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Beyond politics: the reality of living with a rare disease

It was Rare Disease Day last week. Exciting developments for Superficial Siderosis included Living with Superficial Siderosis' deputation to Capitol Hill for research funding and another one thousand pounds presented to Dr Michael Levy for his important research (with thanks to the generosity of those who support The Silent Bleed). More to follow on both of these happy events.

On the same day, Twitter was alive with an announcement from UK Health Minister, Nicola Blackwood, which has potentially huge implications for those with Superficial Siderosis in England.

She promised that NHS England would provide each person with a rare disease:

  • a responsible person to co-ordinate care

  • an alert card with details, treatment plan and details of the responsible person for when someone is admitted to an Accident and Emergency department, for example

  • a smooth transition from paediatric to adult care

The announcement was haled as a major development but in reality, these plans have been in the pipeline for a few years. The good news is that these points will soon become a part of the statutory responsibilities NHS England must deliver to each patient with a rare disease.

The UK Strategy for Rare Diseases was published in 2013 and after a number of responses and reports by working groups and charities, an implementation plan was published by NHS England in January 2018. Three million people are affected by between five and eight thousand rare diseases in the UK - that's five or less people in every ten thousand.

So the objectives of the plan are to:

  • 'facilitate earlier diagnosis and intervention'

  • 'Improve care coordination'

  • 'promote research'

taking into account where lives and money can be saved through better procedures and if appropriate, centralised care.

But beyond the politics, what should this mean for patients? What's the situation now?

As a charity, we've heard from people around the UK who've struggled to:

  • find a competent physician, as their local one has barely heard of the condition, let alone a specialist

  • get a correct diagnosis

  • access the right kind of equipment and expertise required to aid the right diagnosis

  • get treatment - for example, whilst deferiprone is available on the NHS, it needs to be applied for through an Individual Funding Request, which has often been refused

  • receive consistent care, juggling a number of specialist departments with no one person having oversight

The common effects of superficial siderosis include impaired cognitive ability and loss of neural reserve (a human's ability to keep going when under unusual strain). Add to this the other symptoms which include pain, shaking, sight problems along with hearing, balance and bladder control and the patient has little left to fight the medical system with. Even if they have an advocate, the information about Superficial Siderosis that has become more readily available in the past few years, is still a lot to take on board and challenge a qualified doctor with.

So where does this leave patients with Superficial Siderosis in England? At the moment, it's a promise that plans are in place to provide them with a specialist coordinator. What this means in real terms and how long it's going to take to come into effect, however, remains to be seen.

Let's not forget that care providers may include:

  • sight and hearing specialists

  • a GP

  • pharmacists

each prescribing their own care paths and with this comes the risk of contraindications, so it's impossible to ensure safe, effective, efficient care for each patient without proper oversight and an alert card scheme. These promises can't be delivered too soon.

NHS Scotland published their own implementation plan 'It's not rare to have a rare disease' in 2014 and although it mentions coordinated care, does not specifically mention each patient having a specific coordinator. Wales' plan which runs along a similar vein, can be found here.

What are the implications for the rest of the world?

NHS UK's intention is to become a rare disease trailblazer. Of course, as with any government, there can be inconsistencies between promise and delivery and arguments surrounding the efficacy and efficiency of universal healthcare aside, it will be interesting to see how the UK Government turns its intentions into practice on ground level. A functioning model has to be a good thing for those championing the needs of rare disease patients elsewhere in the world.

We'll keep you updated.

In the meantime, if you have further information or if we've missed something, please get in touch.

Further reading: Rare Diseases UK are an excellent source of information, including up-to-date news on the UK Government's rare disease plan.

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