Latest news with #geneticillness
Daily Mail
3 days ago
- Health
- Daily Mail
Toddler given paracetamol for what doctors thought was fever is fighting for her life as it turns out be rare genetic illness - and only £500,000 treatment can slow its progress
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 £500,000 treatment. Katie Hughes was rushed to hospital after having a terrifying seizure but doctors blamed the fit on a high temperature. Her parents Grant and Jessica Hughes were reportedly sent home with painkillers and told not to worry. 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. 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. 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. Grant, said: 'I'd never even heard of [the disease] before. 'Jessica called me at work and told me to come home because the doctor wanted to give us the news together. 'I'm not a crying person but I was tearing up - we were in pieces. '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. 'I asked them outright what her life expectancy was and they told me it would be early childhood. '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.' Unfortunately there is no cure for her illness but a £500,000 a year enzyme therapy can help slow the progress. The staggering therapy has to be given directly into the brain every two weeks through a permanent device. 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. 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. 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. '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. 'It's just hard to see that because she's only three - she hasn't even lived her life yet. 'She's too young to understand what's happening to her.' Katie's symptoms first appeared in January this year. Despite their heartbreak, the brave parents are determined to stay strong for Katie and her big sister MacKenzie, age seven. Jessica added: 'Everything is on a timer now. 'We want to take her to theme parks and Disney World while she can still enjoy it. 'Even that's not simple - because she's epileptic we have to pay £100 for special glasses so she can cope with the flashing lights. 'We put on a brave face every day but secretly it's destroying. We have to be there for her - and for MacKenzie too.' Katie's loved ones have launched a fundraiser to help cover the sky-high treatment costs, specialist equipment and special days out. Grant added: 'We just want Katie to have the best days we can possibly give her.
The Review Geek
15-06-2025
- Entertainment
- The Review Geek
Our Movie – K-drama Episode 2 Recap & Review
Episode 2 Episode 2 of Our Movie begins with a flashback. Da-eum is an extra at a shoot but she has an attack and ruins the take. A montage shows Da-eum's mother who is terminally ill and her father, a doctor who works day and night to find a cure. Mrs. Lee is the one who introduces the handycam and pretends her IV drip is grape juice. She dies and Dr Lee is heartbroken to learn that her illness is genetic; it has been passed onto Da-eum. In school, Da-eum auditions for a play on Frida Kahlo and embraces the applause. She narrates that her life is too short, so she wants to live as many lives as she can as an actress. She also tries not to live in fear but knows that she can die any day. She recognises Je-ha at the restaurant and learns of the remake when she Googles him. She decides to rewatch the original as she loves it and that's how she runs into him at the cinema. She then sees the remake's script at Dr Kim's and begs him to get her an in. At present, Je-ha and Da-eum begin their session. He believes that epic love is a trick to which she disagrees. She claims that hope for love gives her the strength to stay alive. She also confesses that the funeral reignited her fear of dying. She wonders if he knows what suffocating by fear feels like and he recalls his sick mother. In the original's end, the female lead lives. The female lead dies in the remake and Da-eum realises that this is her chance to star in a movie that is pretty much her story. As for Je-ha, he is inspired and gives the female lead, Gyu-won, a strong will to live. Seung-won pushes for Seo-yeong as the lead but Je-ha believes she suits the supporting character, Jung-hwa. However, Seung-won reveals that the investors and Agent Go will only agree to the main lead which means it is already decided. They simply hold auditions for the optics. As expected, all the applicants are over the top. Da-eum shows up with a subdued performance that wins over everyone. She runs off right when the male lead, Jung-woo, arrives. We learn that he was the lead in Je-ha's first film, 'The Lonely People'. Je-ha goes after Da-eum as he is conflicted. He points out that she could die in the middle of production but she claims it would help the remake go viral. He is uncomfortable about using her in such a manner. She tries to convince him that she is the perfect Gyu-won. He is her only chance to become an actor and she doesn't want to die with regrets. Meanwhile, Agent Go signs Seo-yeong for a Hollywood film. Seung-won is at his wits' end and decides to keep Da-eum as an understudy in case they cannot convince Seo-yeong. But he is in luck as Jung-woo and Seo-yeong want to do the remake together. In fact, she forces Agent Go to accept the project. Go gives in but is furious when Je-ha offers the supporting role. She calls him out for abandoning Seo-yeong when she needed him. A flashback shows a news outlet spotting Je-ha and Seo-yeong together. To save her from potential backlash, Je-ha declares that they are not dating and breaks up with her. Seo-yeong, who is ready to go public with him, is heartbroken. At present, Je-ha cannot stop thinking about Da-eum and feels like her life is in his hands. The AD also reveals that Gyu-won feels hollow and they need to give her ambition apart from saving the suicidal male lead, Hyun-sang. Je-ha consults Da-eum again and she reveals that her dream is to make movies so her loved ones can watch them when they miss her. She once again pitches for herself and claims she knows what it is to live every moment. She visits her dad next and requests to be an outpatient. Since she had that attack, he has refused every time and refuses again. She points out that her mother died alone in the hospital and she doesn't want that. Back to Je-ha, he meets with Investor Han and promises a hit remake. But Han doesn't care about the film. He wants to sell the story behind the film – Du-young made the original with his alleged mistress and the world saw it as a tribute to his dead wife. And the remake is now being made by his son. It cuts to Da-eum passing Round 1 of the auditions. She celebrates with her friend and runs away from the hospital. Round 2 is an interview with Je-ha. He asks what drove Da-eum to be an actress. Her mother never found her dream and neither did she. While searching for it, she reached where she did. Je-ha can relate as that is how his mother ended up writing the 'Love in White' script. At the end of Our Movie Episode 2, Da-eum brightly tells Je-ha to put his faith in her. In return, all he wants from her is not to die. The Episode Review Our Movie Episode 2 is another strong chapter and we have a feeling that this just may be one of the best melodramas of the year. Yes, we might be getting ahead of ourselves but this K-drama has set up a pretty strong foundation. The dialogues are philosophical and inspirational but not too dull and didactic. The drama is heartwrenching when focusing on Da-eum's desperation but exciting and spicy when it shifts to the movie-making, such as Seo-yeong's back story and Investor Han's motives. The camerawork is stunning and each shot feels like a representative of the corresponding character's mindset. Jeon Yeo-been brings Da-eum's regrets and dreams to the forefront, allowing viewers to walk alongside her and empathise with her. And then there is Namkoong Min, who is tapping into a whole new persona that we haven't seen so far. His Je-ha is blunt and seems to judge a book by the cover. He is flawed and pretty stubborn about sticking to his views. But what makes him so endearing is how he is constantly flustered by Da-eum, who slowly peels down his walls without anyone realising. If Our Movie hadn't been a tragic melodrama, Je-ha and Da-eum's dynamic would have been perfect for a 'sunshine and grumpy sunshine protector' trope in a rom-com. Previous Episode Next Episode Expect A Full Season Write-Up When This Season Concludes!
