#What Do I Know About Rare Disease ?
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What are the challenges to improve the lives of rare disease patients?
- Getting out of isolation. This feeling is expressed by one in two patients.
- Strengthen psychological follow-up. One in three patients feel that they have to hide [@Question]their illness.
- Recognise and value the role of carers in the management of the disease. 70% express that the management of the disease does not leave them any free time.
To find more about the challenge of rare disease patients, take a look at Maladies Rares Info Services
#What Do I Know About Rare Disease ?
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What daily needs do rare disease patients express?
- 52% of sick people express a need for financial aid
- 44% need technical aids (wheelchair, canes, bath seat...)
- 39% express the need for home help (household, toilet...)
- Home layout and ergonomic equipment are also a need for 25% and 22% of people respectively.
71% of the respondents underline the difficulty of obtaining financial and technical assistance at home through "heavy" and "frequent" procedures.
Find more information on Maladies Rares Info Service
#What Do I Know About Rare Disease ?
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Do medical and paramedical professionals consider themselves sufficiently trained to deal with rare diseases?
According to a survey by the Rare Disease Observatory dating from 2015, 90% of respondents felt that healthcare professionals outside the hospital had insufficient knowledge of rare diseases. This can be explained by the rarity of the diseases represented. This can be a source of rupture in the health and life course of sick people and their relatives.
More information on Maladies Info Service
G&CTI - Gene & Cell Therapy Institute, the first independent think tank on gene and cell therapies!
We are pleased to announce our membership as a supporting member of G&CTi - Gene & Cell Therapy Institute, the first independent think tank on gene and cell therapies.
We are joining the "Healthcare companies" college and we join the supporting members of G&CTi : Biodimed; Bluebird bio; LHF Espoir; Pfizer; PTC Therapeutics; SFTCG
Gene and cell therapies are promising for rare and severe diseases and will lead to a structural change in our healthcare system. We are convinced that a collective approach with concrete proposals will allow these new therapeutic solutions to emerge.
About G&CTi:
Gene & Cell Therapy Institute (G&CTi) is a free, independent, not-for-profit think tank serving the public interest. Its objective is to bring together all the actors in the French Healthcare sector to become a major player in the democratic debate and to promote the emergence of a long-term vision on advanced therapies.
A balanced, neutral, pluralist, and efficient structure, this think tank is structured around 5 colleges representing all the players in the health sector.
To find out more and join G&CTi, go to www.gcti.fr or send us an email at contact@gcti.fr
#What Do I Know About Rare Disease ?
Test your knowledge with BlueDil !
What is the average time it takes to diagnose a rare disease?
4 years is the average length of diagnostic wandering for a person with a rare disease Diagnostic wandering is responsible for a possible worsening of the patients' condition, a delay in the possibilities of genetic counselling and a waste of medical resources (multiplicity of diagnostic consultations). One of the issues at stake in diagnostic wandering is the delay in implementing specific treatment - when it exists.
More informations on Plan national des maladie rare 3
[1 month, 1 rare disease, 1 organization] Idiopathic Pulmonary Fibrosis
Every month, BlueDil focus on a different rare and severe disease.
Rare disease of this month: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis (IPF) is a rare chronic, idiopathic lung disease characterized by progressive irreversible changes in the structure of the lungs. The proliferation of fibrosis-producing cells (consisting mainly of collagen) prevents the lung from functioning properly and the alveoli become rigid and retract.
The alveoli, those small pockets at the end of the bronchi where gas exchanges take place (absorption of oxygen and release of carbon dioxide).
The passage of oxygen and the release of carbon dioxide is no longer assured.
The term "idiopathic" means that the cause of this disease is unknown.
How is the disease manifested?
The initial symptoms of IPF are shortness of breath and often a chronic dry cough. It can also be signalled by recurrent infections, loss of appetite, unexplained weight loss, a feeling of fatigue and/or malaise, more rarely muscle and joint pain, and short, rapid breathing.
Digital hippocratism (enlargement and bulging of the last phalanges of the fingers or toes) is present in half of the cases. Early inspiratory crackles (crackling rales) are heard on auscultation.
Is there a cure?
There is no drug treatment that can cure IPF. The only thing that can be done is to slow its aggravation and the concomitant respiratory failure. Two anti-fibrotic drugs are currently available to slow down the progression of IVF and give a better quality of life to the patients concerned.
