{"id":55337,"date":"2025-08-09T16:46:12","date_gmt":"2025-08-09T16:46:12","guid":{"rendered":"https:\/\/www.newsbeep.com\/uk\/55337\/"},"modified":"2025-08-09T16:46:12","modified_gmt":"2025-08-09T16:46:12","slug":"toddler-given-paracetamol-for-what-doctors-thought-was-fever-is-fighting-for-her-life-as-it-turns-out-be-rare-genetic-illness-and-only-500000-treatment-can-slow-its-progress","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/uk\/55337\/","title":{"rendered":"Toddler given paracetamol for what doctors thought was fever is fighting for her life as it turns out be rare genetic illness – and only \u00a3500,000 treatment can slow its progress"},"content":{"rendered":"

A three-year-old girl who was given paracetamol for what doctors thought was a fever is fighting for her life as it turned out to be a rare and deadly genetic illness that can only be managed with a \u00a3500,000 treatment.\u00a0<\/p>\n

Katie Hughes was rushed to hospital after having a terrifying seizure but doctors blamed the fit on a high temperature.<\/p>\n

Her parents Grant and Jessica Hughes were reportedly sent home with painkillers and told not to worry.\u00a0<\/p>\n

Devastatingly the seizures continued and after her seventh attack her parents demanded an explanation, so the doctors ordered genetic tests despite no family history connected to her symptoms.<\/p>\n

Katie was diagnosed with\u00a0CLN2 Batten Disease – a cruel, terminal brain disorder that will slowly rob her of her ability to walk, talk and see.<\/p>\n

Doctors have warned that she may not live past the age of eight to 12, meaning her parents could lose their daughter before she even reaches secondary school.\u00a0<\/p>\n

Grant, said: ‘I’d never even heard of [the disease] before.<\/p>\n

‘Jessica called me at work and told me to come home because the doctor wanted to give us the news together.<\/p>\n

\"Katie <\/p>\n

Katie Hughes (pictured) was rushed to hospital after having a terrifying seizure but doctors blamed the fit on a high temperature<\/p>\n

\"Katie <\/p>\n

Katie was diagnosed with CLN2 Batten Disease – a cruel, terminal brain disorder that will slowly rob her of her ability to walk, talk and see<\/p>\n

\"Despite <\/p>\n

Despite their heartbreak, the brave parents are determined to stay strong for Katie and her big sister MacKenzie, age seven (pictured)<\/p>\n

‘I’m not a crying person but I was tearing up – we were in pieces.<\/p>\n

‘They told us what was going to happen in the future but they didn’t straight away say she was going to die. I felt like they were skirting around it.<\/p>\n

‘I asked them outright what her life expectancy was and they told me it would be early childhood.<\/p>\n

‘It’s devastating. It’s hard to wrap your head around because she’s normal – she’s running around fine but all her skills will slowly go.’\u00a0\u00a0\u00a0\u00a0<\/p>\n

Unfortunately there is no cure for her illness but a \u00a3500,000 a year enzyme therapy can help slow the progress.<\/p>\n

The staggering therapy has to be given directly into the brain every two weeks through a permanent device.\u00a0<\/p>\n

The NHS has a special deal in place for children who have already started the treatment or who can start it before the end of 2025, according to the NICE website.<\/p>\n

But new patients after that may not be able to get the treatment on the NHS at all, because health bosses say there’s not enough long-term evidence it works and the price is too high for the NHS budget.<\/p>\n

\"Doctors <\/p>\n

Doctors have warned that she may not live past the age of eight to 12, meaning her parents could lose their daughter before she even reaches secondary school<\/p>\n

\"Unfortunately <\/p>\n

Unfortunately there is no cure for her illness but a \u00a3500,000 a year enzyme therapy can help slow the progress<\/p>\n

Katie’s parents are in a desperate race against time to try to get her onto the treatment before the deadline – or raise enough money to go private or even abroad if they have to.<\/p>\n

‘As a mother you’re always there for your children and I’m expected to just sit down and slowly watch her deteriorate and go,’ Jessica told NeedToKnow.<\/p>\n

‘It’s just hard to see that because she’s only three – she hasn’t even lived her life yet.<\/p>\n

‘She’s too young to understand what’s happening to her.’<\/p>\n

Katie’s symptoms first appeared in January this year.<\/p>\n

Despite their heartbreak, the brave parents are determined to stay strong for Katie and her big sister MacKenzie, age seven.<\/p>\n

Jessica added: ‘Everything is on a timer now.<\/p>\n

‘We want to take her to theme parks and Disney World while she can still enjoy it.<\/p>\n

\"Katie's <\/p>\n

Katie’s parents are in a desperate race against time to try to get her onto the treatment before the deadline – or raise enough money to go private or even abroad if they have to<\/p>\n

\"Katie's <\/p>\n

Katie’s loved ones have launched a fundraiser to help cover the sky-high treatment costs, specialist equipment and special days out<\/p>\n

‘Even that’s not simple – because she’s epileptic we have to pay \u00a3100 for special glasses so she can cope with the flashing lights.<\/p>\n

‘We put on a brave face every day but secretly it’s destroying. We have to be there for her – and for MacKenzie too.’<\/p>\n

Katie’s loved ones have launched a fundraiser to help cover the sky-high treatment costs, specialist equipment and special days out.<\/p>\n

Grant added: ‘We just want Katie to have the best days we can possibly give her.<\/p>\n

‘She deserves to smile, to laugh and to feel loved every single day we have left.’<\/p>\n","protected":false},"excerpt":{"rendered":"A three-year-old girl who was given paracetamol for what doctors thought was a fever is fighting for her…\n","protected":false},"author":2,"featured_media":55338,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[97,59,102,50,104,56,54,55],"class_list":{"0":"post-55337","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-health","8":"tag-dailymail","9":"tag-gb","10":"tag-health","11":"tag-news","12":"tag-nhs","13":"tag-uk","14":"tag-united-kingdom","15":"tag-unitedkingdom"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/55337","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/comments?post=55337"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/55337\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media\/55338"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media?parent=55337"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/categories?post=55337"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/tags?post=55337"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}