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 disorder
Newborn's fight against rare HLH disease after sudden fever
A newborn baby's life turned upside down by a rare autoimmune disorder. His parents share their story and hope as he prepares for a bone marrow transplant. Read their emotional journey.
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.
Teen's headaches lead to rare blood disorder diagnosis
Millie Fairley, 13, from Eastbourne, needs a stem cell donor after being diagnosed with aplastic anaemia. Her family and DKMS urge people to register as donors.
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.
Celine Dion's Thanksgiving health update
Celine Dion delivers a positive health update on Instagram, sharing a heartfelt Thanksgiving message with fans while battling Stiff Person Syndrome. Discover her inspiring 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.
Woman's mastectomy at 15 for 90% cancer risk syndrome
Georgie Hartland, 20, had a mastectomy at 15 after being diagnosed with Li-Fraumeni Syndrome, giving her a 90% lifetime cancer risk. She shares her journey to raise awareness.
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.
Footballer beats rare paralysis to run marathons
Relly Ladner was told she might never walk again after Guillain-Barré syndrome. Defying odds, she now runs marathons. Read her incredible recovery journey.
Hitler DNA analysis reveals genetic disorder
New DNA analysis of Adolf Hitler confirms a genetic disorder affecting his sexual development and suggests neurodiverse conditions. Read the full story on the Channel 4 documentary findings.
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.
Mum with rare dementia forgets children's names
The devastating story of Sarah, a mother with rare dementia who can no longer recognise her own children, as her family fights for access to revolutionary treatment that could save her.
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.
Boy, 11, wakes up unable to walk or speak
A mother's terrifying ordeal as her healthy son suddenly develops rare neurological condition ADEM, sparking urgent NHS investigation into childhood illness.
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.
Rare 50p Coin Sells for £113 at Auction
A scarce 2009 Kew Gardens 50p coin has sold for over double its face value in a recent auction, sparking renewed interest in coin collecting across the UK.
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.
US Bets Big to Break China's Rare Earth Monopoly
The Biden administration makes unprecedented investments in Western rare earth companies to secure critical minerals and challenge China's market dominance in green technology.
Woman's ribs pop out when she laughs due to rare condition
A young woman from Manchester lives in constant pain with a rare condition that causes her ribs to dislocate when she laughs, coughs or even breathes deeply, leaving her unable to work or enjoy simple pleasures.
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.
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