Medication is one way that Barth Syndrome is managed.  Depending on your needs, there are a number of medications that you may be familiar with or need to take, for example, to support with your cardiac health.

Sometimes, it can be difficult to remember what each medication helps with. If you have any questions about your medications, the Barth team can help with this.   

G-CSF

Your body may struggle to make Granulocyte-Colony Stimulating Factor (G-CSF) due to Barth Syndrome. This can result in low neutrophil counts. To manage this, you may need to take G-CSF as an injection.  

G-CSF is a type of protein that is called a growth factor. It is made in the bone marrow and stimulates the bone marrow to make neutrophils. The bone marrow is the material inside the bones where blood cells are made.

It is given by injection just under the skin. Your parents/carers might help you with this, or this might be something you do yourself. The G-CSF injections will help with things like mouth ulcers, bacterial infections, and will usually make you feel much better. How often these injections are needed can vary depending on what you need.  

To check you have the right dose of G-CSF, you need to have your blood checked regularly through a finger prick test. We will usually ask you to check your blood count either just before you have a dose of G-CSF (we call this a trough count) or on the day after your injection (we call this a peak count). This is to try to make sure that your neutrophil count isn't going either too low or too high. Things like a change in weight can mean the Barth team need to review your G-CSF dose. This is one reason why attending clinic appointments with the Barth team is really important.  

Here are a few top tips for taking finger prick tests:

• Wash your hands in warm water to clean them and warm them up.
• Give your hands a good shake to get the blood to the end of your finger tips.
• Avoid pricking the finger's tip, this part of the finger is very sensitive and it can hurt more. Aim for the side of your finger instead.
• Once you've pricked your finger, rub a tiny amount of Vaseline from a clean cotton bud over the area you pricked. This will help the blood to fall in individual droplets, right into your vial/tube. Wait a couple of seconds before squeezing your finger.
• Hold your hand down below your waist with the tube positioned to catch the drops as they fall. If you need to, you can gently squeeze your finger at the base (near the hand) and move towards the tip.
• Shake the tube gently; there is a chemical on the sides of the sample tube that stops the sample from clotting.  The blood needs to mix with this, otherwise it will clot and the sample will be of no use.
• Try not to use the same place for your injections or blood tests each time. Some individuals choose to give their G-CSF around their tummy button, so that they are using a different place each time.