Healthcare Public policy Cross-sector

Rare diseases : 3 tools to improve their knowledge and monitoring

Published on 25 May 2020 Read 25 min

Improving knowledge and monitoring of rare diseases is a major public health issue. As an illustration, there are currently about 7,000 rare diseases known worldwide, and new ones are discovered regularly. These diseases are often chronic, serious and affect all medical specialties. Knowledge of rare diseases is therefore difficult for healthcare professionals to acquire. Facing the transformation of the doctor-patient relationship and the patients’ willingness to express themselves and share “their” experience and “their” knowledge about their disease, new horizons are possible for training and knowledge dissemination. Alcimed highlights 3 tools to develop knowledge and better care for patients affected by rare diseases.

Transferring experiential knowledge from families and caregivers to improve knowledge of rare diseases

In medico-social institutions, healthcare professionals face a very wide variety of situations and illnesses, about which they are not always able to develop expertise. Conversely, the caregivers and the patients’ families have often acquired knowledge and expertise specific to each illness, thanks to their own experience. In the case of rare diseases, this so-called experiential knowledge is even more important as healthcare professions may know little about the diseases, and information on the particularities of care and monitoring is incomplete. In order to increase the receptivity of healthcare professionals to the experiential knowledge of families and caregivers, the AFSA (French Association of Angelman Syndrome), supported by Alcimed, is developing training for healthcare professionals working in medico-social institutions. The main objectives are to remove preconceived notions about Angelman syndrome, to question current care practices and monitoring, and to deploy a specific support system for healthcare professionals, caregivers, and patients.

Broadly training healthcare professionals through e-learning

A majority of healthcare professionals, especially in primary care medicine, are not aware or are poorly informed about rare diseases due to their multiplicity. Indeed, as an example, there are more than 200 neuro-muscular diseases! This lack of knowledge sometimes leads to worse outcomes for patients, due to late diagnosis. It is therefore essential to make healthcare professionals aware of the specificities of rare diseases. The Rare Diseases Health Branch FILNEMUS (focused on diseases of the muscle, neuromuscular junction, peripheral nerve and infantile spinal muscular atrophies) has taken up the subject by developing, with Alcimed, e-learning modules dedicated to general practitioners and other healthcare professionals, to improve early diagnosis and patient orientation.

The care of people with a rare disease can also be a source of concern for health professionals. This is why the Rare Diseases Health Branch Brain Team (rare diseases of the central nervous system showing symptoms of motor or cognitive expression and that can be familial or sporadic) is working with Alcimed, on the production of tutorial videos for physiotherapists to carry out various manipulations related to the rare diseases targeted by Brain Team. Other tutorials on pain management will also be developed.

Informing patients and streamlining the care pathways

For rare diseases, the patient pathway is often referred to as a true ‘obstacle course’. Indeed, it is often complex, and involving several specialties and areas of expertise; the follow-up can be poorly carried out, not very legible, not very consistent, or very repetitive. Considering these issues, the French Association for Bourneville Tuberous Sclerosis (ASTB), the rare disease branch DéfiScience, and the Reference Center for Rare Epilepsies (CRéER) have joined forces to create a digital application, with Alcimed. Targeting patients, caregivers and healthcare professionals, the application aims to improve the monitoring and management of the disease, to provide fun and educational information, and to strengthen the link between patients, caregivers and healthcare professionals.

The transfer of experiential knowledge from patients and caregivers, e-learning courses, digital applications … are a bunch of major issues and challenges patient organizations and rare disease networks are taking up and they no longer hesitate to push for the creation of new tools to improve the knowledge and care of rare disease patients. In this context, Alcimed is keen to support them in their efforts to bring about this change!

About the authors

Lola, Consultant in Alcimed’s Public Health Policies and Innovation in France
Mélina, Consultant in Alcimed’s Public Health Policies and Innovation in France
Cassandre, Consultant in Alcimed’s Public Health Policies and Innovation in France
Agnès, Project Manager in Alcimed’s Public Health Policies and Innovation in France

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