New to Barth syndrome?

Barth syndrome is a rare, often life-threatening genetic disorder that affects children, young people and adults. Look at our logo and you’ll see a heart at its centre: this is because most of our children have heart failure and a risk of sudden cardiac arrest. However, the heart at the centre is also a powerful symbol of who we are as an organisation: we are a strong, caring and positive force.

Family looking out to sea at the beach

Overview

We understand how overwhelming it can be when you first suspect that you or your child may have Barth syndrome; so many unanswered questions, much to learn about symptoms, treatments and just what happens next. All our family support team members have undergone similar experiences and can help you.

In this section of our website, you’ll find the basic information you need about:

  • Why joining Barth Syndrome UK is important and how to access the charity
  • Is there hope after diagnosis? What kind of future can I expect?
  • Joining forces for a brighter future
  • How to explain Barth syndrome to children and teens

How to access the charity

When you’re ready, please contact us either by phone or by email as there is a wealth of information that is available to members only (membership is free) and that are not on any website. Examples include:

  • Private WhatsApp group for UK families as well as international app for all families where families can share experience and support
  • News blasts
  • Access to Specialised Clinics and Family Days
  • The opportunity to add your experiences to our global registry so that we can better study this rare condition to help us find treatments and a cure
  • A friendly voice at the end of the phone to talk things over
  • Referral to a private private coach and cognitive hypnotherapist for a course of sessions

Please contact us for further information. Membership is free and you are welcome at any time to choose the level of information and support you need without any pressure.

So is there hope after diagnosis?

Children playing with letter blocks

The answer is YES! It’s true that Barth syndrome is a serious condition and it can sometimes be life-threatening or life-limiting. However, recent medical advances and earlier diagnosis have made a positive impact and can lead to a full and happy life. Nearly all children here in the United Kingdom go to mainstream schools and enjoy normal activities. There are periods when they might not be well and sometimes their heart function might prevent them from doing everything. However, being born with the condition, they often quickly get used to their routine and can be quite accepting of their condition. They have to make allowances for their fatigue and muscle weakness and allow for more periods of rest but these can be ideal times to sit quietly and bond with peers or staff over a story or a quiet activity.

Some of our young people with Barth syndrome in the UK are successfully studying at university or working and we know of adults who are married and have children of their own. Please take a look at some of our family stories.

There is no cure as yet but we’re working hard to raise funds and support scientific research to better understand the complex nature of the condition and to find a treatment and one day, a cure for Barth syndrome.

During the initial shock of diagnosis, many parents feel like there is one huge, unspoken and terrifying question: What kind of future can I expect for my child? Will my child survive?

Within our group, we know of men in their fifties and sixties with Barth syndrome and many of our adults have gone on to have children of their own.  A French study of 22 patients in 2013 found that the survival rate for patients born after 2000 was 70%, whereas it was only 20% for those born before 2000.

Barth Syndrome children in a hospital
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Joining Forces for a Brighter Future

We believe in working together with like-minded people. Pooling resources, getting people talking to each other and learning from each other helps us move forward faster. We actively support the NHS Specialist Service for Barth Syndrome in Bristol and we also work closely with the Barth Syndrome Foundation in the USA and other Barth syndrome patient groups in Canada and Europe. We share resources where practical so that every donation of time or money can be used to its full potential.

Information for children

For younger children

Our wonderful "A little book for children" is written and illustrated for primary children.

For Older Children

Check out our  Teenage booklet written by the Bristol Barth Team with contributions from Barth Syndrome UK and the affected children and their siblings themselves.

This is written for young people but is also an easy way to get all the major information you need in an easy to read format.