A coroner has said there was a “lost opportunity” to carry out a potentially life-saving test on a teenager who died from a rare genetic condition triggered by drinking a protein shake.
A post-mortem examination on August 28 2020 could not ascertain his cause of death – a late onset of the rare disease ornithine transcarbamylase (OTC) deficiency, an inquest has heard.
This was because his liver and kidneys were donated for transplant before the mystery of his sudden illness was solved.
His cause of death was not revealed until months later when the recipient of his liver was admitted to hospital.
OTC prevents the breakdown of ammonia, causing it to build up to lethal levels in the bloodstream, and can be triggered by a protein load.
Concluding Rohan’s inquest at Milton Keynes Coroner’s Court in Buckinghamshire on Friday, senior coroner Tom Osborne said: “I find that on August 15 Rohan was given a protein shake purchased from a supermarket and that this triggered an acute reaction.
“I find that Rohan suffered from OTC deficiency that was unknown to him and his family at the time.”
He called Rohan’s death a “tragedy”, adding: “There is no doubt that this was a young man with a bright future ahead of him.”
Mr Osborne said Rohan was admitted to West Middlesex Hospital, part of Chelsea and Westminster Hospital NHS Foundation Trust, where advice was taken from the neurologists at Charing Cross Hospital who said “he should be tested for ammonia”, but this test was not carried out.
In a narrative conclusion, he said: “The deceased was admitted to West Middlesex Hospital on August 16 2020.
“His hyperammonaemia and OTC deficiency was not diagnosed.
“The failure to carry out a test for ammonia that would have revealed the hyperammonaemia resulted in a lost opportunity to render further medical treatment that may, on the balance of probabilities, have prevented his death.
“He died on August 18 2020.”
Doctors had been unable to confirm the underlying cause of Rohan’s fatal brain swelling.
Approximately six months after the transplant, the recipient of Rohan’s liver was rushed to hospital with symptoms including seizures and hyperammonaemic encephalopathy, a metabolic condition precipitated by elevated blood ammonia.
They required intubation and ventilation in an intensive care unit before their condition improved over a few days, the inquest has heard.
An independent expert later identified the link between the two cases and a biopsy on tissue from the donated liver established that Rohan had suffered from OTC, which was then recorded as his cause of death.
The coroner now intends to issue two prevention of future death reports.
One report is to the Food Standards Agency and will call for a health warning to be added to the protein shake in question to alert other OTC sufferers of the risk, despite the rarity of the disease.
He said: “It does concern me that this product, this protein milkshake, is readily available.
“It’s available online, you can buy it in bulk, you can buy it in the supermarket and there is no mention on the literature of the possibility of someone who suffers from OTC having a reaction to it.”
The other report will be to NHS England because Mr Osborne feels it should review the guidance that is given with regard to the treatment of patients between the ages of 16-18.
The coroner repeatedly raised the issue during the inquest of whether 16 to 18-year-olds “almost fall between two stalls” when it comes to them getting paediatric or adult care.
Lawyers for Rohan’s family had argued he should have been transferred to Charing Cross Hospital, which has dedicated neurology and neurosurgery departments.
The inquest heard that the hospital could not take him because he was a paediatric patient rather than an adult.
In a joint statement provided to the PA news agency after the inquest, Rohan’s parents Pushpa and Hitendra Godhania said: “When a child is taken to hospital, you expect the system to pull out all the stops to save their life. This did not happen in Rohan’s case.
“It has taken almost three years for our inquest to be finally heard. We feel very strongly that the lack of transparency from the trust played a key part in the delay.
“Bereaved families should not have to fight to be heard. We should not have to fight for information that should be rightfully available.
“Our experience shows the opposite of a just and learning culture. We experienced a defensive and insensitive attitude. We were constantly told that there were no issues with Rohan’s care. But poor quality reviews will fail to identify any learning.
“We believe the system closed ranks. In the meantime, children like Rohan pay with their life.
“Our ultimate goal has always been to uncover shortcomings in the care provided to Rohan and to ensure that there is learning, so that other families will not have to suffer a similar loss.
“While the conclusion of the inquest brings some closure, as Rohan’s family we continue to advocate for greater transparency and improvements within the healthcare system.
“We hope that the lessons learned from Rohan’s case will contribute to meaningful changes that help prevent such tragic deaths in future.”
Sarah Kingsley Fried, from Fieldfisher, representing the family at the inquest, said: “This inquest would not have happened were it not for Rohan’s parents and their tireless pursuit of answers about their son’s death.
“For nearly three years they fought to establish that the care he received warranted investigation. Today it is clear they were right.”