#What Do I Know About Rare Diseases ?

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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.

 

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#What Do I Know About Rare Disease ?

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School and rare disease: how many sick people attending school have benefited from specific support or school facilities?

According to the Rare Disease Observatory's survey of 2015, 42% of people with rare diseases attending school benefits from specific accompaniment or educational arrangements.
60% of people confronted with the educational body (patients or parents of patients) feel that they have been well, or even very well, welcomed and listened to by the educational teams.

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#What Do I Know About Rare Diseases ?

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School and rare disease: Which law rules the conditions of reception of sick people attending school?

The Disability Act of 11 February 2005 on "Equal rights and opportunities, participation and citizenship of persons with disabilities" stipulates that every person with a disability has the right of help from the entire national community, which, by virtue of this obligation, guarantees him or her access to the recognized fundamental rights of all citizens, including the right to education.

More informations on Maladies Rares Info Service.

To know more about the Disability Act of 11 February 2005


#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.

 

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#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.

 

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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 ?

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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