Activities in Rare Heart Diseases Project

1. Activities in Rare Heart Diseases Project Sami Kaivos Cardiovascular nurse

2. What is a rare disease? • Disease is considered rare when it affects: • 1:10.000 • 2:10.000 • 5:10.000 • 6000-7000 rare diseases world wide • and new diseases are described weekly in the medical literature • Estimated 29 milj. people across all 27 EU countries • Status of rare disease may vary with time and between different continents

3. Typical characteristics • Rare diseases are often: • chronic, progressive, degenerative, life-threatening and disabling diseases • Lack of sufficient scientific and medical knowledge →delay of diagnosis • No treatment at all or treatment is not available • Rehabilitation and peer support are unavailable • Lack of relevant patient information • Danger of social and economical exclusion

4. Action in Europe • www.orpha.net • The portal for rare diseases and orphan drugs (coordinated in France) • www.rarelink.org • A Nordic link collection and contact arrangement for rare diseases • Eurordis (www.eurordis.org) • European Organisation for Rare Diseases • a patient-driven alliance of patient organisations and individuals active in the field of rare diseases

5. Rare diseases in Finnish Heart Association (FHA) • Requirement of services for smaller patient groups than coronary patients acknowledged for years • all our ”rare” diseases don´t meet criteria of the rareness • including patient groups who have no information, peer groups, rehabilitation etc. • The project financed by Finnish Slot Machine Association 2009 –2011 and after that will be part of normal activities of FHA • A nurse and a part time doctor (0,6 %) employed

6. Small patient groups • Hereditary cardiac arrythmias • Cardiac sarcoidosis • Pulmonaryhypertension • Familial hypercholesterolaemia • Diseases of aorta • Cardiovascular manifestations linked with rheumatic diseases and metabolic diseases • hemochoromatosis, amyloidosis

7. Action plan/strategy • Patient information • webpages • Information booklets and leaflets • Organising meetings for patients • Rehabilitation and family courses • Peer support • Training health care professionals • Information and public consciousness of rare heart diseases • Advocating of patients

8. What have we done so far? • Collaboration with other patient organisations who deal with rare diseases • member of Harvinaiset-network (www.harvinaiset.fi) • ”Register” for patient with cardiac sarcoidosis • 9/2009 cardiac sarcoidosis meeting • Onset patient network • Updating our webpages (cardiac sarcoidosis and pulmonary hypertension) • Lectures • Articles to be published • Information booklets • Long QT-syndrome • Diseases of aorta • Education for health care professionals • Advocating • social security and health care • reimbursement for expences of medicines etc.

9. Plans for the year 2010 • LQTS information leaflet • Information bookletfor FH patients • Rehabilitation • For families with hereditary arrythmia patient • For patients with aortic disease • For patients with pulmonary hypertension • Seminar of rare heart diseases for professionals • Second meeting for cardiac sarcoidosis patients • Lecturing, writing articles etc.