DIANE & ROBIN RUST CONGRESS CENTRE LONDON THE PATIENT PERSPECTIVE 22ND NOVEMBER 2012 REGISTERED CHARITY No

WHAT IS MARFAN SYNDROME? Variable Disorder of Connective tissue Picture Left : 9 year old boy undiagnosed until 15 years Incidence of Marfan syndrome in the UK is 1 in 3,300 Orphanet: Marfan Syndrome Indication: Criteria for disease: Marfan Syndrome (FBN1) Consultant document, results published by European Marfan Centres in Incidence 1 in 3,300 to 1 in 5,000 Page 2 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

INVESTIGATING A POSSIBLE DIAGNOSIS Eyes – Dislocation, Detached Retina Heart – Aortic Dissection Lungs – Pneumothorax Extended Extremities and other skeletal deformities Hereditary disorder Page 3 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

TOGETHER WE CAN Patient & Care Team Cardiac Surgeon Ophthalmologist Cardiac Nurse Specialist General Practitioner Orthopaedic Surgeon Page 4 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

CHALLENGES OF “SYNDROMES” Less chance of missing a “vital piece of the jigsaw” that helps diagnosis More people that are screened in the family of any age Page 5 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

CONTINUITY OF CARE Delays hold back the healing process Who’s Driving? Not the patient! Page 6 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

ONE STOP SHOP One Stop Shop All specialists in the same place at the same time This facilitates early diagnosis saves time in instigating treatment Which saves lives And money And saves patient stress Travelling time and fatigue Page 7 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

REMAINING CHALLENGE A Very Classic Marfan Case Involving At Least Two Generations Page 8 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

DIAGNOSTIC CRITERIA CONCERNS As the Criteria become more specific it raises doubts concerning diagnosis amongst GPs and Lay People BERLIN GHENT 1 GHENT 2 Page 9 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No

OUR MOTIVATION IS “Support for Today with Tomorrow in Mind” You have brought us hope for the future “Together We Can!” Diane and Robin Rust Marfan Association UK, Fleet, Hampshire Page 10 04/04/2015 ‘Working with Marfan Syndrome and Overlapping Disorders’ REGISTERED CHARITY No