A mum whose four-year-old son has one of the world\u2019s rarest terminal brain disorders says he remains \u201ca very happy soul\u201d despite the devastating diagnosis.<\/p>\n
As few as 500 children globally are believed to have Beta-propeller protein-associated neurodegeneration (BPAN) – a condition caused by a mutated gene.<\/p>\n
Bertie Napier-Roberts has the terminal disease, BPAN<\/p>\n
One of those is Bertie Napier-Roberts, who lives with his family in the centre of Canterbury.<\/p>\n
BPAN has left the St Nicholas Special School pupil unable to walk and facing regular seizures – symptoms common with the disease.<\/p>\n
Bertie\u2019s parents, Emilee Joe Napier, 33, and Grant Roberts, 32, say they have been left heartbroken by the diagnosis.<\/p>\n
“It is awful and really emotional what we’re all going through,\u201d Emilee said.<\/p>\n
“My whole world just fell apart and the fact I can’t fix my child destroys me.<\/p>\n
Bertie Napier-Roberts and his family<\/p>\n
“He is such a happy soul and good boy and makes everything so nice.<\/p>\n
“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.\u201d<\/p>\n
Born at the QEQM Hospital in Margate, it wasn\u2019t until Bertie was several months old that Emilee and Grant started to worry that something was wrong.<\/p>\n
They noticed that he would regularly grind his teeth – and wouldn\u2019t smile, laugh or look directly at people\u2019s eyes.<\/p>\n
At his nine-month check-up, doctors discovered his constant daydreaming was, in fact, absent seizures.<\/p>\n
Bertie and his family live in Canterbury<\/p>\n
Although medication was now part of his life, a larger seizure forced the couple to seek more urgent treatment.<\/p>\n
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.<\/p>\n
Neurologists from Great Ormond Street Hospital (GOSH) have since diagnosed him with BPAN.<\/p>\n
The non-inherited disorder impairs the cell’s ability to clear out waste, which is especially damaging to brain cells.<\/p>\n
By early adulthood, people with BPAN will go on to develop dementia and Parkinson\u2019s-like symptoms.<\/p>\n
Bertie Napier-Roberts has four siblings, including a younger sister<\/p>\n
With no cure, it often progresses in early adulthood, leaving patients unable to survive past middle age.<\/p>\n
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.<\/p>\n
“As a mum, you’re constantly depended on, but of course Bertie will be more dependent as he gets older and bigger.<\/p>\n
\u201cWhile he did stop developing, he can now wave, do little shuffles and say ‘Mum’.<\/p>\n
“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.<\/p>\n
Bertie and his mum<\/p>\n
“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.<\/p>\n
“At that point, he could end up losing his life as he won’t be able to eat and things like that.\u201d<\/p>\n
Today, Bertie – who loves listening to music and watching YouTube show Cocomelon – has regular physio and speech and language therapy.<\/p>\n
His parents also remain in close contact with two neurologists – one at GOSH and another at Evelina London.<\/p>\n
But full-time mum Emilee and landscaper Grant say they remain fearful of the future.<\/p>\n
Bertie Napier-Roberts has four siblings, including three older brothers<\/p>\n
Emilee explained: \u201cOne seizure could take all of his progress away.<\/p>\n
“The epilepsy is the scariest thing and something which we need to get under control as the medication still isn’t 100% right.\u201d<\/p>\n
She says Bertie has a \u201cstrong core and is a heavy boy\u201d, so it is getting harder to lift him, especially up the stairs.<\/p>\n
\u201cOur place isn’t adapted for him, so we asked about building some bedrooms at the bottom of our garden so two of Bertie\u2019s brothers can sleep there,\u201d Emilee said.<\/p>\n
“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.\u201d<\/p>\n
Bertie Napier-Roberts and his mum, Emilee<\/p>\n
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.<\/p>\n