SMILING happily in the company of his loving family, Luca Pucella looks no different to thousands of children his age across Wales.

But behind his family’s happy exterior lies a devastating reality - Luca suffers from a rare and incurable illness that affects just 75 people on the planet... and could kill him at any moment.

Luca suffers from an extremely rare syndrome known as ROHHAD (Rapid onset of Obesity with Hypothalmic Hypoventilation Autonomic Dysfunction), which means he puts on weight at a rapid rate and also has severe trouble with his breathing.

He is one of approximately 75 people in the world to be affected with the disease, and is believed to be the only the fourth child in the UK to be diagnosed with the condition.

The life-limiting condition means Luca’s parents, Beth and Angelo, face the constant anguish of losing their son to a cardiac arrest and have to provide the five-year old with round-the-clock care.

Although Luca currently only weighs around 26kgs, there is concern that he will suddenly put on a lot of weight, so doctors are hoping to give him growth hormones to accelerate his height growth so his body can cope better with the weight gain.

Just a few months ago, the family were faced with a shock when Luca, who had been coping well with his symptoms, had to be rushed into hospital after arresting unexpectedly in their home in Bridgend.

Beth said: “Luca is fine again now, but he was very unwell. Luckily Angelo was here to resuscitate him, but he had to go back to the hospital. Thankfully for these kind of things we can go to the hospitals in Cardiff or Bridgend, but we are still in a lot of contact with the doctors in London to get advice on what we should be doing.

“It’s not the first time Luca has arrested but we still don’t know what exactly caused the problem for that arrest. He had been doing quite well with his breathing and things. It was such a shock as he had been doing quite well. It’s still just a matter of trial and error with his condition. We have to review things all of the time.”

Luca’s illness is so rare that Beth and Angelo struggled to get a diagnosis, having to travel to Great Ormond Street Hospital in London to be seen by a consultant who had only diagnosed two other children with the condition.

The couple, who believe Luca was the 36th case to be diagnosed worldwide, were alerted when he suddenly put on weight rapidly in a six to eight-week period when he was two-and-a-half.

Beth said: “Because he was our first child we just thought he was having a growth spurt and we did not think too much of it. We first went to the GP in the November or December when he developed a squint and he became very giddy with vertigo. We were back and forth between hospitals in Bridgend and Cardiff and he was eventually diagnosed the following July in London at Great Ormond Street Hospital.

“It’s a new condition so it was difficult as there was nowhere we could get support. With a condition like cystic fibrosis there are support groups and they are well established. But Luca’s condition is so rare and no-one knows if we are doing the right things. It is a huge learning curve.

“When we got the diagnosis we were just pleased that someone knew what it was and that something could finally be done. But we then looked on the internet and what we read was just horrific. It was such an awful feeling to learn that there was no cure.”

Luca now has to take a number of medications to help him cope with the condition and has to use a ventilator at night to keep his breathing stable.

Beth said: “The most pressing problem is that he under-breathes when he sleeps so he needs to be ventilated. It is 24/7 care. He has a carer when he goes to school and he has to have his ventilator near him at all times should he have an accident and become unconscious.”

The 34-year-old nurse, who has to balance Luca’s needs with the care of her three-year-old daughter Sofia says they try to give their son as much of a ‘normal’ childhood as possible, which is helped by Luca being able to attend mainstream school in Broadlands.

Beth said: “Luca needs 24/7 care but we try to live as normal life as possible. He is doing well at the moment, he’s enjoying school and getting on fine. He is a very bright child and does very well at school. Sofia will also be starting school soon, which will make things a lot easier.

“Initially it was hard when we had Sofia as she was only a baby when everything kicked off. But thankfully she doesn’t know any different and she takes it all in her stride. ”

Luca’s father Angelo, a 34-year-old teacher, said: “It has turned our life upside down. We grieve for the loss of a healthy child who was always happy, smiling and gentle natured, to one who requires constant supervision both day and night.

“We live in constant fear that he may arrest, and potentially die, and of the endless symptoms that he may develop as he gets older.

“We must stay positive. We hope that with appropriate help and support, our family life can be as ‘normal’ as possible, and that Luca leads a happy and fulfilling life.”

As they are limited with the number of people who are fully trained to look after Luca, the family also receive support from Ty Hafan, which gives them a chance to get Luca the care he needs while being able to make the most of some respite time.

Beth said: “It’s nice to go and meet other mums who experience similar things. The staff are just so welcoming and understanding. We recently went down to stay in the hospice in October and it was lovely to get some respite time.”