Another treatment - non-drug based - is recommended by pulmonary physicians: respiratory rehabilitation, which is provided in specialized hospital centers. It is useful to keep up appropriate physical activity, even if it is low.
Clinical trials are underway to test new molecules. In France, the coordination of care is ensured by the Reference Centre and the Competence Centres for Rare Lung Diseases (www.maladies-pulmonaires-rares.fr) with which lung specialists work.
For more information, visit APEFPI's website
#What Do I Know About Rare Disease ?
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What is the percentage of rare diseases of genetic origin?
About 80% of rare diseases have a genetic origin. Most often, they are severe, chronic, progressive and have a significant impact on the quality of life of the sick person. They cause motor, sensory or intellectual deficits in 50% of cases and a total loss of autonomy in 9% of cases.
More informations on Plan National Maladies Rares 3
#What Do I Know About Rare Disease ?
Test your knowledge with BlueDil !
What is the difference between rare diseases and orphan diseases?
Answer: An orphan disease is a disease for which no effective treatment is available.
It is a rare disease when it affects one person in 2,000.
Many rare diseases are also orphan diseases due to a lack of appropriate treatments.
Source: Ministry of Solidarity and Health
10 winners of the 2020 call for projects
The Fondation des Entreprises du Médicament rewards the winners of its call for projects, launched in January 2020, on the theme of "the emergence of innovative solutions in healthcare pathways and their appropriation by beneficiaries".
Endowed with €250,000 for this call for projects, the Leem Foundation's objective was to reward programmes relating to :
- Taking into account health behaviours and determinants of health
- Identification and detection of weak signals and risk situations
- Actions to strengthen education and therapeutic adherence.
The Leem Foundation received 67 files from non-profit organisations of general interest, 10 files were selected by the Executive Committee of the Foundation.
The Fondation des Entreprises du Médicament rewards the winners of its call for projects, launched in January 2020, on the theme of "the emergence of innovative solutions in healthcare pathways and their appropriation by beneficiaries".
Endowed with €250,000 for this call for projects, the Leem Foundation's objective was to reward programmes relating to :
- Taking into account health behaviours and determinants of health
- Identification and detection of weak signals and risk situations
- Actions to strengthen education and therapeutic adherence.
The Leem Foundation received 67 files from non-profit organisations of general interest, 10 files were selected by the Executive Committee of the Foundation.
Discover the 10 winning projects :
- C3SI - Confédération régionale des centres de santé des Pays de la Loire (Pays de la Loire Regional Confederation of Health Centres): Regional polypathology therapeutic education project "Moi et la maladie" (Me and the disease)
- Osmose health network (Paris Ile-de-France): Access to healthcare for people in vulnerable situations in the south 92
- Association Proses (Paris Ile-de-France): Promoting access to care for users of psychoactive products in the general practitioner's office
- Groupe Hospitalier Universitaire Paris - Psychiatrie & Neuroscience (GHU Paris) (Pa-ris Ile-de-France) : Psychosocial support for people in exile in France (APEX) - Pilot study for an intervention research
- Association Ithaque (Haut-Rhin): Accommodation device backed by a low-risk drinking room
- RELAIS VIH (Aveyron): Mediation in social health and support for people living with HIV
- Robert-Debré University Hospital (Paris Ile-de-France): Implementation and evaluation of the "AD'venir" Days
- Alliance Malades Rares : Experimental Project Companions Rare Diseases
- Prepsy: Reinforcement of therapeutic adherence through case management, digital mental health and the increase of capacities in ordinary environments.
- ADSF - Agir pour la santé des femmes : Reinforcing therapeutic adherence through case management, digital mental health and capacity building in the ordinary environment.
Always attentive to the management of rare diseases, BlueDil draws your attention to the winning project carried by the Alliance Maladie Rare: Compagnons Maladies Rares, a support to health autonomy in rare diseases. Patients or caregivers concerned by a rare disease have been recruited and trained in support. They are in charge of offering local support with the aim of mobilising their capacity to act to become actors in their life course and to acquire better decision-making autonomy.
To know more : https://www.leem.org/presse/innover-dans-le-parcours-de-sante-des-patients-la-fondation-des-entreprises-du-medicament