Canterbury family hopeful of happy life for son, 4, diagnosed with terminal brain disorder BPAN

A mum whose four-year-old son has one of the world’s rarest terminal brain disorders says he remains “a very happy soul” despite the devastating diagnosis.

As few as 500 children globally are believed to have Beta-propeller protein-associated neurodegeneration (BPAN) - a condition caused by a mutated gene.

One of those is Bertie Napier-Roberts, who lives with his family in the centre of Canterbury.

BPAN has left the St Nicholas Special School pupil unable to walk and facing regular seizures - symptoms common with the disease.

Bertie’s parents, Emilee Joe Napier, 33, and Grant Roberts, 32, say they have been left heartbroken by the diagnosis.

"It is awful and really emotional what we're all going through,” Emilee said.

"My whole world just fell apart and the fact I can't fix my child destroys me.

"He is such a happy soul and good boy and makes everything so nice.

"All of this stuff is going on inside his body, but he's not in pain at all so we're blessed in that sense.”

Born at the QEQM Hospital in Margate, it wasn’t until Bertie was several months old that Emilee and Grant started to worry that something was wrong.

They noticed that he would regularly grind his teeth - and wouldn’t smile, laugh or look directly at people’s eyes.

At his nine-month check-up, doctors discovered his constant daydreaming was, in fact, absent seizures.

Although medication was now part of his life, a larger seizure forced the couple to seek more urgent treatment.

Bertie, who also lives with siblings Elijah, 12, Beau, 10, Chayse, 8, and Arabella, 3, underwent a full genetic test before being told he had a mutated WDR45 gene.

Neurologists from Great Ormond Street Hospital (GOSH) have since diagnosed him with BPAN.

The non-inherited disorder impairs the cell's ability to clear out waste, which is especially damaging to brain cells.

By early adulthood, people with BPAN will go on to develop dementia and Parkinson’s-like symptoms.

With no cure, it often progresses in early adulthood, leaving patients unable to survive past middle age.

Emilee added: "His capacity is between an eight- and 12-month-old baby, so his hobbies are looking in mirrors, interacting with people and playing with his brothers.

"As a mum, you're constantly depended on, but of course Bertie will be more dependent as he gets older and bigger.

“While he did stop developing, he can now wave, do little shuffles and say 'Mum'.

"I think in my heart he will walk eventually because he can weight-bear in his legs now and can side walk in his walker.

"But while we are all working so hard, he could get to 17 and begin to deteriorate, which is so hard to deal with and imagine.

"At that point, he could end up losing his life as he won't be able to eat and things like that.”

Today, Bertie - who loves listening to music and watching YouTube show Cocomelon - has regular physio and speech and language therapy.

His parents also remain in close contact with two neurologists - one at GOSH and another at Evelina London.

But full-time mum Emilee and landscaper Grant say they remain fearful of the future.

Emilee explained: “One seizure could take all of his progress away.

"The epilepsy is the scariest thing and something which we need to get under control as the medication still isn't 100% right.”

She says Bertie has a “strong core and is a heavy boy”, so it is getting harder to lift him, especially up the stairs.

“Our place isn't adapted for him, so we asked about building some bedrooms at the bottom of our garden so two of Bertie’s brothers can sleep there,” Emilee said.

"But the council doesn't allow that because I don't own the home, so I'm on the bidding register at the moment, waiting for something else.”

A charity football match has been set up by coaches at Sturry Football Club to raise money for BPAN, as neurologists look to improve treatment options for the rare disease.

Those wishing to donate can do so here.

The match will take place at Marlowe Meadows in Fordwich at 1pm on November 1.

Emilee said: “GOSH doesn't receive a lot of funding for BPAN and there's only so much I can do personally.

“That's why I'm setting up the charity football match so we can also raise awareness of this condition. I'm really excited for it.”