Bones & Joints
Bones & Joints
Your chance to speak to experts on the rare heart and lung disease that's often misdiagnosed
Pulmonary arterial hypertension (PAH) is often confused with more common diseases like asthma, but can turn out to be a potentially deadly heart and lung condition. Chat to our expert panel on Twitter about PAH on Friday 4th May.
Matilda is one of 20 people, with her syndrome, in the world
Nine year old Matilda Hatton has Sensenbrenner Syndrome and is one of the patients taking part in the 100,000 Genomes project.
The rare condition that causes fits, and even death, in babies
Hypoparathyroidism can go undetected for years, and can even be misdiagnosed as psychiatric illness, but greater awareness and an available treatment can change or even save lives.
'Our bodies are genetically programmed to turn against us'
'We don't know what 'normal' feels like anymore. Most of us have never experienced good health. We have been ill most, if not all, our lives.'
Children with rare diseases find their lives disrupted by treatment
Centralised treatment for children with rare diseases looks set to end the misery of multiple different appointments.
Improve treatment options through early access to medications
Dr Michel van Harten, Head of Medical Affairs at myTomorrows, believes increasing patient access to developmental medicine needs support and describes how Early Access Programmes could help patients in need.
20 years ago ‘rare’ invariably meant ‘incurable’
How far have we come in the field of rare and genetic diseases since the 1990s?
Patients can now consult international experts
As many as 50 per cent of rare diseases are undiagnosed, but international collaboration using digital technology could reduce that figure in the future.
How the rare genetic disorder NAIT has affected my family
'A devastating brain bleed caused by NAIT (Neonatal Alloimmune Thrombocytopenia) while still in the womb, left my son with lifelong disabilities,' explains Gillian Magee.
Ella's Neurofibromatosis story
I am scared for what the future holds for me, but, as I told my support worker, “I can’t change it, so I will have to roll with it and do my best to have a good life.”
Rare disease research helps to 'join the dots'
Rare disease research takes time by virtue of the fact that patients can be few in number and scattered all around the globe.
Adjusting to life with Cushing's disease
"I wouldn't wish this on my worst enemy, but at the same time, Cushing's has brought me as much as it has taken away" says Sammy Harbut.
Making science work for rare disease patients
The UK can be a leader in rare disease research and NHS patients can reap the benefits.
Rare disease patients should not be disadvantaged
Rare Disease Day is major event across the globe. The main objective of the day is to raise awareness with policymakers and the public of rare diseases and their impact on the lives of patients.
Treating patients with their own - corrected - cells
When it comes to treating rare diseases, gene and cell therapy has come of age and the results are very promising.
Rare disease research sheds light on more common conditions
Rare diseases struggle to gain the interest of researchers and funders of research, but they often help understanding of more common conditions, opening new doors for therapy.
High costs to develop drugs that may only help a few people
With the NHS under unprecedented financial pressure it's more important than ever that new drugs developed to treat rare diseases are both clinically and cost-effective.
Quick action was crucial for Jaclyn's life with aHUS
Jaclyn Caisley went from being a 'normal person with a normal life' with no significant medical history, to living with a a life-threatening condition in just two weeks.
Revolutionary aHUS treatment reduces risk of kidney failure
A rare, and potentially fatal condition, aHUS, mystified doctors for years. Today, thanks to patient support, the outlook for sufferers is much more hopeful.
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.
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?
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.
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.
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.
Click for more information on these events:
Click for more information on these events:
Rare Diseases videos:
The first rare disease centre
Rare Disease Day 2017
Bones & Joints