Balancing budget and patients’ needs
John Stewart, Director of Strategy and Policy for Specialised Commissioning, NHS England, discusses tough decisions facing the NHS.
Immediate support is vital for newborns with rare diseases
Thousands of parents each year experience the unimaginable anxiety of learning their child has a rare disease. It’s essential that families provided with the right practical and emotional support as they come to terms with the reality of their situation.
UK Health Charity crowdfunded a specialist nurse
The Neuro Foundation, the national charity for the rare genetic condition, Neurofibromatosis (known as NF) has crowdfunded the salary of a new specialist nurse to support the NHS.
Diane's scleroderma means her body is attacking its own healthy tissue
Diane lives with scleroderma a rare autoimmune condition affecting just 12,000 people in the UK. Scleroderma pronounced [skleer-uh-dur-muh] is a long-term incurable condition that is life limiting and can be life-threatening.
A focus on Hypoparathyroidism
Many people have heard of the thyroid gland, in fact, you may even know people with a thyroid issue but have you have heard of the parathyroid glands? Or hypoparathyroidism?
Home is where healthcare should be
Given a chance, would you want to spend days in hospital or be cared for in the comfort of your own home? Natalie Douglas, CEO of Healthcare at Home, explains why a transition to care within the community would help us all.
Searching for answers and new treatments for BPAN
BPAN is a devastating rare disease that strikes young children. It is one of a group of progressive brain disorders associated with significant disability and premature death. Children’s charity
Action Medical Research
wants to work towards a cure.
Raising the bar in rare disease patient care
Dr. Larissa Kerecuk’s enthusiasm for the UK’s first Rare Diseases Centre for Children in Birmingham makes a compelling case for more patient-centred approach to care.
A novel treatment on the horizon for Plasminogen Deficient patients
Type 1 Plasminogen Deficiency (PD) causes inflamed growths on mucous membranes such as the eyes, nose and trachea. Until now, the only treatment has been excision.
Collaboration brings progress for CDKL5 deficiency disorder patients
Dr. Sam Amin, Research Associate in Paediatric Neurology at Bristol Children's Hospital, explains why early diagnosis and collaboration with patient groups is vital for patients with CDKL5 deficiency disorder.
Living with Gaucher disease
Emily Hyde* was diagnosed with Gaucher disease, a genetic condition caused by a missing or deficient enzyme after the birth of her first child in 1988.
Knowlege is power: medical research on rare diseases
Medical research has come a long way in the past few decades and momentum needs to continue in order to benefit the many millions of patients who suffer from incurable rare diseases.
Praise for the first Rare Disease centre in the UK
Doctors, Professors, patients and charities voice their appreciation for the pioneering new centre in Birmingham.
Patient groups: an unstoppable force for good
Patient groups are becoming increasingly important not only to those affected by rare diseases but in the advancement of treatments and research, too. Beverley Power, Secretary and a Trustee of CDH UK, shares her experiences.
Compassionate Use: A necessity not a nicety
Clearer terms of Compassionate Use are needed to ensure patients with rare diseases can access vital medication safely, fairly and as soon as possible.
CIDP: patient story and neurologist perspective
An under diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) is preventing many patients accessing treatment.
Progress has been made, but more needs to be done for rare diseases
It is now 3 years since the UK Strategy for Rare Diseases was launched.
Facebook’s been a lifeline living with Pulmonary hypertension
It took Sarah Marshall eight years to get a diagnosis of her condition, pulmonary hypertension (PH), in 2013. She talks about how it’s changed her daily routine.
Living with pseudohypoparathyroidism (PHP)
Harriet Macleod was diagnosed with PHP when she was just six years old. Now 23, she tells us about the challenges and how sport and shopping help her live life to the full.
What is haemophilia?
Haemophilia is a rare, inherited bleeding disorder in which the blood does not clot properly.
Rare Disease Day 2016
Rare Disease Day 2016 marks a year of significant progress in our understanding of many aspects of rare diseases, and how they affect the millions of patients and families living with the daily consequences of these conditions.
More NAIT research is needed
More research is needed before Neonatal Alloimmune Thrombocytopenia (NAIT), a potentially life-threatening disease, is screened for during pregnancy.
Inspired by Rare Disease
‘How do I live with a rare disease?’ is a question not just for the person directly affected but for their entire family. This is especially the case when the rare condition affects a child.
Patients must be at the centre of research into rare diseases
More than 30 million people across Europe suffer from a rare disease. Whilst scientific developments have led to improvements in diagnostics and treatments, patient care must remain a priority to ensure continued progress.
