#What Do I Know About Rare Diseases ?
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What are the 11 strategic axes of the National Plan for Rare Diseases 3 (2018-2022)?
Axis 1 - Reduce wandering and diagnostic deadlock
Axis 2 - Advance neonatal screening and prenatal and pre-implantation diagnostics to allow earlier diagnosis
Axis 3 - Sharing data to promote diagnosis and the development of new treatments
Axis 4 - Promote access to treatments for rare diseases
Axis 5 - Giving new impetus to research on rare diseases
Axis 6 - Fostering the emergence of and access to innovation
Axis 7 - Improving the care pathway
Axis 8 - Facilitating the inclusion of people with rare diseases and their caregivers
Axis 9 - Training health and social professionals to better identify and manage rare diseases
Axis 10 - Strengthen the role of the rare disease healthcare systems in healthcare and research issues.
Axis 11 - Clarify the positioning and missions of other national rare disease stakeholders.
For more information go to https://solidarites-sante.gouv.fr/IMG/pdf/plan_national_maladies_rares_2018-2022.pdf
[1 month, 1 rare disease, 1 organization] Familial Hemophagocytic Lymphohistiocytosis
Every month, BlueDil focus on a different rare and severe disease.
What is the FHL?
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare genetic disease that affects the immune system and the digestive system in some cases. This disease can be caused by 4 different genetic mutations.
How is this disease characterized?
White blood cells are no longer able to defend themselves against the attack of a virus or bacteria. They activate themselves with the objective of destroying the cells infected by the virus but they do not reach their target, they get excited and attack the healthy cells of our organs (liver, brain, lungs...). This uncontrolled response can cause serious consequences, including death.
Who is affected by FHL?
This rare disease usually occurs during the first year of life and mostly affects babies. There are 300 patients in France and about 1000 patients in Europe affected by FHL.
Is there a cure for FHL?
Today the only existing treatments are immunotherapy and bone marrow transplantation. Children who are affected in the intestine, suffer from digestive malabsorption and have to depend on parenteral nutrition all their lives.
What is the role of associations in rare diseases such as FHL?
Patient associations such as FHL Espoir play a major role in supporting research and carrying out solidarity and support actions in favor of patients.
In the case of FHL, research is underway to find alternative treatments for immune and digestive disorders. In 2020, LHF Espoir, a french association, raised €10,000 for FHL research. It hopes to raise up to €30,000 per year in the following years!
Find all the details on this rare disease on the LHF Espoir website (www.lhfespoir.org) and the interview of a research director (from the Imagine Institute) on the research work of the LHF (https://lhfespoir.org/recherche).
#What Do I Know About Rare Diseases ?
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What are the 5 missions of the National Reference Centers for Rare Diseases?
Answer :
- Coordination and animation of the care network
- Multidisciplinary and multi-professional diagnostic, therapeutic and follow-up care
- Expertise
- Search
- Education and training
To know more, take a look at Solidarité Santé
#What Do I Know About Rare Diseases ?
Test your knowledge with BlueDil !
What are the 3 main missions of rare disease network in France ?
Answer : The 23 rare disease networks have as their missions :
- Improvement of health care, medico-social and social care
- Research: Fostering the continuum between basic and clinical research
- Education, training and information
To know more, take a look at Solidarité Santé
#What Do I Know About Rare Diseases ?
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How many centers of reference for the care of rare diseases (CRMR) have been labeled in 2017 in France for the next 5 years?
Answer : there was 109 reference centers for rare diseases labeled in 2017.
To know more, take a look at Solidarité Santé
#What Do I Know About Rare Diseases ?
Test your knowledge with BlueDil !
How many national rare disease networks exist in France?
The organisation of care is structured into 23 rare disease health systems (FSMR).
Plus d'informations sur Solidarités Santé
#What Do I Know About Rare Diseases ?
Test your knowledge with BlueDil !
What is the impact of rare diseases on couples?
Couple's difficulties are frequent among sick people and parents of sick children. 72% of the people concerned express couple's difficulties, including 37% of high tensions, separations or divorces.
To find more, go on Maladies Rares Info Service.
#What Do I Know About Rare Diseases ?
Test your knowledge with BlueDil !
What social risk is most frequently observed on rare disease patients?
Isolation.
According to the Rare Disease Observatory's 2015 survey, half of the people surveyed indicate that the sick person feels isolated from friends and close relatives because of their illness.
#What Do I Know About Rare Diseases ?
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What are the consequences of rare diseases on patients' mental health?
According to the Rare Disease Observatory's 2015 survey, 62% of people suffering from rare diseases suffer from depressive episodes, seizures or behavioural disorders. According to the same survey, 1 out of 3 sick people are offered psychological care.
To know more on this subject, check Maladies Rares Info Service.
#What Do I Know About Rare Diseases ?
Test your knowledge with BlueDil !
What is the impact of a rare disease on work?
According to the survey of the Rare Disease Observatory dating from 2015, the pathology leads 50% of sick people and parents of minor children to not or no longer work and 25% to temporarily interrupt their professional activity.
Fond more on Maladies Rares Info Service