Private Business Intermediaries

Rare diseases need better care on the NHS

26/10/2012 | By Sharmila Chauhan
Although the name suggests that ‘rare’ diseases are uncommon, the truth is this term includes about 5,000 different conditions and the number is rising each week as new conditions are identified. Rare diseases includes things like: motor neurone disease, psoriatic arthritis and Huntington’s disease and ankylosing spondylitis (AS). They are usually 80% genetic or rather they are hereditary – so if one or both parents are carrying the gene their child is more likely to have it.

A new report by influential think-tank 2020 Health highlights the growing problem of GPs missing or misdiagnosing such conditions.  ‘Forgotten Conditions: misdiagnosed and unsupported, how patients are being let down’ says that the focus is on treating a handful of major illnesses needs to be shifted towards developing systems for diagnosing and treating rarer diseases.
Currently many patients are left mis or undiagnosed for many years which can be not only distressing but can also impact on their treatment.

“Varying diagnoses and incorrect information given. It was only after the death of our youngest daughter at the age of 6 months that diagnosis was received.” Mother of a patient with Gorlin syndrome

“I have a genetic disease but was not diagnosed until I was 42 although I had attended a chest consultant/s regularly since the age of seven.” Patient with primary ciliary dyskinesia.

Even once diagnosed patients often find that they are not able to receive the care they need from the NHS:

“I have found that the lack of a multi-disciplined team of specialists in each region is impacting on the lives of young children and young adults every day. I have experienced having to fight for everything from equipment to medicine.” Said Carl Tilson who has Duchenne muscular dystrophy - Manchester, England

One such disease, Ankylosing Spondylitis (AS), which is a spinal condition that causes crippling back pain. The report highlighted that the average time between the onset of AS and correct diagnosis is eight and a half years. “proof that a lot of people are being let down by the NHS despite the fact we have the technology and expertise to improve diagnosing illness. 

“The conclusions of this report are sobering: there is still too much variation in care across the NHS, too little information on rare disease and not enough down to empower patients to look after themselves. A paternalistic approach by the NHS is unsustainable and unhealthy, and this needs to be considered alongside greater awareness of rare diseases in medical training.” Said 2020 Health CEO Julia Manning.

One of the key recommendations of the study were to improve childhood screening for such genetic diseases. Currently in the UK only five childhood diseases are screened for. In comparison, newborns in the United States are screened for over thirty diseases and those in Europe are screened for over twenty.

In our research of the private sector we found that, “every baby is examined on birth within first 24 hours and the examination is done by a consultant paediatrician,” said a spokesperson for the Portland Hospital – the leading independent mother and baby hospital in the UK.

“Screening is comprehensive and the consultant may request additional screening after the birth as necessary to ensure the highest chance of diagnosing any rare conditions close as soon as possible.”