A Patients and Families Support Group

A UK website about atypical Haemolytic Uraemic Syndrome (aHUS)

aHUS is a very rare disease

aHUS is a very rare disease

Later on this week Earl Howe will be announcing the UK Strategy for Rare Diseases. A rare disease affects 1 in 2000 of the population; aHUS affects 1 in 300,000 and so it is a very rare disease, and so the strategy will have impact on aHUS patients. What will this be?

At the moment we do not know but throughout the consultation period which fed into this strategy six areas were focused on:

RESEARCHmedical/clinical research tends to focus on the more common conditions which are more likely to attract more funding and benefit more people. Investment in commercial rare disease research is risky because the costs will have to recovered from a small “market” at a high end price. Ultra-orphan status can protect and incentivise companies to undertake rare disease research. Often rare disease research depends on researchers, like Prof Goodship, who are driven towards getting to the nub of an illness. Sometimes research is hindered by the limited number of patients who by definition are rare! Genetic science has given much hope to those with rare diseases and support is needed to turn discoveries into patient benefit.

DIAGNOSIS   – invariably getting a diagnosis is very difficult for rare diseases and a recent aHUSUK news item discussed how difficult aHUS is to diagnose. aHUSUK is trying to do something about it with its patient card but is there more the NHS can do? Speeding up the process from diagnosis to treatment for aHUS patients makes a significant difference to organ function protected and recovered.

TREATMENTentering an appropriate care pathway is not that easy for those with rare diseases, as is accessing effective therapies, as aHUS patients  have found with our experience this year in trying to get eculizumab for all who need it for as long as they need it . The time it takes, from discovery of a safe and effective therapy to its application, can be  a decade or more. Some re engineering and acceleration of that process must be possible.

EXPERT CENTRES–  clearly, not all clinicians can know everything and that is a particular problem for those with rare diseases. Designated expert centres can develop and sustain the knowledge needed to support the effective diagnosis and treatment of a rare disease. This does not mean that patients have to travel to centres, because with iT communication developments this can be done  locally in a partnership between the centre and the patient’s local clinician. As with access to the drug an aHUS Centre of Excellence is lagging behind where it could be now if AGNSS’ recommendation had been accepted back in 2012.

INFORMATION– on diagnosis aHUS patients inevitably rely on their treating clinician for knowledge about their illness, its prognosis and its treatment. Rare diseases are not well known nor understood compared to the common illnesses, which most people are reasonably familiar with. There is no doubt that the internet has enabled more information to be provided and research has provided more answers. Patient Organisations can play a part in helping patients understand their illness and can do that in partnership with the NHS. aHUSUK has, in the short time it has existed, contributed a bit to providing understandable information about aHUS in the UK  and continues to look for ways to do it better.

SPECIALISED COMMISSIONING – this year aHUS patients perhaps more than many with rare diseases have understood the difficult issue about getting specialised commissioning by the NHS for their illness. AGNSS recommended a national specialised service because of what was happening to aHUS patients without a “specialised” status. Care was piecemeal, unjust and opaque. Patients were dying or being left to descend into a life on dialysis, whilst some were accessing eculizumab, recovering and getting on with their lives. Even with the English Interim Specialised Service it is clear that  aHUS patients are now cared for in an equitable and increasingly more structured way; without the worry about where they live. aHUSUK believes that specialised treatment of aHUS is needed on a sustainable basis throughout the UK . To that end aHUSUK will work with the NHS of the Four Nations , NICE, AWMSG, and SMC   to get specialised treatment for all aHUS patients.

Rare diseases can affect us all, the featured photograph shows David Cameron with his son Ivan who died in 2009 and who had a rare form of epilepsy. The photo appeared in a story in The Daily Telegraph about the Prime Minister and a rare disease research centre in Oxford. The article which illustrates some of the points discussed above  can be read by clicking here.


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