Boy, 5, ‘wouldn’t laugh or sit up’ now rare condition threatens his life

A five-year-old boy has been diagnosed with an extraordinarily rare genetic condition after his parents noticed he wasn’t “laughing or sitting up”. Bertie Napier Roberts was diagnosed with Beta-propeller Protein-associated Neurodegeneration (BPAN) at the age of four.

BPAN is a rare condition triggered by mutations in the WDR45 gene on the X chromosome, resulting in an accumulation of iron in the brain that causes cognitive deterioration in adulthood. Boys typically experience more severe effects than girls due to the absence of a second X chromosome.

Should Bertie progress to the second stage of the disease, he faces developing dementia, Parkinson’s and dystonia. His family hopes he can undergo gene therapy replacement at Great Ormond Street Hospital, provided sufficient funding for the trials can be secured.

Emiliee, a stay-at-home mum from Canterbury, Kent, said: “My head was spinning when he was diagnosed – I burst into tears. How awful for him – I was a mess.

“The downside is the second degree of the disease is dementia, Parkinson’s and loss of life. There are fewer than 500 cases in the world and only 10% are boys, because girls have two X chromosomes, so they have one healthy gene.

“Whereas boys, their X chromosome is broken, so it shouldn’t have been a possibility in the first place. He is a massive miracle to us all.

“He makes little to no protein whatsoever to recycle brain cells, so they then die and your body naturally produces iron, which then accumulates in his brain and causes the second-degree stage. Mobility wise he can shuffle, but can’t walk or speak.

“If this gene therapy isn’t made by the time he does hit the second degree he’s going to lose all those skills – even smiling. It’s what he uses to reassure us and that’s my biggest fear, waking up and not seeing him smile.”

Bertie is Emiliee’s fourth child, meaning she and Grant Roberts, 32, immediately noticed he was failing to reach his developmental milestones.

She told Sell Us Your Story: “At nine months old I got hold of the health visitor and I thought it was maybe autism at that point – I didn’t think about a genetic disease or anything like that. He failed his nine-month check and she said she thought he had global development delay.

“We saw a paediatrician and physio. They were trying to get him to move and he was quite stiff on his right side.

“He used to daydream a lot and he would go into a daze mid-play. The physio asked how often he did that and they said they thought he was having absent seizures.”

Bertie received a diagnosis of absent seizures and global development delay, followed by genetic testing. The first round of results returned clear, prompting doctors to carry out full sequencing — leaving Emiliee and Grant facing an agonising year-long wait for the outcome.

The results ultimately revealed a mutated WDR45 gene, leading to Bertie being diagnosed with BPAN by a specialist at Great Ormond Street Hospital, which is actively researching the condition. Following the receipt of his full genetic test results, Emilee embarked on her own investigation into BPAN.

She explained: “We got a phone call and they basically said they had found a mutated WDR45 gene. I looked into and I put his mutation gene variant into Google – it came up with BPAN.

“I looked into that more and everything was ticking boxes for me. I contacted the neurologist and said I think he has this.

“It’s usually an automatic BPAN diagnosis if he has that mutation – she hadn’t heard of it before. I got hold of a specialist professor at GOSH and by February she’d seen us and gave us the diagnosis.”

The next step for Bertie and his loved ones will be gene therapy, which they hope will halt the condition from advancing to its second stage.