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Saving lives through education, advances in treatment and finding a cure for Barth syndrome

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Barth Syndrome NHS Specialised Service

BST recognised that boys and men with Barth syndrome needed one clinic that could care for multiple needs, run by a team of doctors who understood about all aspects of the disease. In 2004 we persuaded doctors at the Bristol Royal Hospital for Children to start seeing some of the boys all together in one clinic. This eventually led to discussions with NHS Specialised Services and then to an application to set up a specialised multidisciplinary clinic, which started in April 2010. This clinic was the first of its type in the world.

 

The National NHS Barth Syndrome Service provides the following:

  • Diagnostic biochemical and genetic testing (free of charge to referring UK doctors)
  • Individual appointments with specialist team within 2 weeks of diagnosis
  • Invitation to an annual multi-disciplinary clinic
  • On-going support and advice across all aspects of the condition

Please note that European patients outside the UK need to be in possession of a valid S2 form (formerly E112) to access this service.

 

See the NHS website for additional information.

 

What makes our service so unique?

We are very proud of our Barth Syndrome Clinic at the Bristol Royal Hospital for Children. Our children are not just “heart kids” or “neutropenia kids”; instead they struggle with a variety of symptoms and successful management means that a flexible and multi-disciplinary approach is needed.

 

The clinics are friendly and informal with a lot of opportunity for questions and discussion about such diverse topics as:

  • Managing health, psychological, financial and day-to-day issues
  • Physiotherapy and occupational therapy, nutrition, general questions, education

A chance to meet other families

After each clinic, we organise and fund a Family Gathering Day outside of the hospital environment where children and young people can spend time together having fun and where parents can meet each other. These Fun Days are extremely popular! Activities might include a day out and a BBQ at an Outdoor Centre, bowling and pizza parties, a day out at a local attraction etc. This is your chance to relax and unwind and ask all the questions you never got round to asking in the hospital. Siblings are affected by Barth syndrome too and we encourage you to bring them along to take part in the fun.

 

Assistance with travel costs and accommodation

Families come from all over the UK and Europe to attend these clinics and we realise it can place financial strain on families. For this reason, BST has a travel policy whereby affected families can claim back a portion of their travel and accommodation expenses. The policy has specific requirements so please contact us prior to attending the clinic and we’ll be happy to send you all the information you need to plan your visit. Please note that we reserve the right to amend or withdraw this arrangement for future clinics.

      

More details about the clinic

Cardiology – detailed assessment of cardiac function including echocardiography, 12 lead ECG and 24-hour ECG, exercise testing etc

 

Haematology – assessment of possible neutropenia, antibiotic prophylaxis, prescription of Granulocyte-Colony Stimulating Factor (G-CSF), organisation of parental training on injection technique and home supply of the drug

 

Genetics – initial genetic counselling, antenatal testing (peripheral blood sample testing to determine sex of foetus, CVS, amniocentesis etc)

 

Dietetics and metabolic issues – analysis of food diaries, advice regarding feeding problems, appropriate diets, anticipated growth rates, nasogastric and gastrostomy care, dietary adjustments to potentially alleviate symptoms

 

Gastroenterology – management of diarrhoea

 

Endocrinology – investigation into and management of delayed growth in childhood and accelerated growth after puberty

 

Physiotherapy and occupational therapy – assessment of muscle strength, exercise regimes to improve core stability and strength, orthotics

 

Psychology and Social Worker – to provide assessment and assistance in all related areas

 

Dentist – consultation if there are overcrowding issues

 

Clinical Nurse Specialist – to ensure effective communication between all parties involved and to provide holistic and patient centred care of the highest standard. The CNS will visit affected families at home and school and will provide information and training in all matters pertaining to the proper management of Barth syndrome

 

Who should be referred for testing?

Any male infant, child or adult presenting with one or more of the following:

  • Cardiac abnormality (dilated cardiomyopathy, left ventricular non-compaction cardiomyopathy) Unexplained intermittent, persistent or cyclical neutropenia 
  • Unexplained hypoglycaemia and/or lactic acidosis
  • Proximal myopathy
  • Feeding difficulties and Failure to Thrive
  • Any female adult with a history of multiple still-births, foetal hydrops or foetal cardiomyopathy.

 

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Free test to diagnose Barth syndrome, please visit the Barth Syndrome NHS site.

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“ It totally exceeded all my expectations. This is the first time we've been able to talk to experts in the condition who are so knowledgeable but who are also so friendly and approachable and willing to listen to and work with us.”

 

“This is the first time we've ever been able to speak to a psychologist and I'm so grateful for this opportunity.”

 

“Being able to share experiences with other families is incredible - we want more!”

 
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