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The Patient Perspective 22nd November 2012

The Patient Perspective 22nd November 2012. DIANE & ROBIN RUST Congress Centre London. 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

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The Patient Perspective 22nd November 2012

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  1. ThePatientPerspective22nd November2012 DIANE & ROBIN RUST Congress Centre London

  2. What Is marfan syndrome? ‘Working with Marfan Syndrome and Overlapping Disorders’ 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) http://www.orpha.net Consultant document, results published by European Marfan Centres in 2007. Incidence 1 in 3,300 to 1 in 5,000

  3. Investigating a possible diagnosis ‘Working with Marfan Syndrome and Overlapping Disorders’ Eyes – Dislocation, Detached Retina Heart – Aortic Dissection Lungs – Pneumothorax Extended Extremities and other skeletal deformities Hereditary disorder

  4. Together we can Orthopaedic Surgeon General Practitioner Ophthalmologist Cardiac Nurse Specialist Cardiac Surgeon ‘Working with Marfan Syndrome and Overlapping Disorders’ Patient & Care Team

  5. Challenges of “Syndromes” More people that are screened in the family of any age ‘Working with Marfan Syndrome and Overlapping Disorders’ Less chance of missing a “vital piece of the jigsaw” that helps diagnosis

  6. Continuity of care • Who’s Driving? • Not the patient! ‘Working with Marfan Syndrome and Overlapping Disorders’ Delays hold back the healing process

  7. One Stop Shop ‘Working with Marfan Syndrome and Overlapping Disorders’ • 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

  8. Remaining Challenge ‘Working with Marfan Syndrome and Overlapping Disorders’ A Very Classic Marfan Case Involving At Least Two Generations

  9. Diagnostic Criteria concerns BERLIN GHENT 1 GHENT 2 ‘Working with Marfan Syndrome and Overlapping Disorders’ As the Criteria become more specific it raises doubts concerning diagnosis amongst GPs and Lay People

  10. Our motivation is ‘Working with Marfan Syndrome and Overlapping Disorders’ “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

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