'Our son's illness has involved several turning points, like when we had to get him the gastric button'

Andrea remembers being well when she was pregnant with her son, Niel. Her medical check-ups were fine and there was no cause for concerns. The first few days at home with the baby also went by without any issues. But when Niel was only six days old, staff at the SJD Barcelona Children's Hospital alerted the family that there was an issue and asked them to come to the hospital.

Thanks to newborn screening, they were able to get a quick diagnosis: Niel had propionic acidemia, a rare and chronic metabolic disorder. This condition means his body cannot properly synthesise and process protein, be it animal or plant-based. If he consumes more than he can tolerate or less than he needs, it can cause decompensation, which can subsequently lead to neurological problems.

Dr Silvia Meavilla, a pediatric specialist in Gastroenterology, Hepatology and Nutrition at the SJD Barcelona Children's Hospital, explains that it is a multisystemic disease, affecting the entire body on a cellular level. 'It is not just protein that can cause decompensation, but also stressful situations such as an infection. The child's body cannot maintain its energy balance', she says.

The head of the Hospital's Congenital Metabolic Diseases Unit, Dr Àngels García Cazorla, points out that propionic acidemia encompasses a broad spectrum of conditions: from infants who are asymptomatic, to cases with severe brain damage following decompensation episodes. 'It all depends on metabolic control and how quickly you act', she explains.

The disease itself and associated metabolic decompensations can lead to involvement of other organs in children with propionic acidemia. One of the most sensitive is the heart, as it has a very high energy requirement, and the very restrictive diet that patients follow does not, in some cases, allow the heart to develop and function correctly.

Receiving a diagnosis

'At first you're in denial, because everything you're told is bad: the disease isn't well known, there's no specific treatment and there's no cure', says Lluís, Niel's father, remembering when they received the diagnosis. And Andrea adds: 'No one is prepared for it. I didn't want this life, this type of motherhood, or this chronic condition for my son.'

Over time, through countless questions asked of medical professionals for information, the family learned that diet and medication were the key to treatment. So, little by little, they adapted to this new, constantly changing life.

The dietitian at the SJD Barcelona Children's Hospital, Natàlia Egea, explains that these children need very strict, personalised diets, as what they eat is just as important as their medication. 'If they don't eat what they're supposed to or don't meet their energy requirements, there is a risk of decompensation', says Egea.

From a common illness to hospital admission

When Niel was two and a half, he suffered a serious decompensation episode following a common illness he caught at nursery. He stopped eating and had to be readmitted to hospital for weeks. 'It was the first time we really had to face the illness head-on', recalls Andrea. Niel had been in hospital before, but it was only then that they realised that a health problem which is mild for other children could lead to serious complications for Niel.

From that point on, and after four months with a nasogastric tube, it became clear that more permanent external support was needed to supplement his oral feeding and completely guarantee his nutrition. Medical staff suggested a gastric button. 'Accepting this device was one of the most difficult moments and it was a real turning point. No one wants to see their child fed like that', says Andrea.

For both Niel and his parents, it was a process of grieving and adaptation. At first, the boy never wanted to take his clothes off or look at himself in the mirror; he didn't want to see the device or look at himself with it. He also didn't want anyone touching his button, even during hygiene and maintenance. 'Seeing a tube coming out of your child's stomach isn't pleasant, but you have to get used to it', adds Lluís, who knows that it was the right decision for Niel's well-being.

Living with uncertainty

Niel's parents describe him as a cheerful and full-of-life child. 'He's happy, enthusiastic and has a great will to live', they say. Currently, he eats most of his food by mouth, follows a controlled diet, takes daily medication and is attends ongoing follow-up by specialists in Cardiology, Neurology, Gastroenterology and Psychoneurology.

Healthcare professionals highlight the importance of early diagnosis. 'There are no 80-year-olds with this disease because, unfortunately, they were never diagnosed and didn't live long enough to get one.' But everything is changing, everything is leading to new horizons, to a new future. We have changed the natural history of the disease just by diagnosing it in time', says Dr Geòrgia Sarquella, Head of the Pediatric Cardiology Department at the SJD Barcelona Children's Hospital.

'With a disease like this, you're always on alert, always afraid', admits Andrea. But they also explain that the disease has not separated them, but rather it has brought them closer together as a family. They have learned to live with the uncertainty and to enjoy the little things.

A fundraiser documentary

As rare diseases affect a small number of people, research into these conditions is often lacking. That is why Niel's family has filmed a documentary, directed by Sonia Solís, telling their story and showing their day-to-day life. The film, entitled 'Niel. Viure per sobreviure' [Niel. Living to Survive], was first screened at an event in Santa Susanna, Barcelona, and all proceeds from ticket sales were donated to the SJD Barcelona Children's Hospital to continue and improve research into propionic acidemia.