Saving lives through education, advances in treatments and finding a cure for Barth syndrome
Barth Syndrome NHS Specialised Service
We recognised that children and adults with Barth syndrome needed one centre of expertise that could care for multiple needs, run by a team of doctors who understood about all aspects of the disease. In 2004 we partnered with doctors at the Bristol Royal Hospital for Children to start seeing some of the children 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 was approved and set up in April 2010. This clinic was the first of its type in the world.
The National NHS Barth Syndrome Service provides the following to UK patients:
- Diagnostic biochemical and genetic testing (free of charge to referring UK doctors)
- Individual appointments with specialist team soon after diagnosis
- Invitation to an annual multi-disciplinary clinic
- On-going support and advice across all aspects of the condition
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
There are also separate Adult clinics for affected individuals, also offered by the Barth Syndrome Service.
Assistance with travel costs and accommodation
Families come from all over the UK to attend these clinics and we realise it can place financial strain on families. For this reason, we have a travel policy whereby affected families can claim back a portion of their travel expenses. They can also claim back one night's accommodation from the clinic. 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
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 (CNS) – 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 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.
How can I get a referral?
Please contact your GP and ask for a referral from them to the Service. The letter needs to have the following info included please:
Your full name, date of birth, home address, a contact phone number, NHS number, next of kin details, and your GP details (i.e. name, surgery address and contact number). Then you can be added onto their hospital system.
It needs to be addressed to:
Barth Syndrome NHS Specialised Service
Bristol Royal Hospital for Children
Level 6
Education Centre
Upper Maudlin Street
Bristol
BS2 8AE
However, in order to speed things up, you can also request that your GP emails this letter to the service on BarthSyndromeService@uhbw.nhs.uk
Next clinic date
Please keep an eye on the What's New section of
the Home Page
Free test to diagnose Barth syndrome, please visit the Barth Syndrome NHS site.
“ 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!”
