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This page contains summaries of the presentation for the category "Patient driven innovative projects for rare diseasesThis page will be updated soon." as well as links to the documents.

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Anna Allford, Melissa Winter (United-Kingdom)

Family Route Maps - a patient driven project to develop a tool to help access information and services for families with six genetic conditions

Summary: Together with Patient Support Groups and their members representing six rare genetic disorders, the charity Genetic Interest Group explored information and services currently available to families in the UK as the first stage in the development of Family Route Maps designed to signpost information and guide patients, families and carers through the available appropriate healthcare and other services. In addition to providing future practical guidance to people with the six specific disorders, the project will produce a generic Route Map template which can be used for other genetic conditions. Focus Groups and supplemental interviews with patients belonging to Support Groups as well as interviews with health professionals who specialise in these conditions were used to gain their views and experiences. An online patient questionnaire was also available to widen patient participation. Common themes were identified and seven categories emerged: Information; Communication; Education of Healthcare professionals; Diagnosis of rare genetic disorders; Empowering patients and parents/carers; Ethical, Legal and Social issues; and Treatment & Surveillance of patients and families with rare genetic disorders

Ms Dorica Dan (Romania)

Collaborative Experience of the Romanian Prader Willi Association

Keywords: Keyword: Rare Diseases, genetic counseling, NGO collaboration

Summary: Developing awareness about the needs of children with Rare Diseases and engaging public in a shared strategy for the development of genetic services, will ensure a collaborative international approach in sharing of expertise and experience

Jonas Bo Hansen (Denmark)

Living with a Rare Disease: a Study of Living Conditions for Persons with Rare Disorders

Keywords: Living conditions, rare disorders, questionnaires

Summary: Living Conditions for people suffering from rare disorders are far from well described ! In a unique Danish study of families suffering from thirteen different rare diseases individuals and families and their living conditions from birth to adulthood are subject to a thorough investigation. The mappings of living conditions is based on answers from totally 891 questionnaires and number of group interviews. All in all it is possible both to detect the living conditions for the special rare disease in question and for a variety of rare diseases - the differences as well as the similarities.

Dr Martin Johnson (United Kingdom)

A Pilot Project for a European Network for Congenital Limb-reduction Deficiency

Keywords: Congenital Limb-reduction Deficiency Electronic Patient Records
On-line Patient Registry

Summary: This paper describes a pilot project developed by the Thalidomide Trust to create a Health Support Service capable of being expanded to support all CLD patients within the EU

Bianca Pizzera Piantanida (Italy)

Breaking the Silence

Summary: In 2006, IPOPI obtained a European Commission grant to provide a Europe-wide Consensus Conference on the Diagnosis and Management of Primary Immunodeficiencies (PIDs) in the EU. This has provided a model for Europe but also for the rest of the world - and indeed for rare diseases other than PIDs.

Maria Rosaria Vavassori (Italy)

IBEA - The Italian Bank for Alternating Hemiplegia, a tool for the promotion of the research on a rare disease

Keywords: Open Bank, Bio-Bank, Clinical Registry, Patients Rights, research, research projects, patient association

Summary: The Italian Bank for Alternating Hemiplegia IBEA is an open repository containing the clinical data and the blood samples of the Italian patients affected by Alternating Hemiplegia (AHC), a very rare neurological disease.
The Bank is directly managed by A.I.S.EA the Italian Patient Association for AHC and safeguards the patients rights to the privacy and the information about the results of the research projects using the Bank

Teresa Sellan (Italy)

Pollicino (Tom-Thumb) Project: rare disorders patients finding their way

Keywords: information, advocacy, web, patients’ Associations

Summary: Pollicino is a communication project aimed at spreading information on rare disorders at different levels. The created web-site collects information especially on practical aspects of daily-living, care opportunities and benefits provided by the Italian Law, paying particular attention on patient advocacy and empowerment

Sara Gamba, Paola Carrara, Liana Garini (Italy)

Rare disease patients: “How can I know other people with my same health problem?”

Summary: The Clinical Research Centre for Rare Diseases Aldo e Cele Daccò is the Coordinating Centre of the Network for Rare Diseases in Lombardy Region, an area of 9 million inhabitants in Northern Italy. Since the beginning of its activities, the Centre has established close collaboration with more than 290 Italian associations. Unfortunately, not all rare diseases have dedicated associations, and we have reasoned that it could be of help, to these orphan patients (and their families), to promote meeting other people with the same health problem.

 

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