Taranaki couple's desperate bid to prolong life of young son with rare disease that causes self-harm

A Taranaki couple is making a desperate bid to prolong the life of their son who has a rare disease with distressing symptoms including extreme self harm.

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The distressing symptoms of 18-month-old Nash Jones include extreme self harm. Source: 1 NEWS

Eighteen-month-old Nash Jones is the only person in New Zealand with Lesch-Nyhan syndrome.

His parents are pinning their hopes on treatment in America that comes at a huge cost.  

"Generally he is a happy boy. He has a beautiful smile," Fran Jones, Nash's mother, told 1 NEWS.

Lesch-Nyhan syndrome is a incurable condition that causes physical and mental disabilities and can bring on self-mutilating behaviours, something no other disease does.

"That can include biting their own fingers, their lips and mouths, head-banging, eye-gouging," Ms Jones said. 

There's an 85 per cent chance that will happen - and it can start any time from two years old.

"A lot of cases with Lesch-Nyhan in the world they actually get their teeth taken out so they can't bite themselves. And having to do that as a parent is not something that we're looking forward to," Nathan Jones, Nash's father, said.

It leaves the family with two options - wait and see how the disease progresses, or  convince surgeons to perform a multi-million dollar, highly risky, stem-cell transplant.

The family was told the procedure could be done at Auckland's Starship Hospital.  But then the transplant team decided it was too experimental and there wasn't evidence to show it would be of any benefit.

Now their only hope lies with an American surgeon, Dr Joanne Kurtzberg of Duke University, North Carolina, who has carried out the procedure four times. 

Dr Kurtzberg told 1 NEWS the surgery is complicated, aggressive and risky.

"Approximately 10 to 15 per cent of children can die from complications within the first year," Dr Kurtzberg said.

"But based on prior experience I think the procedure will slow down the progression of his LND and also will prevent self-mutilation," she added.

But the odds aren't good. All those who've had the procedure have since died.

"It's scary, it's terrifying. He deserves the chance. We can handle having a disabled child. It's not anything any parents wants, but if he's going to be hating himself and hurting himself and our family, how do we live with that?" Ms Jones said.

The operation will cost $2.5 million. So far the community has raised more than $30,000 through a Givealittle page.

"It's just such a ridiculous amount of money. We know that. We know it's asking a lot, but we have to try," Ms Jones said.

But the clock is ticking because once self-harming behaviour begins there's less chance the surgery will stop it.