Georgina's story

'GEORGINA was a normal six-year-old girl. She was lively, top of the class in some subjects, a great swimmer and had loads of friends, when suddenly she began having memory problems.'

These simple yet poignant words from Georgina Pearce's parents sum up the cruel and sudden onset of their daughter's terminal illness.

It is a condition that has today, six years later, turned their world upside down and changed all of their lives forever.

Tania and Ian were to discover that Georgina, now 12, had been born with the rare, inherited genetic disorder Niemann-Pick Disease Type C (NPC), brought on by an unusual mix of defective genes from both parents. An uncommon but ruthless neurological disease that causes early dementia, it affects one in 150,000 people.

It is also life-limiting, with no known cure.

There are believed to be just 72 current incidences of Niemann-Pick Type C in the UK – with just one in the Channel Islands. Its speed can differ and survival rates vary, though in similar cases to Georgina's the patient would not be expected to live beyond the age of 15 or 16, and certainly not into adulthood.

But her parents are out to defy these odds through constant and loving care.

They also hope the latest medication she is taking may help prolong her life.

Since hearing the tragic news the pair have been through the gamut of emotions – from worry, fear, shock and anger to a moving, brave acceptance that there is very little, medically, that can now be done.

Every day is a challenge for the Cobo couple whose other daughter, eight-year-old Jessica, does not have the disease, though she has been diagnosed a carrier.

They have watched their beloved Georgina's health deteriorate rapidly, from mere forgetfulness to sudden collapses and seizures.

Early warning signs included slight hearing difficulties followed by more noticeable behavioural and social changes.

Soon she had problems keeping track of busy situations if there were several children around.

She became frustrated, distraught and unpredictable. Eventually, as her needs grew more complex, she moved schools to Le Rondin, followed by the new Le Murier.

Both schools have helped Georgina significantly, say her parents.

Despite all the initial symptoms, her mum and dad had still remained hopeful of Georgina leading a long and healthy life.

Speaking at their Route de Cobo home last week Tania said: 'We believed this was a problem we could get the tools to solve. But we had no idea what was around the corner.'

Since then, Georgina's body has become increasingly unable to dispose of excessive cholesterol, as well as other substances from the brain.

More physical problems have followed including slurred speech and movement difficulties. She suffers severe tantrums, sleep disorders and anxiety attacks, as well as most tragically of all, the early dementia.

'As it slowly gets a greater grip, so her moods tend towards a frantic depression,' explained Tania. 'She can become beyond reason: hating herself and the world she lives in. She will also cry uncontrollably and the moods can turn violent through

lack of understanding or frustration at her inability to perform routine tasks she sees others doing easily.'

After almost five years of extensive tests it was not until last February that the family finally knew for sure just what had changed their little girl's life.

And it was to be the worst news of all.

Doctors were able to officially confirm that Georgina had the incurable, degenerative disease – and they warned things could only get worse.

Niemann-Pick was a diagnosis that rocked the family.

'I'd come across the disease on the Net,' said Tania, 'but didn't even want to think it could be affecting our daughter.

'When the news finally arrived, it was a massive shock.

'I was totally numb for three days.'

Ian, too, was devastated: 'Each test and new diagnosis had been chipping away at our hopes and dreams for our daughter's future.

'But I suppose I had just been thinking, no one could be that unlucky – to have such a rare genetic disease.

'We'd had no inkling, no idea. Neither of us had known of any similar health problems in our families before.

'At that stage I could only think of getting through the days ahead. I gave very little thought to what would happen further along the line.'

Since then the family are finding ways to cope. Help is also on hand from grandparents and friends as well as from local agencies including Bell House and the island's Respite Centre.

There is also a UK support group.

With their daughter increasingly needing round-the-clock support Tania has recently given up her job, though Ian continues to work full-time.

Georgina is currently allowed compassionate use of an unlicensed drug that helps keep some of her symptoms at bay – though any cure remains a long way off.

Doctors have also warned she will eventually become totally dependent on others to help her function in every way.

All her mental and muscular abilities will cease – including simple, everyday tasks such as swallowing.

But while they are resigned that experts believe there is no cure, the Pearces story doesn't end there.

Now the family's main focus is to ensure Georgina's precious remaining time with them is as normal, painless and rewarding as possible. And they are determined to be as prepared as they can.

Friends of the couple have set up a charity to raise funds to adapt the family home so Georgina will have the loving stability and independence she needs to meet the challenges ahead.

A proportion of any money raised by the appeal will also go towards research into the heartbreaking disease.

Regardless of all the pressures and uncertainties her condition creates, the family remains close and determined to be there for Georgina – not least her little sister who is a calming influence, best friend and loyal companion. And although they all live amid constant uncertainty and often disruption there is no resentment at all.

'Our love is unconditional,' they say.

Yet despite the courageous approach, the signs of strain are never far away – with Tania needing to break off in tears during our interview.

'It is so upsetting as Georgina just loves life so much,' she explains. 'It is so very hard to accept what is happening. She has a cheeky, wicked sense of humour, loves music and is always smiling and laughing just like other little girls. It is hard – knowing that we are watching our daughter who we thought was fit and healthy, and who we love so much, gradually lose her physical and mental abilities.

'Knowing that she will one day not recognise her own parents or sister any more is impossible to think about, as is knowing it's unlikely she will survive into adulthood and that we will outlive our own child.'

Ian accepts that they now have a different Georgina to her younger self, which is something she is very aware of too.

'She knows things are different but we don't dwell on that. It's very, very easy to give up and get stressed about the future. But we want to enjoy her life with us as much as possible. We try to find something to smile about every single day,'

It's a positive mindset that Tania also believes will see them through: 'We treasure every moment and we try to make every day for her a good day.

'It's what every child deserves.'

• Find out more about the special charity set up to help Georgina, here.