Two years after our toddler’s sudden death, our world collapsed again

The months following Alexander’s death were any parent’s worst nightmare. As Cooper and her husband, Darren, navigated their way through inexpressible grief, they also tried to keep life as normal as possible for their young family: Cooper was six months pregnant with a daughter and Freddie, then two, was full of questions.

“We could never predict what Freddie was going to ask us,” Cooper recalls. “For the first few days, he kept bursting into Alexander’s room, expecting him to be there, or asking us why he didn’t have a gravestone like his brother.”

The hospital concluded that Alexander was a victim of SUDC, or sudden unexplained death in childhood. SUDC claims about 40 children a year in the UK and is the fourth-biggest killer of children aged one to four. It is a particularly cruel tragedy: parents face not just the death of a child, but also the absence of a clear explanation.

Desperate for answers, Cooper began agonising over the possible causes of Alexander’s death. He had a bug in the days before Christmas, but this was not unusual for a toddler and he was communicating normally. He had suffered from seizures but doctors had recorded them as febrile, which are usually not an indicator of serious illness.

“When it’s unexplained, you start to reanalyse everything,” she says. “Paediatricians with 20 years of experience were really bemused by Alexander’s death, so we went through everything in our house, wondering if it was the bleach we’d cleaned the bath with, or salmonella poisoning from a KFC.”

In February 2022, the hospital conducted a full-body examination and Cooper received the results in August. “I’ll always remember that day. It was the end of the summer holidays, so we were walking past all the families in Clarks shopping for school shoes for the new term,” she says. “I kept thinking, that’s what we should be doing with Alexander.”

The coroner listed sapovirus, a form of gastroenteritis or stomach flu that triggered a seizure, as the assumed cause of death. “We almost consoled ourselves with that,” Cooper says. “That it was this freak, one-off thing and our other children would be fine.”

Life slowly continued. Isabelle was born and Freddie started nursery; they conceived another child, Sophia, who turns one next month.

Then, almost two years later, in October last year, the family’s world was upended once more.

______

After Alexander’s post-mortem examination, Lancashire & South Cumbria NHS Foundation Trust had requested full genome sequencing, a laboratory method that tests blood samples from Alexander and his parents to determine their genetic makeup.

When the results arrived, they found that Cooper and her husband were carriers of PPA2 deficiency, a rare mitochondrial disease that can cause sudden cardiac death in young children.

As with diseases such as cystic fibrosis, PPA2 doesn’t pose a risk when you are a carrier of one variant of the gene; Emily and Darren Cooper would not have experienced symptoms or known they were carriers. But when those genes merge, the variant can pass to the children and cause mitochondrial disease, meaning your cells cannot produce enough energy.

Alexander had inherited the variant and Cooper’s other children — Freddie, Isabelle and Sophia, who was yet to be born — had a one-in-four chance of inheriting the gene. They needed urgent testing.

“I’d spent the last two years trying to come to terms with never having an answer and now I was learning my other children could die too,” Cooper says. “I don’t even have a word to describe that feeling.”

It was an agonising two-week wait for the results, the worst of her life. Eventually, an expert called and confirmed that Freddie and Sophia were free of the mutation. Isabelle, however, had inherited it. “I felt like my soul left my body,” Cooper recalls. “I still can’t believe it. I can’t believe that this has happened to them and that it’s something that we had just no control over.”

Cooper became fixated on Isabelle’s health and PPA2. She read medical journals, pored over research papers and searched for other families in their position. PPA2 is thought to affect only 60 families worldwide but, given the lack of research, Cooper thinks it could be more. There are no PPA2 medical experts in the UK, so the family were referred to a genetic cardiologist.

“Nobody really knows what PPA2 is,” says Cooper. “Darren and I are academics so we had institutional access to research papers, but it was very clear that the medical staff had just read the same stuff we had. In some ways it felt like we were more in the know than or at least on par with the people who were supposed to be helping us. That was scary.”

There were many decisions to make; the most agonising was whether Isabelle should undergo a high-risk operation to fit a defibrillator to help restore a normal heartbeat if she went into cardiac arrest. Isabelle was seemingly in good health, so Cooper and her husband decided to wait.

They were advised to come for a check-up every six months and take Isabelle to hospital if she was unwell. “It felt like we were waiting for her to die, while constantly trying to prevent her from dying,” Cooper says.

Then, early on September 19, Cooper’s worst fears became a reality: Isabelle was taken to hospital after a bout of vomiting. Within an hour, she’d gone into cardiac arrest and died.

“It’s just disbelief again, even though to an extent it was probably more expected,” says Cooper. “But Isabelle was always so full of energy that maybe we’d partly convinced ourselves she’d be one of the lucky ones.”

Two months on the family’s home is a maze of toys and family photographs, but without two of Cooper’s four children, it’s much quieter. Isabelle’s pink bedroom remains untouched with Sylvanian Families and My Little Pony figures dotted around the room, her teddy bears arranged carefully on her bed. “We moved into this house because we wanted to give Isabelle a garden,” Cooper says, gazing out of the window at the pink plastic slide.

______

Though it may not have changed Isabelle’s fate, Cooper believes more research into PPA2 and other mitochondrial diseases could allow for parents such as her to take more preventative measures, such as avoiding products containing alcohol and immediately fitting a defibrillator.

Since January last year, families in England who have experienced unexplained infant or child death are eligible for whole genome sequencing if the death remains unexplained. But unlike the Coopers, many families have to ask hospitals to submit them for it, a process that requires a specialist multidisciplinary team to decide whether genomic testing is necessary. Cooper is campaigning for all trusts to recommend it immediately and advise parents correctly when they have to fill out forms about what to do with post-mortem samples. “If you tick to destroy the samples, you can’t later do genetic testing,” she says.

Losing Alexander and Isabelle has opened her eyes to what’s important in life. “You try to make the best of life after your child dies, but it’s never the same again,” she says. “It’s made us live more in the moment and that’s our mentality now: if we ever feel like doing something with the children, we do it. We just let them have the chocolate buttons.”