‘Gorgeous’ little boy faces a life of pain
A family have spoken of their pain at raising a child with a disease so rare he is the only person in the country to have it.
Nash Jones, who is just 13 months old, has Lesch-Nyhan Syndrome, a condition that can result in constant kidney issues, physical and mental disabilities, and potentially bring on selfmutilating behaviours.
These could include trying to bite off his fingers, tongue and lips, throwing his head against the wall or even gouging out his eyes.
The New Plymouth youngster could also be in a wheelchair by the time he reaches adulthood – if he lives that long.
‘‘We’re just waiting because the behavioural stuff can start from any time now,’’ Nash’s father, Nathan Jones, said. ‘‘So every time he sticks his tongue out or his lip goes in his mouth, you’re just scared that self-harm or self-mutilating behaviour is starting to kick off.
‘‘It’s horrible because you know it’s coming, it’s just a matter of when.
‘‘It just breaks you. He’s just such a gorgeous little boy at the moment.’’
Nathan and partner Fran Gulliver became concerned their son wasn’t developing properly and consulted doctors.
‘‘At one stage they thought that it may have been cerebral palsy and we were just sitting at the hospital crying,’’ Jones said. ‘‘Then about two weeks later we were up at the hospital, and they were saying it could be this condition.
‘‘We just Googled that and our world fell down around us. It was like, ‘holy’; we’re actually hoping that it’s just cerebral palsy.’’
Last week Nash was in hospital for a kidney stone. He’s already had seven surgically removed. The family, including Nash’s siblings Jess Bielski-Jones, 9, and two-and-a-half year old Quinn Jones, is currently in limbo – they spend time in and out of Starship Hospital in Auckland and Taranaki Base Hospital in New Plymouth.
The one proven treatment is to remove Nash’s teeth, but his parents are looking for alternative options.
While the condition is rare in New Zealand, Dr Callum Wilson, who specialises in rare diseases, said it is known among medical professionals.
‘‘It’s a very well-known disease because the clinical picture is so characteristic, and so dramatically awful,’’ Wilson said. ‘‘You can’t polish it up in a nice way and put it on your mantelpiece – it’s ugly.
‘‘He’ll get developmental regression, so his brain will get destroyed, and he’ll have selfmutilating behaviours, and he will die.’’
Wilson is the founder and clinical director of the national metabolic service based at Starship Hospital.
He said the kidney stones and their cause is relatively easy to treat, but the behavioural side isn’t.
‘‘We need to look after his kidneys and his brain but the brain is a little out of our control.’’
‘‘He’ll be on some medication but essentially his prognosis is absolutely horrid.’’
In saying all of this, and knowing that Nash may never walk or talk, the family still have smiles on their faces and are more positive than most.
‘‘You have to be,’’ Jones said. ‘‘You’ve got to be on track; you’ve still got lives to live and be there for the other kids and still function at work.’’
Gulliver said the thought of losing Nash breaks their heart.
‘‘We know that he won’t be here for that long, so that’s a pretty strange reality to come to as parents,’’ she said. ‘‘So we just try to enjoy every day.’’