Baroness Blackwood: 6% of the population will be affected by a rare disease at some point in their lives - A rare disease isn’t as 'rare' as it first sounds

Posted On: 
28th February 2019

To mark Rare Diseases Day, Health Minister, Baroness Blackwood has announced the National Genomics Healthcare Strategy which will ensure that all rare disease patients in the NHS get earlier diagnosis, more targeted treatment and better care, as well as revolutionising the diagnosis and treatment of other diseases, such as cancer.

Our work on rare diseases is emblematic of the Government’s new NHS Long Term Plan, which harnesses the power of new technologies, such as genomics and AI, and pairs them with an ever greater focus on providing joined-up, personalised care for every patient.
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PA Images

Imagine being passed from pillar to post, desperately unwell, but nobody knowing what is wrong with you or knowing how to fix it. That’s what happened to me and I don’t want it to happen to anyone else.

I have a rare disease. Yet actually a rare disease isn’t as ’rare’ as it first sounds. There may only be a handful of people with a certain condition but there are 1 in 17 people, or almost 6% of the population, will be affected by a rare disease at some point in their lives. This equates to approximately 3.5 million people.

To mark Rare Diseases Day I have announced a new National Genomics Healthcare Strategy – this will ensure that all rare disease patients in the NHS get earlier diagnosis, more targeted treatment and better care, as well as revolutionising the diagnosis and treatment of other diseases, such as cancer.

My rare disease is a genetic condition called Ehlers–Danlos Syndrome (EDS) which led to Postural orthostatic tachycardia syndrome. This means I have heart problems, severe joint and muscle pain and chronic migraines.

I was undiagnosed for 30 years and went through all the usual experiences of the diagnostic odyssey – getting very sick from childhood and being referred to many doctors who each tried their best ordering more and more complicated and invasive tests.

Finally, a wonderful neurologist with experience of EDS realised what had been going on and referred me to a specialist who diagnosed me in 20 minutes. After all those years, 20 minutes was all it took. It was life-changing.

Over the next 18 months I acquired an army of specialists. Initially it was a disaster. As they started trying to find the right medical regime for me I got much, much sicker and I found trying to coordinate all the tests and appointments and new medications – while still working - impossible. My heart developed a mind of its own and I do not think there is a flat surface in Parliament I have not collapsed on.

Then the NHS stepped in and saved me. The occupational therapist in Parliament, my GP and the whole team at University College London (UCL) Autonomic Unit literally picked me up and held my hand – helping coordinate my care and getting me the support I needed at work.

Gradually, the pieces fell into place and I have clawed my way back to stable health, with the support of our wonderful NHS. I will not pretend it was easy. It was not. And there were many setbacks along the way. I do know I am incredibly lucky.

But I know my battles are nothing compared to many people across the country.

That’s why today’s announcement is so important. It will also mean every person with a rare disease will have a dedicated person responsible for coordinating their care. All patients with a rare disease will be given an ‘alert card’ - including information about their condition, treatment regime and contact details for the individual expert involved in their care. We will also transform the way teenagers with rare diseases are cared for, so their transition to adult services is as seamless as possible.

Our work on rare diseases is emblematic of the Government’s new NHS Long Term Plan, which harnesses the power of new technologies, such as genomics and AI, and pairs them with an ever greater focus on providing joined-up, personalised care for every patient.

I see a future where we diagnose conditions before symptoms occur. Where we deliver personalised treatment, informed not just by our general understanding of disease but by our own personal medical data.

Over the coming months I will be working with our brilliant NHS, our world leading scientists, and most importantly, patients, to make these plans a reality.

 

Baroness Blackwood is Parliamentary Under-Secretary of State for Health.