Defeating the diagnostic odyssey

The Conservative life peer reflects on her experiences of Ehlers–Danlos syndrome and what the government can do to better support rare disease treatment.

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A big frustration during my time as Minister for Rare Diseases was that, despite so much genuine progress, too many rare disease patients today face challenges I recognise from my own experience growing up.

My diagnosis took 30 years. This may seem shocking but it is far from unusual. For the one in 17 people in the UK who will be affected by a rare disease at some point in their lives they can expect to wait an average of four years for a diagnosis.

For many it is much longer. During that time patients – like me – are often bounced from specialist to specialist, having test after test. Traipsing from appointment to appointment, feeling ill, waiting hours to be seen in clinics, having painful, invasive tests that make you feel worse but don’t give you any answers is soul destroying. This is called the diagnostic odyssey and it must be eradicated from our health system.

We need four things to make this happen: well-funded research and clinical trials, better training for clinicians, better access to treatment and better coordination of care.

Of course, I am proud that UK research and innovation into rare diseases is truly world leading. During the 100,000 Genomes Project, one in four rare disease participants received a diagnosis for the first time and that project has now been extended to sequence a further 5 million patients.

It will still offer diagnosis for rare diseases patients but the new Genomic Medicine Service means genomic sequencing will be truly integrated into NHS care. Just this month, NHS England agreed to fund a new gene therapy Luxturna which treats a rare inherited eye disorder and prevent blindness.

As we approach the Budget, the Chancellor should increase the NIHR budget, which funds many clinical trials, and the Health Research Authority, which approves clinical trials. Likewise, investment in key medical research programmes that are already getting rare diseases patients answers, like Genomics England and recently announced pilots of Whole Genome Screening of critically ill children in the NHS, must be protected. It will also be crucial that the new Innovative Medicines Fund is well designed to ensure it delivers better access to treatments.

For too many rare disease patients, though, getting a diagnosis and ongoing access to the right care can become so complex it takes over your life. NHS England has started to roll out care coordinators for rare disease patients but there is some way to go before the benefit is felt by patients.

We should explore additional options like more use of Multi-Disciplinary Teams, digital solutions and other models which have all been proven locally but not spread nationally. There is no time to waste. The human and financial cost of uncoordinated care is enormous and applies equally to patients with complex co-morbidities as it does to rare disease patients.

We must also remember that many patients remain undiagnosed for a long time. During that period better training amongst clinicians, especially primary care, is critical but wider services including schools, councils and DWP also need to respond appropriately. When I was fourteen I tripped over during a family outing. It wasn’t a big deal but the resulting bruises all down one side of my body were spectacular (easy bruising I now know is a symptom of my condition).

When my PE teacher saw them, I was taken aside and asked if “everything was alright at home”. I laughed in confusion. I had no idea what she was talking about – my home was  loving and safe. I didn’t know that my frequent absences from school caused by illness and trips to the doctor had been flagged as a potential abuse.

In the end the school realised they had got it wrong in my case but up and down the UK too many families caring for children with rare and undiagnosed conditions still contend with the same misunderstandings from schools and councils.

Caring for a rare disease patient can have enormous consequences for the whole family, more support for the carer and patient’s family is needed. At 17 I was told I was unlikely to ever go to university or hold down a job. My first job, my election to Parliament, serving as a Health Minister – every milestone has felt like a bonus.

Today I am diagnosed and stable thanks to brilliant, kind NHS clinicians. I know I wouldn’t be here without my extraordinary family – and I know there were times of real struggle. I have had heart-breaking conversations with families about the true impact of trying to hold their families together as they navigate the care system, access diagnosis, find elusive treatment.

Of course, we need investment in cutting edge medical research and continued improvement in access to treatment. But rare disease services will only really work when we train up clinicians, coordinate care and support families and carers of rare diseases patients.

That is why when I was Minister, I launched the National Conversation on Rare Diseases – to ensure government and the NHS heard first hand from patients, clinicians, rare disease charities and industry. The survey had over 6,000 responses and provides an important evidence base for getting rare disease care right.

Baroness Nicola Blackwood authored this article independently and did not receive any payment or instruction from Pfizer.

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