Parents raise thousands at charity event in memory of their baby son

A family who lost their baby to a rare genetic disease have raised more than £16,000 at a ball held in his memory.

Susie Ash, 34, and her fiancé Justin Thorndyke, 42, welcomed 300 people to Sprowston Manor on Saturday night to fundraise for the East Anglian Children's Hospice (EACH) in Quidenham.

The couple, from Forncett St Mary, near Diss, have received unending support from the hospice since their son James died last year.

Susie said: 'On the night he died they gave us the equipment to be able to keep him at home and then arranged the transport for him to the hospice the next day.

'They also helped me hold him, which at the time I hated, but they told me they had never had a couple regret holding their baby.

'And they were right, because I'd give anything to hold him right now.'

James died before his first birthday from Severe Combined Immunodeficiency (SCID) which could have been detected with a simple £2.50 test.

Professor Bobby Gaspar, from Great Ormond Street Hospital, said screening would have diagnosed James at birth and meant he could have been successfully treated for the condition.

Susie, who has also campaigned to make the test standard for newborns, decided to host the ball to raise money for EACH's Quidenham Hospice.

'I hadn't ever done anything like this before,' she said.

'And we were amazed at how generous everyone was - I was hoping to raise £7,000 but we have counted up over £16,000 and there's still more money coming in.'

The sell-out event boasted an auction, a raffle and live music from Noriwch-based band Pure Passion.

A photographer, Jenny Foulds, also offered her services free-of-charge after Susie reached out to her through another parent of a child with SCID.

'We received so much support to bring the event together and I am thinking of running a family fun day soon which children can attend,' said Susie.

'It can be so hard to carry on because you want to crawl into a hole but you can't do that when you have other childen.

'Quidenham helped us so much so we want to help them.'

What is SCID?

Severe combined immunodeficiency (SCID) is an early childhood genetic disease which means babies are born with a defective immune system.

Infants with the disease are usually aged between three and six months and endure severe and repeated infections - without effective intervention most children will die before they are one.

Bone marrow transplantation or gene therapy can be used as a cure in these cases but has a 90pc higher survival outcome when babies are diagnosed at birth and treated before they develop any infections.

This requires the use of a biomarker called a TREC - TRECs can be detected from a routine heel-prick dried blood spot which costs just £2.50.

Newborn screening programmes using TREC are now underway in 40 states in the USA, nationally in Israel, approved for national use in The Netherlands and New Zealand and in regional or pilot programmes in Norway, Sweden, France, Spain, Germany.

The screening test

Professor Bobby Gaspar of Great Ormond Street Hospital has been working on getting a national screening programme for SCID implemented for the past five years.

He says it is devastating for the 20 babies born a year with the condition not to have immediate access to the simple heel-prick test at birth.

Early detection takes the survival rate and capacity to live a normal life from 50pc to more than 90.

'If we don't screen, half of these would lose their lives which is what happened to Susie Ash's son,' Prof Gaspar said.

'It is not just the cost to the children but to the families too. They go through an awful lot and you can't quantify that, especially in this case.

'If we had diagnosed James at birth and put him on antibiotics and then done a bone marrow transplant the outcome could have been very different.'