DIANE & ROBIN RUSTCONGRESS CENTRE LONDON

THE PATIENT PERSPECTIVE22ND NOVEMBER 2012

REGISTERED CHARITY No. 802727

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 SyndromeIndication: Criteria for disease: Marfan Syndrome (FBN1)http://www.orpha.netConsultant document, results published by European Marfan Centres

in 2007. Incidence 1 in 3,300 to 1 in 5,000

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INVESTIGATING A POSSIBLE DIAGNOSIS

• Eyes – Dislocation, Detached Retina

• Heart – Aortic Dissection

• Lungs – Pneumothorax

• Extended Extremities and other skeletal deformities

• Hereditary disorder

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TOGETHER WE CAN

Patient & Care Team

Cardiac Surgeon

Ophthalmologist

Cardiac Nurse Specialist

General Practitioner

Orthopaedic Surgeon

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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

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CONTINUITY OF CARE

• Delays hold back the healing process

• Who’s Driving?• Not the patient!

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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

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REMAINING CHALLENGE

A Very Classic Marfan Case Involving At Least Two Generations

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DIAGNOSTIC CRITERIA CONCERNS

• As the Criteria become more specific it raises doubts concerning diagnosis amongst GPs and Lay People

BERLINGHENT 1GHENT 2

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OUR MOTIVATION IS

“Support for Today with Tomorrow in Mind”

You have brought us hope for the future

“Together We Can!”

Diane and Robin RustMarfan Association UK, Fleet, Hampshire

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