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» Expert Histio Net » For Patients » FAQ » Living with a rare disease  · 

Frequently asked questions about rare diseases in general

Author(s): E. Schaefer, G. Janka, Created: 2011/06/08, Reviewed by: J. Donadieu, R. Haupt, M. Minkov, last update: 2011/10/03

Click on one of the frequently asked questions, if you want to see the answer.

How to use this FAQ list

1 - Can I display all answers of the FAQs at once?
No, it is not possible to display all answers at once. Every answer is closed when you click on another question to expand the answer. Please contact us to ask for a pdf file.
Links:
[1] Contact
2 - Can I print the whole list of FAQs?
No, it is not possible to print all answers, but you can contact us and ask for a pdf file.
Links:
[1] Contact
3 - How can I close the last answer?
It will close automatically once you leave this webpage.

Living with a rare disease

1 - What is a "rare" disease?
A disease is qualified "rare", when it has got a low frequency or appears rarely in a population. In Europe a rare disease is defined to occur in less than 1 per 2.000 individuals (EC Regulation).
2 - How many rare diseases are there?
It is estimated that there are between 5.000 and 8.000 known rare diseases in the world.
3 - How many people are suffering from a rare disease?
Rare diseases are an important public health problem, because they concern millions of people in Europe. It can be assumed that nearly 5% of the European population are suffering from a rare disease.
4 - Where can I find help, if I am suffering from a rare disease?
There are many national and international initiatives for helping patients and families who are concerned by a rare disease.
Links:
[1] Rare Diseases
[2] Rare Diseases Newsletters
5 - Why does the diagostic procedure take so long?
It is common for all rare diseases that there is little knowledge about the disease among physicians which often causes a delay in diagnosis with unnecessary diagnostic procedures.
6 - Why is it difficult to find the correct treatment?
There is a lack of experienced doctors and non-medical therapists which increases the danger of late, wrong or no treatment with the risk of disease progression. In addition, there is a lack of standardised treatments with limited therapeutic options, a lack of research, and a permanent fight for understanding.
7 - Why is it difficult to live with a rare disease?
There is often a lack of possibility to exchange experience with other persons. This can lead to isolation and loneliness for patients and families. It is therefore important to look for a patient group and to provide written information to the persons of your daily life.

The role and potential of patient associations in networks for rare diseases

1 - How do patient associations help patients?
Patient associations inform patients and provide material about the diseases. They arrange contacts with experts and provide access to expert advice and treatment. They organise meetings for the exchange of information and personal experience among patients with the same or similar diseases.
2 - How do they support professionals like physicians and researchers?
They promote scientific investigations and enhance knowledge about the diseases. They network with physicians specialised in treatment in order to spread knowledge of therapeutic possibilities and inform treating physicians.
3 - What public tasks do they fulfil?
They inform the public and raise the awareness for rare diseases as medical problems. They represent patient interests in local and national political committees and engage in networks with other countries.
4 - How do they support research and scientific work?
Last but not least they raise funds for scientific projects which is very important in view of the lack of interest of industrial companies in rare diseases.

The role and potential of doctors in networks for rare diseases

1 - How can doctors support the work of patient associations?
Doctors should be available by e-mail or phone and share information with patients and/or patient associations. They can help with scientific contents, educate other physicians, participate as experts, and conduct research in rare diseases.
2 - How do doctors benefit on the collaboration with patient associations?
In exchanging with patients and/or patient associations, doctors will gain a better understanding of their special needs and problems.

What I as a concerned patient or family member can do

1 - Why should patients suffering from a rare disease join a patient association?
Participating in a meeting of a patient associations means to meet people who know exactly the problems you have to face in daily live. It also means to support the work of professionals doing research in rare diseases. And it means to help raising funds which are needed for research and scientific projects as well as for example to maintain information sources like this webportal. It would not exist without the support of several patient associations from many different countries.
2 - How can I find a patient association?
We have compiled lists of associations aiming at supporting rare diseases patients and lists of patient associations for histiocytic disorders.
Links:
[1] Links/News/Events
3 - Why should every patient concerned by a rare disease compile own patient records?
In several cases, patients have to wait many weeks, months or even years until diagnosis and have to consult several medical specialists. Often, even when the diagnosis is confirmed an exchange between attending doctor and (other) specialists is needed. The heterogeneity of many diseases necessitates the specialisation of the specialists, whereas time and financial restrictions lead to difficulties in exchanging newly acquired knowledge. Medical advice is never possible without detailed medical information about the special case. An own well-assorted patient record eases considerably the exchange with the attending doctors and enables every consulted specialist to quickly get an overview of the case.
4 - What if I don’t receive copies of the documents and images?
You as the person in question have an explicit right to receive a copy of all documents and images. (You might have to confirm the reception of images or to pay for duplicates.) A good doctor will never refuse this to a patient suffering from a rare disease.

If you have any further questions please do not hesitate to contact the Histio Net team.

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