'It hasn't sunk in, we're trying to stay positive'

AN AWARENESS and fundraising campaign is today being launched by the family of a 16-month-old baby boy, who has been diagnosed with the devastating genetic condition Niemann-Pick.

Just one day after New Year, doctors confirmed Shay Robert Williams-Savident had a form of the incredibly rare disease.

And, while they are now awaiting the results of further tests, they are 95% sure his condition is type A – the worst of its kind.

Shay's parents, Hanna Williams and Yhan Savident, were told the shattering news when their child was in hospital suffering from bronchiolitis.

They had been aware Shay had delayed development, but nothing could have prepared them for what they were told.

'It showed that he had delayed development at his nine-month check,' said Hanna.

'Doctors then started doing urine checks and blood tests.

'We were told on 2 January that they were definitely sure it was Niemann-Pick.

'We had never heard about it before and so we want to raise awareness of the condition.'

She said Shay had displayed many early symptoms of the disease and had the couple known more about it, they might have found out he was suffering with it earlier.

While the couple are remaining positive and do not want to dwell on how much longer they have with their child, they have been told it is unlikely that Shay will live beyond his fourth birthday.

'I don't think it's really sunk in yet – we're trying to stay positive all the way and we will take every day as it comes,' added Hanna.

Although incredibly rare, Niemann-Pick disease has affected one other family in the island.

Georgina Pearce was 11 when she was diagnosed with Type C.

She passed away in November, aged 19, after a courageous fight against the disease.

Type A differs to Type C, however, Georgina's Gang – the charity formed by the Pearce family to help raise funds and awareness for Georgina and others with the condition – is supporting Shay's family.

The campaign is being launched today, in conjunction with the charity, as it marks National Rare Disease Day.

Money raised will be used to help buy equipment, such as a specialised push-chair, sensory toys and a specialised swing.

Hanna and Yhan want to ensure Shay has the best quality of life they can give him.

They also hope they will be able to take him on a holiday where he can see his favourite animal, a monkey.