The Barth Syndrome Service at Bristol Royal Hospital for Children is a multidisciplinary service for the management of this complex multisystem disease and the first of its type in the World. 

 A clinic for males affected by Barth Syndrome had been run informally in Bristol since 2004 in conjunction with the Barth Syndrome Trust. Since April 2010 NHS Specialised Services have provided funding  for a full multidisciplinary service  for patients from throughout the UK. This involves input from Consultants in all of the relevant areas of paediatrics - genetics, cardiology, haematology, metabolic medicine, neurology, gastroenterology and endocrinology - together with Clinical Nurse Specialist (CNS), dietetic, psychology, physiotherapy and occupational therapy care. 

Central to the service is the opportunity to attend a multidisciplinary clinic at a frequency determined by clinical needs. The aim of the service is to minimise the number of hospital visits which boys require as well as providing expert care for a disease with many unique features. Clinics are run on a six monthly basis with patients seen at other times where necessary.

Diagnostic biochemical and genetic testing for the disease is provided free of charge to referring UK doctors.

CONSULTANTS:

Dr Colin Steward
T: 0117 342 8044

For urgent advice out of hours, Dr Steward can be contacted though Switchboard at Bristol Royal Infirmary on 0117 923 0000.

Dr Bev Tsai-Goodman
T: 0117 342 8855

Dr Ruth Newbury-Ecob
T: 0117 342 5107

MULTIDISCIPLINARY TEAM

Barth Syndrome Clinical Nurse Specialist
T: 0117 342 8088
E-mail: Debbie.Riddiford@uhbristol.nhs.uk

Ann Bowron - Principal Clinical Biochemist
T: 0117 342  2590
E-mail: Ann.Bowron@uhbristol.nhs.uk

Sue Western - Administrator
T: 0117 342 8044
E-mail: Susan.Western@uhbristol.nhs.uk

Dr Vanessa Garratt - Prinicipal Clinical Psychologist
T: 0117 342 8163
E-mail: Vanessa.Garratt@uhbristol.nhs.uk

Mrs Nicol Clayton - Specialist Dietitian
T: 0117 342 8802
E-mail: n.clayton@nhs.net

USEFUL LINKS:

BARTH SYNDROME TRUST (UK)

http://www.barthsyndrome.org.uk/

The Barth Syndrome Trust offers support to patients and their families, access to latest information from around the world, a regular newsletter and invitation to the international conference held every two years in the USA and organised by the Barth Syndrome Foundation (USA).

BARTH SYNDROME FOUNDATION (USA)

http://www.barthsyndrome.org/

The Barth Syndrome Foundation (BSF) was the first charity established to help patients and families across the World affected by Barth Syndrome. Based in the USA, BSF organises an international conference, which acts as the major focal point for families. BSF and BST fund many research projects looking into the scientific basis and new treatments for the disease. Dr Steward is a member of the Scientific & Medical Advisory Board of BSF.

CARDIOMYOPATHY ASSOCIATION

http://www.cardiomyopathy.org/

The Cardiomyopathy Association helps sufferers, their families, and their medical advisors to best manage the impact of cardiomyopathy.

CHILDREN'S HEART FEDERATION

http://www.childrens-heart-fed.org.uk/

CHF is a federation of support groups in the UK and Ireland for families with (or expecting) a child with a heart condition.

GUCH

http://www.guch.org.uk/

Grown Up Congenital Heart patients Association (GUCH) provide support for families and patients suffering from cardiomyopathy.

THE MISCARRIAGE ASSOCIATION

http://www.miscarriageassociation.org.uk/

The Miscarriage Association acknowledges the distress associated with pregnancy loss and strives to make a positive difference to those whom it affects.

SANDS

http://www.uk-sands.org/

SANDS is an organisation which can offer support to parents whose baby has died during pregnancy or after birth. Many of the staff of SANDS have been through this experience themselves, and are able to offer support and information.