Family's £8M Fight to Cure Daughter's Rare 'Frizzle' Disease
Everly Green, 8, is a prisoner in her own body due to rare FRRS1L. Her family is raising millions to develop a gene therapy cure after big pharma deemed it unprofitable. Read their story.
Category : Search result: rare genetic illness
Girl, 8, trapped in own body by rare 'Frizzle' disease
Everly Green, 8, is a prisoner in her own body due to rare FRRS1L. Her family is raising millions to fund a cure after big pharma deemed it unprofitable. Read their story of hope.
Father and son die from same rare genetic syndrome
A mother from Kent shares her heartbreaking story after losing her husband and son to Alagille Syndrome. She now runs a bereavement group to support others. Read her powerful message.
Father and son die from same rare genetic heart syndrome
A mother from Kent speaks out after her husband and son died from Alagille Syndrome, a rare genetic disorder. She now runs a bereavement group to support others. Read her story.
Jesy Nelson twins diagnosed with rare genetic disease SMA
Pop star Jesy Nelson reveals her newborn twins have spinal muscular atrophy. Learn the early signs of SMA Type 1 and why early diagnosis is crucial for treatment.
Jesy Nelson twins diagnosed with rare genetic disease
Pop star Jesy Nelson reveals her newborn twins have spinal muscular atrophy. Learn the early warning signs of SMA Type 1 and why early diagnosis is crucial.
Girl, 6, paralysed after surgery for rare spinal condition
A mother's story of her daughter's rare spinal AVM diagnosis and the life-saving surgery that left her paralysed. Follow Sofia's journey of rehabilitation and hope.
Girl, 6, paralysed after surgery for rare spinal condition
Sofia Hill, 6, was diagnosed with a rare genetic disorder. Life-saving surgery left her paralysed. Her family shares their story of hope and intensive rehabilitation.
Jesy Nelson's twins diagnosed with Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her twin daughters have SMA, a rare genetic condition. Learn about the symptoms, treatments, and the urgent call for UK newborn screening.
Jesy Nelson's twins diagnosed with Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her twin daughters have SMA, a rare genetic condition. Learn about the diagnosis, treatment, and the urgent call for UK-wide newborn screening.
Jesy Nelson's twins diagnosed with rare SMA disease
Former Little Mix star Jesy Nelson reveals her newborn twins have SMA Type 1. Experts explain the crucial early warning signs of this rare genetic condition that all parents should watch for.
Jesy Nelson's twins diagnosed with rare Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her six-month-old twin girls have been diagnosed with severe Type 1 Spinal Muscular Atrophy (SMA). Learn about the symptoms, life expectancy, and NHS treatments for this rare genetic condition.
Girl, 4, in Hospital with Rare Brain Condition After Flu
A father from Corby issues an urgent warning after his healthy daughter, Sienna, 4, was diagnosed with Acute Necrotising Encephalitis following the flu. She faces a long hospital stay, missing Christmas.
Genome Sequencing Speeds Up Rare Disease Diagnosis in Kids
A breakthrough NHS study reveals whole-genome sequencing provides diagnoses for rare genetic conditions two years earlier, offering families crucial answers and access to care. Read the inspiring story of three-year-old Nathaniel.
Genome sequencing helps diagnose rare child condition earlier
A breakthrough NHS study reveals whole genome sequencing is diagnosing rare genetic conditions in children two years sooner, transforming care for families like Nathaniel's in London.
The £250k-a-year fight against an invisible illness
At 26, Caitlin Magagna battles cystic fibrosis, an invisible genetic condition. Her story reveals the high costs and daily struggles, offering hope with new treatments. Discover her journey.
Olivia Attwood 'Defeated' by Mystery Illness
Loose Women star Olivia Attwood reveals she's been ordered to rest for 24 hours by doctors after a mystery illness forced her to pull out of the ITV show. Get the latest health update.
25-year-old chooses assisted dying after rare illness
Annaliese Holland, 25, shares her decision for assisted dying after a lifelong battle with a rare autoimmune disorder. Read her powerful story of pain and peace.
UK boy is only person in world with deadly condition
Oli-Jay Morris, 2, is the only known person with a unique gene mutation. His family are fundraising £14,000 for a personalised treatment plan to save his life.
Terminal teen's final wish granted with Gulf baptism
Caden Speck, 18, battling rare brain cancer, fulfills final wish with emotional baptism in Gulf waters. Community rallies around teen in moving ceremony.
Dog Illness Warning for November Woodland Walks
Vets warn dog owners about Seasonal Canine Illness, a serious condition most common in November after woodland walks. Learn the symptoms and how to protect your pet.
Mum's schizophrenia led to toddler's swing death
A mental health expert explains how schizophrenia tragically distorted a mother's reality, leading to her toddler's death on a park swing. A heartbreaking reminder of the urgent need for mental health support.
Mark Riddell's tearful reveal about daughter's rare disease
Rugby league star Mark Riddell breaks down discussing daughter Ava's Ogden Syndrome, affecting just four children in Australia. Read his inspiring family story.
Hitler's rare genetic sexual disorder uncovered
New DNA analysis reveals Adolf Hitler had Kallmann syndrome, a rare genetic condition impacting puberty. Discover the findings and what it means.
Boy, 4, diagnosed with rare childhood dementia
A Swansea mum is in a desperate race against time after her four-year-old son Tate was diagnosed with Sanfilippo Syndrome, a rare and terminal childhood dementia.
Ruth Wilson reveals rare disease diagnosis after 5-year struggle
Emmy-winning actress Ruth Wilson opens up about her debilitating mystery illness and the frustrating five-year search for answers that led to a rare disease diagnosis.
104 Schizophrenia Genes Identified in Major Study
Groundbreaking research from Edinburgh and Dublin universities identifies specific genes strongly linked to schizophrenia risk, paving the way for new treatments and early detection methods.
UK toddler first in world with unique genetic condition
In an extraordinary medical breakthrough, 19-month-old Oscar Sparrow from West Midlands has been identified as the only person worldwide living with a never-before-seen genetic mutation, offering new hope for rare disease research.
Bullied for weight: Teen's rare genetic disorder revealed
A mother reveals how her daughter endured cruel bullying for years before doctors discovered her weight struggles were caused by rare Bardet-Biedl syndrome, exposing the hidden reality of genetic disorders.
Cancer detection breakthrough spots genetic risks early
Groundbreaking research reveals new method to identify cancer-causing genetic changes early, potentially revolutionising preventative care and saving thousands of lives through timely intervention.
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