Olivia’s story

Ten-year-old Olivia Peterson was born with an extremely rare genetic condition which causes a build-up of ammonia in the bloodstream. It led to her becoming critically ill days after her birth and has left her with life-long health conditions.

Olivia was born healthy in 2012 and her mum Emma took her home from hospital the following day. But by three days old Olivia was rushed to her local hospital very unwell. The new-born rapidly deteriorated and became unresponsive. She needed ventilation and had a multitude of tests and scans, while doctors investigated the cause.

“Tests came back showing Olivia had raised ammonia, a toxic substance we usually excrete in urine,” Mum Emma, 46, explains. “Olivia’s body wasn’t excreting the toxin and the ammonia was accumulating in her blood, it was poisoning her body, but no-one understood why. She was rushed to London’s Great Ormond Street Hospital (GOSH). It hit me how serious it was. I felt numb. All I could do was stroke her tiny head, willing her to live.”

The next day the team at GOSH had a diagnosis; the rare life-limiting condition argininosuccinic aciduria, which affects one in 70,000 people in the UK. It occurs during what is called the urea cycle, where ammonia is produced from the body breaking down protein and the toxin is urinated out. Because of an enzyme deficiency, the ammonia in Olivia’s body had accumulated in her bloodstream, making her critically ill and causing brain damage.

The medical team had to filter Olivia’s blood to get the ammonia levels down quickly. They then needed to find the right balance of milk (protein) feeds and medication to keep her ammonia levels under control.

“We’d been told to prepare for the worst, so at that point we were grateful for anything,” Emma recalls. “We were relieved to finally understand what was wrong and find out there were children living with the condition.”

Olivia spent six weeks in GOSH, but doctors were unsure what the future held and whether she would learn to walk or talk. She did learn to do both and now aged 10 she is thriving, although her learning age is around half her chronological age, and she has epilepsy as well as autism. To control the urea cycle condition, Olivia needs to stay on a strict low protein diet and medication for life.

Emma says: “Her learning has progressed, and I am so proud of her. She is in Year 6 of a mainstream school, with a 1-2-1 assistant, doing work at her level. It will be so wonderful when she starts in a special needs school for Year 7 as it will be more suited to her needs.

“We have absolutely no idea how long we have with Olivia. If the ammonia levels get too high, it can be life threatening. She is also more susceptible to bugs, especially sickness bugs. You can’t leave Olivia on her own as she can have a seizure. She used to have tonic clonic seizures every two weeks but anti-convulsant medication has reduced the frequency. With all the trauma I promised I would try to balance out the tough times. Family time is like gold for us.”

Day trips are difficult with Olivia, as she can’t cope in busy environments and as Emma is a full-time carer for Olivia, she is limited in the treats she can afford for Olivia and her brother Jacob, seven.

The Sandcastle Trust wanted to help the family create those special memories with Olivia, through their Sandcastle Memories programme. The programme offers respite for families living with a rare genetic condition in the form of UK breaks and days out. The charity arranged a weekend away to CBeebies Land with a two-night stay at the CBeebies Land Hotel.

Emma says: “It was a beautiful sunny weekend; it was quiet and there were no long queues for the rides. It was absolutely wonderful and it was something we just couldn’t have afforded to do without The Sandcastle Trust.

“The hotel caters for children with learning difficulties, and they were great with Olivia. We stayed in a themed room, which the children loved, then watched the character shows in the evening. It was all very interactive and Olivia was able to meet the characters and have photos taken. She hugged and had photos with them all. She loved it and she did things I’ve never seen her do before – Olivia was dancing her socks off with the character Hey Duggee.”

Emma adds: “At CBeebies Land itself we went on the rides and Olivia was able to go on a rollercoaster for the very first time. We also visited the Sea Life Centre there and Olivia stroked a starfish. She was fascinated by the fish in the aquariums.”

Olivia’s brother Jacob also benefits greatly from day trips out together as a family.

“It’s hard to see the impact on Jacob,” Emma adds. “He gets really upset if he hears Olivia is unwell at school or having a seizure and needing an ambulance. He’s seven but he’s more like the big brother.

“It’s about making precious memories for the two of them. We also recently went to Willows Farm as part of the charity’s Sandcastle Santa programme. Olivia met Santa and he couldn’t have been more real for her, with elves and a winter wonderland. It was magical.”