can be. She is truly amazing and a pleasure to be around.’

Isie’s future is uncertain as, because of the rarity of the syndrome and her severe symptoms, it is difficult to predict what will happen next.

Krista says: ‘A prognosis was something that I thought about asking her doctors about, but I never did and it is one of those things where, because of her severe symptoms, not a lot is really known about what will happen in the future.

‘We’ve heard about other girls who have the condition. They can live a normal life and have children of their own, so of course we are very hopeful she can experience things like that, but she will have the condition for life and all that happens in her future is very much an unknown at this stage.’

Isie attends Kings Copse Primary School in Hedge End, which provides specialist help for her as it has provision for children who are visually impaired.

She catches a taxi to the school every morning and is then picked up by Krista in the afternoon.

Because of her poor eyesight, her learning is assisted by specialist reading material. As Isie struggles to walk long distances, she can also use a specialist buggy.

Her speech has also been affected, meaning she has daily speech therapy. But Krista says that the family can all understand her, even if others may struggle to.

She adds: ‘Isie could talk for England. She absolutely loves talking and sometimes struggles to stop.

‘It can sometimes sound quite indistinguishable but after spending so much time with her, we all feel that we can understand her and she knows that.

‘She will talk to you and use sounds which are very similar to the words that she is looking to say, so if you spend time with her, you learn to pick up on the things that she’s referring to.’

‘Luca is great with her and really makes the effort to help her with her learning.

‘He’ll sit with her after school and the two will read over her books, with Luca trying to help improve her learning.’

Despite having the buggy, Krista adds that Isie’s keen to do as much walking as she can.

‘Isie is pretty mobile. She can walk, but she can’t run or jump properly. That won’t stop her trying though.

‘While the syndrome affects her in many ways, such as the fact that she can’t really rotate her arms, she can do most things that she wants to do.’

Krista adds: ‘She is our brave soldier and we will do everything we can to make sure she has the life she wants.’

WHAT IS OFCD?

Oculofaciocardiodental (OFCD) syndrome affects the development of the eyes, facial features, heart and teeth.

The eye abnormalities can mean that the eyeballs can be small, develop cataracts and are at a high risk of glaucoma, which can lead to vision loss.

It can also lead to a cleft palate and heart defects, with babies born with the condition often having a hole in the heart.

It affect fewer than one in one million people and is a genetic condition and occurs when a mutation takes place in the X chromosome.