Life with a rare disease
Living with any chronic health condition can be demanding, but rare diseases bring a unique set of challenges for patients and their carers.
Swimming club boosts self esteem and self management of haemophilia
Healthcare professionals are turning to exercise to help boys with haemophilia potentially avoid complications in later life.
Overcoming the challenges of living with a rare disease
Deborah Lowe talks about how her family overcomes the challenges posed by her son Henry’s primary immunodeficiency disorder.
New trials and awareness could help tackle LSDs
Swift diagnosis and new trials could help people with lysosomal storage disorders.
New treatments for babies with rare liver diseases
Professor Anil Dhawan, Clinical Academic Group Co-Lead - Kings College Hospital explains that adult liver cells have the potential to help children with a number of rare, inherited diseases.
Aiding people with Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a rare, genetically inherited neuromuscular condition. It may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing.
Neuroblastoma - biggest cancer threat to the under fives
Lilly was just six weeks old when her parents received the devastating news that she had a rare and aggressive childhood cancer – neuroblastoma.
How Louise copes with Harry's rare disease
Louise Lawrence felt that baby Harry had a problem. Her persistence led to a diagnosis of Fragile X syndrome.
Tom’s story: the cruel reality of Duchenne muscular dystrophy
Tom has Duchenne muscular dystrophy, a rare and fatal condition that causes muscle weakness and a relentless deterioration in physical abilities.
Dealing with the limitations of the incurable disease Scleroderma
Scleroderma is a rare chronic autoimmune condition, involving the overproduction of collagen. This attacks bodily tissues and organs; causing hardening, scarring and reduced normal function of the affected areas, in some cases physical disability and even death.
New drugs to give babies with rare diseases a better start in life
Professor Georg Hoffmann explains how an orphan drug could offer a new treatment pathway for babies born with potentially fatal rare diseases.
Treatment can slow Cystinosis progress, but there is still no cure
Cystinosis affects 1 in 200,000 newborns every year and with proper follow-up treatment the disease is liveable.
New approach to care for patients with rare disease
Pioneering new centre in Birmingham leads the way in rare disease care Birmingham Health Partners, putting the NHS rare disease strategy into action.
UK strategy responds to needs of patients
Four nations of the UK have come together to recognise and respond to the needs of rare disease patients with a systematic approach.
How health psychology can help people with rare diseases
People living with a rare disease face many challenges in managing their condition, says Dr John Weinman, professor of psychology as applied to medicines at King’s College London.
The future for rare disease medicine commissioning
The development of medicines for rare diseases is hampered by limited patient numbers and stringent regulatory hurdles. Once these medicines are developed they must then overcome a series of further obstacles before patients can access them.
Increasing awareness is 'vital' in the fight against Duchenne muscular dystrophy
Understanding of rare diseases has improved over the last decade, leading to some significant and exciting breakthroughs says paediatric neurologist Professor Eugenio Mercuri.
Pseudomyxoma survivors: Dawn and Louise patient stories
In 2008 Dawn Green was given just three months to live. Eight years on, she’s still here and still fighting to raise awareness of pseudomyxoma peritonei.
Children living with Inherited Metabolic Diseases
Any parent of a young child will remember the heel prick test. For most, this blood sampling is a routine inconvenience for a newborn, but for some it’s a lifesaver.
Living with Spinal Muscular Atrophy
Improvements in care standards and charities such as SMA Support UK are helping those living with Spinal Muscular Atrophy live more fulfilling lives in the UK.
Alex and Sam's Story
Nine year old twins Alex and Sam Bolton are helping to raise awareness of children’s genetic disorders with the UK children's charity Genetic Disorders UK and their annual fundraising day, Jeans for Genes Day.
23 years since his mother’s death, Sean Hepburn Ferrer shares her legacy of hope
She was a movie star adored by millions, but when Audrey Hepburn lost her life to a rare form of cancer in 1993 her family’s experience, like many others’, was characterised by frustration and loneliness.
Breathe on: Congenital Heart Disease patient story
Daniel was diagnosed in utero, at my daughter Hollie’s 20 week scan, with what the cardiologists thought at the time was Hypoplastic Left Heart Syndrome. She was told the condition was the most severe congenital heart defect a child could have.
Helping children survive rare diseases
No other age group suffers more with rare disease than children but replacing rogue DNA is proving a valuable tool in the search for cures.
Breakthrough Research for CMN
UK scientists lead the way in care for Congenital Melanocytic Naevus.
Rare Diseases Videos
The first rare disease centre
Rare Disease Day 2017
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