Everything that the aHUS alliance does and writes about relates to the “Rare Disease 6″.
The Rare Disease 6 are the six issues and challenges that those with rare diseases face , not just those with aHUS. For each clinical strategies are needed to overcoming them.
The Rare Disease 6 are:
- research into the disease
- a quick and accurate diagnosis
- finding and accessing a treatment for it
- having specialised and coordinated care
- availability of information for patients about their illness
- having a disease Expert Centre (Center)
Of all the six issues the least understood, and most frequently misunderstood, is the disease Expert Centre. Yet they are so vitally needed. Some may say that such centres are crucial to achieving excellence in the other five areas.
There are several reasons for this lack of understanding , not least that the term aHUS Expert Centre, (or alternatives like Centre of Expertise or Centres of Excellence) is never used by such clinical organisations, which could be designated as Expert Centres.
So aHUS patients may not be able to easily distinguish the “expert” from the “standard”. Also such Centres would not be confined to just aHUS, and may be shared by others with other thrombotic microangiopathies (TMAs) conditions such as HUS, TTP and C3/MPGN/DDD, or more generic rare diseases.
On top of that there has traditionally been a different culture between the USA and Europe towards this kind of classification. In the USA individual clinician may be put forward as having specialist knowledge rather than the hospital ,or Patient Organisations may be partner with certain hospitals and create specialist centres for their diseases.
The Cystic Fibrosis Foundation in the USA has done that around the country by creating CF Centres of Excellence. The CFF’s model was the basis for the creation of the first Rare Disease Centre of Excellence by the Children’s National Health System in partnership with NORD in 2017. More such centres are planned.
In Europe the term Expert Centre features more prominently in Rare Disease circles and for many years EURORDIS has promoted such structures and institutions using that term. In the past twelve months or so, this has culminated in the launch of what are known as European Reference Centres with a European Reference Centre Network among EU nations .
Of particular interest to aHUS patients is the “TMA Group” which falls under the umbrella of ERKNET to create a network of national / regional aHUS Centres, which would include some, or all other renal TMAs.( Click here for more information on ERKNET)
The only equivalent in the USA is the newly emerging TMA Consortium based at Ohio University but now encompassing other specialist centres in other states. This has grown from nothing to something of significance for aHUS patients in just a couple of years. ( Click here for more information).
However it is in Europe that more has been done to define what an expert centre actually is, although no official definition has yet resulted. EURORDIS has tried to describe what one may look like by identifying some common characteristics. The alliance has used these to make the composite list below of what to expect to see when looking for an aHUS Expert Centre. Such a centre:
- Has professional qualifications with particular specialist knowledge of aHUS which are not dependent on one person;
- Provides coordinated care for aHUS through a multidisciplinary approach;
- Makes arrangements for aHUS child to adult transition;
- Engages with people with aHUS placing patients at the centre of what it does;
- Has a sufficient number of patients , a critical mass, to work with;
- Does aHUS clinical research and supports aHUS Patient Registries at international level;
- Works with patient organisations to improve information and support and empower patients in their care;
- Provides aHUS education and training for healthcare professionals;
- Shares knowledge with other aHUS Expert Centres in formal networks;
- Develops harmonisation of diagnosis and treatment protocols.
If a clinical organisation or hospital ticks all these boxes then the aHUS patient accessing it has the benefits of being treated by an aHUS expert centre.
But even if an expert centre exists how can it be assessed as being of higher quality of service than standard?
Again EURORDIS and other European institutions have attempted to provide measures to assess quality. These are given below split between what has been defined as soft and hard values.
- cooperate with patient organisations
- patient orientated approach
- improved outcomes
- improved atmosphere
- improved quality of life
- avoiding unnecessary complications
- awareness and knowledge dissemination
- information provision to local centres
- time to get a diagnosis
- waiting time
- genetic consultancy
- multidisciplinary approach
- cooperative with other centres
- care guidelines and recommendations
- quality control
- international and national networking
- economic assessment
The alliance conducted an internet search for aHUS Expert Centres and has begun a global list of “aHUS centres” it has found (click here for more information)
Whilst more is now known about the concept of aHUS Expert Centres, the alliance still needs to gain more understanding and so will begin a study of centres which would be acknowledged globally as centres of aHUS expertise and delve further into this vital aspect of aHUS patient care.