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 booklet for 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.