Health. A plan to help 3 million French people with a "rare disease"

The Ministry of Health made official this Tuesday its third plan "rare diseases". With 700 million euros over 5 years (2018-2022), it will give more visibility to the fight against rare diseases in France, while seeking to improve the care and follow-up of those concerned. [19659002ThehealthministerAgnèsBuzynhasmadeofficialTuesdayaplanof700millioneurostobettercareforpeoplewith "rare diseases" . Six questions to understand.

What is a rare disease?

A disease that affects fewer than 2,000 people, or, reduced to the population of our country, a disease that affects less than 30,000 French and French. Nearly 7,000 different diseases fall into this category in France. By nature and with very different consequences, they affect, "all things considered", almost 3 million people.

Why a specific plan?

This is not the first but the third of the kind that has just been formalized today. This new plan includes "5 ambitions and 55 measures, articulated around eleven axes" of action. He wants essentially "to push back the diagnostic wandering and position ourselves at the head of the organization of care and research in Europe", welcomes Agnès Buzyn, the Minister of Health.

« Diagnostic wandering, what is it?

The difficulty of our health system in putting a name on these famous rare diseases. They are so rare that many doctors do not know the symptoms because they have not seen similar cases before. It is estimated that half of the patients concerned by these famous 7 000 diseases are left "without precise diagnosis" – these patients do not know what they are suffering from – and we do not know, today, treat only 5% of these pathologies. In 95% of the cases, therefore, the patients did not "no curative treatment", while they suffer from very real symptoms. A situation all the more difficult to bear that 75% of patients (three out of four patients) are children.

How to improve the situation of patients?

This is the main ambition of this third plan. Failing to be able to treat them, the minister wants the establishment of a "long-term medical and social monitoring" which would lead to a better coordination between the people who accompany the patients, especially by badociating those who intervene in schools, with children. The general idea ? "Making health care more efficient, more legible, placing the patient at the center of the system, moving from diagnosis to individualized medicine, better training, better information", answers Agnès Buzyn.

means will be committed?

Nearly 700 million euros over five years, "to allow France to remain leader" in the fight against rare diseases, says Agnès Buzyn, "With priorities of breaking with diagnostic wandering and consolidating research at an international level" . To achieve this, the Minister wants to rely on "23 rare disease networks, 110 networks formed, nearly 400 centers of reference and nearly 2000 centers of expertise" which constitute "the backbone" of the plan

Will it work?

"We want this plan to be that of treatment", answers the professor Sylvie Odent, head of the department of clinical genetics at the University Hospital of Rennes, who participated in the development of the new plan. "We were afraid that the fight against rare diseases would be drowned in a much broader health plan," the Rennes researcher continues. That a specific plan is dedicated to him, with a lot of things to push innovation around care and life paths, is very good news.

Sylvie Odent also sees it as a way to encourage French research, at the forefront of the field, to stay ahead of the race. "We are very strong on innovation and research, but the transformation of French discoveries into treatments is too often done by other countries, ," she says. We have good brains, but still not strong enough links between our researchers and companies. Crossing national, European and international databases on these diseases will help us move forward. Because the only way to move forward is sharing. "