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.
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 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.
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.
What is haemophilia?
Haemophilia is a rare, inherited bleeding disorder in which the blood does not clot properly.
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.
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.
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.
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.
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.
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.
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