Christmas Disease: The Rare Bleeding Disorder Explained
Contrary to its festive name, Christmas Disease is a rare inherited bleeding disorder. Learn about its history, symptoms, and how patients can lead healthy lives with proper treatment.
Category : Search result: rare genetic condition
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.
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.
Samia Longchambon's 20-year Raynaud's disease secret
Coronation Street actress Samia Longchambon opens up about living with Raynaud's disease for two decades. Discover her coping tips and how she manages the circulation condition.
Experts: No Evidence Gut Microbiome Causes Autism
Leading scientists refute claims that gut bacteria cause autism, urging a shift in research focus towards genetics. Discover the facts behind the debate.
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.
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.
Adam Henson reveals daughter's genetic condition diagnosis
BBC Countryfile presenter Adam Henson opens up about his daughter's genetic condition diagnosis and how it's changed his family's perspective on life and farming.
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.
Child's battle with rare disease stealing her ability to walk
The heartbreaking story of Isabelle Tate, a young girl from England fighting Charcot-Marie-Tooth disease, a rare genetic condition threatening her ability to walk and enjoy a normal childhood.
Teen's death from rare Charcot-Marie-Tooth disease
The heartbreaking story of Isabelle Tate, a vibrant teenager whose life was cut short by the little-known genetic condition Charcot-Marie-Tooth disease, sparking urgent calls for greater awareness and research funding.
Daughter, 21, dies after battle with rare neurological disorder
Isabelle Adora Tate's courageous battle against a devastating neurological condition ends at just 21, as her grieving mother pays emotional tribute to her 'beautiful warrior' daughter.
Daughter's rare condition breaks hearts daily
Exclusive: The heartbreaking story of a family coping with their daughter's rare Cri Du Chat syndrome, revealing the daily challenges and emotional toll of caring for a child with complex needs.
Woman speaks with Thai accent after stroke
A Hampshire woman developed Foreign Accent Syndrome after suffering a stroke, causing her to speak with a Thai accent despite never visiting Thailand. Medical experts explain this rare neurological condition.
Aaron Chalmers' son hospitalised with rare disorder
Former Geordie Shore personality Aaron Chalmers reveals his young son Oakley faces unexpected hospital procedure while battling rare genetic condition that requires ongoing medical care.
Mum's heartbreak as son battles rare chromosome disorder
Exclusive: Mother's emotional journey as her son battles rare chromosome disorder and the family's desperate search for answers in the UK healthcare system.
Mother's heartbreaking baby loss story to rare condition
Jade Millner shares her emotional story of losing two babies to Patau's syndrome and her campaign for better baby loss support in the UK healthcare system.
Anne-Marie reveals son's rare genetic condition diagnosis
Singer Anne-Marie opens up about her young son's harrowing health journey with a rare genetic disorder, sharing emotional details about hospital stays and the impact on family life.
NHS screens thousands for hidden genetic disorder
The NHS is rolling out a groundbreaking genetic testing programme to identify thousands of Britons with undiagnosed hereditary haemochromatosis - a dangerous iron overload condition that can cause organ damage if untreated.
Girl's constant hunger battle with rare genetic condition
Two-year-old Ivy's constant hunger battles a rare genetic disorder called Prader-Willi syndrome, leaving her parents in a 24/7 vigil against life-threatening complications.
Baby survives rare twin absorption condition
A newborn's swollen belly revealed an extraordinary medical mystery - doctors discovered he was absorbing his twin sibling in the womb in a rare condition called fetus in fetu.
America's Most Inbred Family: The Whittaker Story
An investigative journey into the lives of the Whittakers, known as America's most inbred family, uncovering their isolated existence and the genetic consequences of generations of intermarriage.
Netflix Star's Rare Condition Could Cause Blindness
Love Is Blind's Danielle Ruhl reveals her rare Ehlers-Danlos Syndrome diagnosis and how it threatens her vision, sharing an emotional journey of invisible illness awareness.
Woman wakes from coma speaking fluent French
In an extraordinary medical case, Lisa Millar from Largs, Scotland, awoke from a two-week coma speaking fluent French despite barely remembering the language since school. Doctors are baffled by this rare phenomenon of Foreign Accent Syndrome.
Britain's only patient with ultra-rare disease
Exclusive story of Dean Sims, the solitary UK case of Mandibuloacral Dysplasia, and his extraordinary journey through the healthcare system.
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