Skip to content
left end
left end
right end
Transition was good. Everyone was friendly, helpful and caring

TRANSITION

Barth Syndrome

Barth Syndrome is a rare genetic condition that usually only affects males. You will have been born with it and might have learnt about it or how it affects you as you have grown up. You can find more info on this page along with signposting to other sources of information and support.

You can read about the main symptoms of Barth Syndrome below, if you have any questions or are concerned about anything then do contact your team for support.

Heart muscle weakness (cardiomyopathy)

The term cardiomyopathy means that the heart does not work as well as it should, this can be due to many reasons but usually is because the heart becomes too big or the muscle is too thick. This can mean that the heart finds it harder to pump blood around the body.

In many cases we can help your heart pump better by giving you medications but sometimes this doesn't work well and we will then talk to you about other treatments.

Neutropenia

The body produces neutrophils; these are a type of white blood cell that are important in fighting bacteria. Most people have lots of these (more than 1,500,000,000 in every litre of blood!), which the doctors write as 1.5. If you have less than 1.5 neutrophils this is called being neutropenic. Having less than 0.5 neutrophils is called "severe neutropenia". This means that it is more difficult for your body to fight bacteria properly so you might need to go to hospital for a blood test and get given antibiotics.

Neutropenia can also make you feel tired, brushing your teeth might hurt and you might get frequent or very painful mouth ulcers. Nine out of every ten males with Barth Syndrome get neutropenia at some time. Some young people are neutropenic some of all of the time and others only get this occasionally. You can read about G-CSF, which is a medication that helps your body produce neutrophils on the medication page here.

Growth issues

Barth Syndrome means that you grow more slowly than most other people and you also go into puberty later. You may do most of your growing after you have left school.

Doctors can sometimes look at your growth by looking at how many little bones have formed in your wrist by taking an X-ray. They call this a "bone age" test. It is one way of knowing how many extra years of growth you have. For instance, if you have an X-ray at 15 years but your X-ray looks like the wrist of someone of 12 years of age, then the doctors know that you should have three years of extra growth compared to other young people. If you and your doctors become worried about your growth they may do a growth hormone test to see whether your growth could be speeded up by giving growth hormone injections (but this doesn't happen very often).

Fatigue

You might find your muscles aren't as strong as many other people your age, particularly the muscles at the tops of your legs. This can make it more difficult to run or to kick a football hard and you might get tired much more easily, making it difficult to keep up with others. Barth Syndrome makes it harder for your muscle cells to make energy, especially in large muscles like those at the tops of your legs and in your heart. It's important to tell those around you about your condition so that they understand if you have to take things at your own pace.