La gemma rara - What is it?
La gemma rara is a voluntary association which primarily aims to help people affected by rare genetic diseases.
Its
activity is focused on promoting, within public health care facilities
in Varese, the study and research for diagnosis and prevention of rare
genetic diseases whilst mitigate health and social problems that affect
patients and their families.
What are rare genetic diseases
•
Rare genetic diseases are more than 7000, they
affect 3% of births and in Italy they affect 1.5 million people.
Many of these diseases are particularly rare, nevertheless , for
each of them exist thousands of cases. Every year, in the
province of Varese alone, about 200 children are born suffering
from a rare genetic disease.
•
Rare genetic diseases appear, more frequently,
just after birth o during childhood; some of them may become
obvious only in adulthood.
•
Rare genetic diseases are known as “orphan
diseases” because they are not appealing to experimental and
clinical research. These diseases present a challenge at various
levels: diagnosis, care of patients, identification of
appropriate therapeutic solution and research.
•
Rare genetic diseases require a huge diagnostic
effort and continuous specialized assistance. Public health care
can’t be solely responsible for the provision of adequate and
comprehensive interventions.
•
People suffering from a rare disease may,
additionally, suffer even more by not being treated adequately.
•
People suffering from rare genetic diseases
always face a very difficult diagnostic route often
characterized by loneliness and isolation.
|
This is
man's highest end, |
|
|
Sophocles, Oedipus the King |
|
Purposes
La gemma rara’s main goals are:
| • | To give assistance to patients for the diagnostic, therapeutic and rehabilitation processes. |
| • | To contribute whit the training of medical and technical staff devoted to studying and diagnosing genetic diseases. |
| • | To promote, inside health care facilities in Varese, diagnostic and therapeutic research for hereditary diseases. |
| • | To represent a direct channel of communication between families and doctors. |
To achieve our purposes we intend to pursue the:
| • | Development of an information service to direct patients to reference medical centers. |
| • | Diffusion of genetic disease information trough professional courses, conferences, conventions and publications. |
| • | Creation of an interactive computer network for all clinical professional working in the province of Varese, in order to help scientific communication between medical experts and families of patients. |
| • | Development of an La gemma rara’s internet site for promoting and advertising its activities. |
| • | To acquire funds, by means of various promotion and activities, for the purpose of supporting the development of genetic disease diagnosis research in Varese. |
| • | Creation, for medical staff working in public health care facilities in Varese, of scholarships to improve diagnostic research. |
| • | Increase the dedicated consulting clinical structures, already operating in Varese, in order to satisfy patients’ needs and comply with international standards. |
How you can help la gemma rara
Your help will be very important whatever it will be.
You may contact us through this website suggesting your proposals, initiatives, ideas and needs.
A big “welcome” to all the volunteers who want to help us.
You will receive an annual newsletter about our activities, projects and initiatives.
Thank you also for reading this page on behalf of all the patients affected by rare genetic disorders.
Clicking on the "Form" button you may access the form to make your donation or pay your membership fee.