“We want to raise awareness so that no other families have to go through what we did”: Elliot’s family speaks out about the condition that caused his death

Helena Romanes School pupil Elliot was 14-years-old when he died on March 9, having been diagnosed with ornithine transcarbamylase (OTC) deficiency at Great Ormond Street Hospital (GOSH) where he was treated.

Explaining the disorder, the charity Metabolic Support UK says: “In this disorder there is a deficiency or absence of the enzyme ornithine transcarbamylase and this prevents ammonia from being converted into urea. This leads to a build up of ammonia in the body and causes the symptoms of this disorder.”

The symptoms vary between individuals but a child with the disorder can suffer seizures, and if left untreated, fall into a coma.

Elliot’s mum Holly Storey and stepfather Andy Storey, of Dunmow, plan to meet with a minister in the Department of Health and Social Care to discuss what can be done to prevent more deaths caused by OTC deficiency.

Mrs Storey said: “We are going to ask that all A&E departments are made aware of urea cycle disorders and to think to check ammonia levels . We want to raise awareness so that no other families have to go through what we did and still are going through.

“We have since found out that another hospital has made changes after a child presented with a urea cycle disorder and now have it highlighted in their A&E department to check ammonia levels when a patient presents with the symptoms associated with OTC deficiency.”

Describing the hours leading up to Elliot going into hospital, Mrs Storey said: “He had been sick at the weekend but was feeling a lot better by the Sunday evening. On the Monday he appeared to be staggering when he got out of bed, things then changed very quickly. He was unaware of who I was, and could not reply to me as normal when I asked him questions.”

Since Elliot’s death more than £15,000 has been raised for GOSH in his memory, following a fun day and donations from members of the community.

Speaking about her son, Mrs Storey said: “Elliot was an outgoing boy, he had lots of friends who he went to school with at Dunmow St Mary’s Primary School and then onto Helena Romanes School. His hobbies were fishing and supporting Arsenal Football Club. He was a very loving, caring and happy boy. He always thought of others, a couple of years ago he noticed a homeless man sitting on the floor, he went into the nearest shop and bought a sausage roll, which he then handed to the man. As Elliot was so caring we made the decision to donate his organs.

“A lady in her thirties received a kidney and pancreas transplant, a man in his forties received a kidney transplant, a six-year-old boy received his heart and a man in his sixties received a lung transplant. Elliot’s eye tissue has been stored until a suitable match is found.”

Mrs Storey has discovered that whilst she does not have OTC deficiency, she carries the defective gene which causes the condition. Members of her family also have the condition and she has relatives waiting to be tested.

Plans for Elliot’s family to meet with a government minister emerged after Saffron Walden MP Kemi Badenoch asked Prime Minister Theresa May if she would meet with the couple and herself.

During Prime Minister’s Questions on October 17, Mrs May responded: “I understand that the condition is associated with an inherited metabolic condition

“Some of these conditions are very rare and staff are not always on the lookout for symptoms of such rare conditions, but we are committed to ensuring that the NHS always seeks to learn when things go wrong, to ensure that such tragic events can be prevented for future parents.”