The rare diseases plan wants to prevent that patient with rare diseases get lost between hospitals and consequently don't receive a timely diagnosis and treatment The plan was already introduced in 2013, but never took off. Uncertainty about responsibilities in Belgium and the competitive atmosphere between hospitals make it difficult to implement the plan. Which is why there is an urgent need for an umbrella organisation that can objectively and independently decide on the implementation of the plan.
Concrete policy proposals
On Thursday 7 November, the university hospitals and organisations dealing with rare diseases are organising a debate in the federal parliament between politicians, patients and experts. Every day, doctors see in their practice how more than half a million people with rare diseases have to spend too long looking for a diagnosis, for an experienced specialist or for appropriate treatment. On average the time to get a diagnosis for a rare disease is 4.9 years, but can often go up to more than 10 years.
This is a tough on the patients themselves, but also for their families. Rare diseases often lead to disability and are not seldom life-threatening. Most care providers have little or no experience. Although there are more than 7,000 different rare diseases, the European Medicines Agency (EMA) mentions that there is a minimum amount of scientific knowledge for barely 1,000 of them. During the debate, organisers will discuss concrete policy proposals with politicians.
Prof. dr. Marion Delcroix, chair of the council for rare diseases at UZ Leuven: “Our neighbouring countries have been working with national reference centres for rare diseases for years. France is the shining example: in 2004 they launched a first plan and have been able to update that four times already. In Belgium we came up with a plan in 2013 but this was insufficiently implemented. State reform certainly has something to do with this: instead of being a federal responsibility, some issues are now a separate regional responsibility. This made it very unclear as to who can decide on the recognition of an expertise centre. Regions have their own political interests and want to favour their own university or specialists for instance. It takes political courage to take decisions on this.”
Build experience
Because there is no umbrella organisation, there is also a feeling of competition between hospitals. In principle the rule is: whoever has the most patients with a particular disorder, will have the most experience and will provide the best care. But there are other important criteria when it comes down to rare diseases, such as the number of scientific publications, or a specific specialisation in an doctor. An independent body should determine those criteria on an objective scientific basis.
To free up money for new medication or psychological support, you first have to show that it works
prof. dr. Marion Delcroix
Prof. dr. Marion Delcroix: “Today, if a patient gets the diagnosis of a rare disease, you can't find anywhere online which hospital has the most expertise in it. Even the GP's are often not well-informed either. Usually, the patient will be treated in the hospital he initially went to for help. The doctor treating him might find an fascinating case and therefore does not refer the patient to an expert in that disease. There are currently extremely rare disorders that are being treated in a different wayr in the 8 Belgian university hospitals. This means that as a doctor you cannot perform relevant research or build up experience. To free up money for new medication or psychological support, you first need to show it works. That proof needs to come from scientific research and for that you need a sufficient number of patients. If a particular disease is being treated in one hospital, the radiologist, physiotherapist, the lab researcher of psychologist in that hospital will build up more experience with that disease. We must put aside mutual competition to put our patients' interests first.”
100 networks of expertise
By analogy with the situation in, for instance France, the UK, the Netherlands, Sweden and Spain, Belgian experts want some hundred centres and networks of expertise that can group a total of 7,000 rare diseases. But in order to assign these centres of expertise, we first need a national umbrella organisation that can assess the self-evaluation, documentation and audits of the university hospitals based on European guidelines.
Prof. dr. Marion Delcroix: “Our debate on Thursday needs to clarify how urgent the situation is and how long patients have been left out in the cold. We are 20 years behind, and we are not proud of that. As long as the government can't tell us say how the rare diseases plan will be realised and how the centres of expertise will be appointed, the quality of care for rare diseases in Belgium cannot be guaranteed. The ship needs a captain, or you can't set sail.”
Middle: Marion Delcroix, chairman of the Council for rare diseases at UZ Leuven, with some members of the Bureau of the Council for rare diseases
About the debate on 7 November
Doctors and hospitals from CHU de Liège, CU Saint-Luc, Grand Hôpital de Charleroi - IPG, H.U.B, UZA, UZ Brussel, UZ Gent and UZ Leuven join forces for a debate in the federal parliament, together with the organisations for rare diseases RaDiOrg and RADDIAL. Politicians from nearly all parties will participate in a conversation with both patients and experts. The moderator will be Christophe Deborsu.
About rare diseases
A rare disease is a disorder that affect no more than 1 in 2,000 people in the European Union. There are still large differences in this: 4% of rare diseases occur in 1 to 5 in 10,000 people, while 84% of diseases affect less than 1 in 1,000,000 patients. In Belgium expertise in rare diseases is not clearly defined, making it difficult for patients to find an expert. Because of this, people with a rare disease lose a lot of time before they find a suitable expert. The long turnaround time creates significant medical consequences, acute stress and uncertainty for patients and those around them.