Mum's instincts and Children’s Hospital’s expertise save newborn Rory
Mum Sophie Hawker’s gut instinct told her something was seriously wrong with her little boy Rory.
After noticing alarming differences in her third child's behaviour, Sophie rushed Rory to A&E, where he was transferred to Birmingham Children’s Hospital and diagnosed with a rare inherited metabolic disorder affecting just 1 in 70,000 babies.
Sophie, from Bromsgrove, recounted her experience. She said: “Rory was my third child and he behaved very differently to my other children even in the first five days of his life.
“He slept most of the day, wasn’t interested in having his milk and wouldn’t open his eyes.
“I knew as his Mum that something wasn’t right, so I rushed him to A&E.”
When the paediatric team saw Rory they confirmed Mum’s suspicions that Rory was very unwell. Shortly afterwards, Rory’s health rapidly deteriorated.
Sophie said: “It was just awful, his body was shutting down and doctors couldn’t find out what was wrong. I thought I was going to watch my baby die.”
Doctors continued to search for an answer to Rory’s condition and a final test showed his ammonia levels were extremely high.
Ammonia is a waste product made by the body during digestion and the effects can quickly become life-threatening if untreated.
Sophie said: “Doctors told us that for Rory to survive, he needed to be blue-lighted to Birmingham Children’s Hospital in a KIDS NTS (neo-natal transfer) ambulance to be treated by experts.
“We didn’t even know if Rory would survive the journey. It felt like the longest drive of my life.”
When they arrived, a team was prepped and met them on arrival, ready to perform an urgent procedure.
Sophie said:“The level of care immediately blew me away. They had a team not just for Rory but for me as well.
“They took me aside and explained that they needed to clean Rory’s blood and try and get the ammonia out of his body.
Sophie explained: “Because the treatment needed to save him was so aggressive, there was a chance he might not survive. But they said this was his best chance and they would do everything they can for him.”
Rory spent eight days in the hospital’s Paediatric Intensive Care Unit (PICU) and responded well to treatment.
Sophie said: “It was such a relief for us that he was doing well and that he was being cared for by the team so well.”
Sophie and dad Hayden met with the hospital’s specialist Metabolic team, who told them that Rory had Argininosuccinic Aciduria (ASA), a rare genetic disorder that affects how the body breaks down protein.
Sophie explained: “I was just in shock. I had two healthy girls so I didn’t expect to have a child with a genetic condition. The consultant said his condition could have caused brain damage and meant he might have learning difficulties.
“I just felt my world crumble, and I felt alone. We researched ASA and couldn’t find many other parents who had gone through what we were going through.”
Despite these challenges, Rory made a strong recovery. He moved from PICU to a ward, transitioned from tube feeding to bottle feeding, and was eventually discharged.
He continues his recovery at home, with regular appointments with the metabolic and dietetics team to support Rory's low-protein diet.
Sophie said: “No level of thanks will ever be enough for the care this hospital has provided. As a parent, you couldn’t ask for anything more. I owe them my son’s life.
"They say ‘it takes a village to raise a child’ but in this case, it’s taken a whole hospital."
She added: “The consultants, the nurses, the dietitians, the cleaning staff, they are all heroes in our eyes. We are just so grateful.”
Dr Anne Daly, Specialist IMD Dietitian, said: “Urea cycle disorders are extremely rare and potential life threatening conditions particularly when children become unwell. Living with any long term disorder is often a hidden burden for families particularly in times of illness when ammonia may be raised.
“Dietary treatment (reducing the protein intake) together with medication is challenging but vital in ensuring adequate growth and good metabolic control.
“The family have done an incredible job of supporting Rory and I am so happy he is making such excellent progress.”
Sophie set up an Instagram account to connect with other parents of ASA children and raise awareness Rory's condition. Sophie has now found vital support from other families through social media. You can follow the family's journey on Instagram using the handle @rare_life_of_rory