How can we fight the "large file syndrome"?

Clarifying symptoms and a diagnosis for rare diseases takes a lot of time. This is often not rewarded in our economic thinking about medicine. Dr. Dorit Fabricius explains if it is time for new paradigms on the issue.

Interview with PD Dr. Dorit Fabricius on "Rare Disease Day”

PD Dr. Dorit Fabricius works as a senior physician at the Centre for Rare Diseases at the University Hospital Ulm, Germany in the Department of Paediatrics and Adolescent Medicine. On the occasion of Rare Disease Day, she talks to esanum about the problems of diagnosis and therapy of rare diseases.

esanum: Dear PD Dr. Fabricius, patients with rare diseases are still often diagnosed late. How can we improve this situation in the future?

Fabricius: Of course, we have taken the action plan of the National Action Alliance for People with Rare Diseases to heart in order to help those affected get a diagnosis more quickly. On this basis, a lot has been done here in Ulm. In concrete terms, 9 specialist centres (B-centres) for certain rare diseases have been established at the ZSE (Zentrum für Seltene Erkrankungen - Centre for Rare Diseases) of Ulm University Hospital. But we also have a so-called A-centre, which functions as a contact point for those patients who have not yet received a diagnosis. Furthermore, it is very important that we have established structures to be able to process patient enquiries and cases more quickly. Until now, it often took several months to receive a response to enquiries.

The A- and also the B-centres serve internally to network the individual disciplines and are also in contact with other centres for rare diseases in Germany, which gives us the opportunity to work on patient cases in an interdisciplinary way. However, we can only offer personal consultation hours in exceptional cases. For the A-centre we have not yet established any consultation hours at all. In the B-centres we offer consultation hours for the rare diseases treated there in each case.

Many patients have already gone through a veritable odyssey of physician's visits before they come to us. The patient file is correspondingly extensive and confusing. Therefore, it must be said quite clearly that this naturally complicates any further medical assessment. However, we have prepared forms on our homepage which ask for and record the information relevant to us and which are ideally filled out together with the GP or a trusted physician. After receiving the patient data, we create a clear electronic patient file so that each colleague does not have to work through the pile of findings, imaging and treatment reports again and again. On this basis, we are able to make a symptom-oriented assignment to one of the specialised B-centres and, if necessary, to other disciplines outside the B-centres for further diagnostic clarification.

In the centres or specialty departments, the patient material is finally assessed and an evaluation is made of the extent to which, based on the reports and findings, a suspicion of which type of rare disease can be assumed. On the basis of this assessment, advice is then given as to whether the patient should present at the centre and what further diagnostic steps should be taken.

Due to the previous history of many patients and the high level of suffering, we at the University Hospital Ulm always include psychosomatics in the considerations - right from the start. We try to look at our patients holistically right from the first contact.

esanum: The Covid-19 pandemic also set back many medical initiatives in this country. What impact did the pandemic have on the diagnosis of certain rare diseases?

Fabricius: Of course, we are also experiencing staff shortages and sick leave, which affected emergency medicine in particular. That is true, and as a result there have also been shifts in the provision of care for rare diseases. Nevertheless, we make every effort to ensure the interdisciplinary review of patient cases even in times of a pandemic. Overall, medical care would of course be much better if we were not so tightly scheduled in our work and if we had a little more buffer instead of only having to work profit-oriented. But here, too, I hope that the awareness will slowly mature that basic medical care - much like the fire brigade and the police - is simply part of our society.

esanum: What can patients with rare diseases do themselves to get a diagnosis more quickly? And to what extent do we also need to raise awareness among general practitioners?

Fabricius: I think it is particularly important that patients find a physician they trust and discuss with them whether and where a presentation to a ZSE makes sense. For patients, unclear diagnoses in particular are very difficult to assess. Here, the support of colleagues in private practice is needed to assess the situation correctly and to assign patients in a targeted manner.

Likewise, physicians in private practice can support patients in streamlining and preparing their medical records accordingly. It is important, for example, that only current findings are kept in the folder, which are usually not older than 2 years. One-time findings, such as genetic examinations, should always be included so that the colleagues can assess the relevance and possible further examinations. The motivation for the patient when creating the file should always be: The simpler and clearer the file is, the faster the ZSE can assess the case and react to it.

It is also very important for patients that before anything is examined, they should always make sure that the findings are also discussed with them. We experience time and again that patients make enquiries to us, e.g. with imaging and genetic findings, where the significance or relevance of these findings has never been discussed. Hence the call to colleagues in the branch: If you carry out expensive examinations, then of course you also have to know how to interpret the findings and what consequences they have.

And finally, in order to improve care in the long term, patients with rare diseases should organise themselves in self-help groups in order to be able to influence politics and, for example, to obtain funding for more staff in the centres.