Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Symptoms of Barth syndrome
You’re going to quickly become an expert in this condition. Here are the basics.
Children with Barth syndrome may have some or all of the following main symptoms:
Muscle weakness - Muscle weakness and tiredness (floppy baby) and exercise intolerance
Feeding problems - Feeding problems and failure to grow and put on weight. Often diagnosed with reflux. Small for age.
Neutropenia - Neutropenia (low white blood cell count) and repeated bacterial and/or fungal infections. Risk of sepsis.
The symptoms can vary quite a bit between children and even the same child may sometimes wax and wane with regard to any single symptom. He may have severe heart failure as a baby – a term that is guaranteed to scare any parent but which simply means that his heart is not pumping blood around his body as well as it should; however, his heart function may improve after a while.
When should you be concerned about your baby’s health and what should you do?
Trust your Instincts
At first it can be really hard to trust your instincts. If you are a first-time parent and you don’t have other healthy children against which you can compare your child who has Barth syndrome, it can be difficult to distinguish between what it a real cause of concern and what is normal.
Be cautious and know your baselines
It is prudent to be cautious, especially in the beginning. Try to get a feel for what is “normal” with your child. When they're well, what is their breathing rate per minute? Do you know what their pulse is normally? What is their normal routine?
If you see a sudden change in your child’s habits, for example if they are not feeding as well as they used to, urinating less, running a fever, more lethargic than normal, breathing faster etc, please contact Barth Syndrome UK to discuss. Another excellent resource is the specialist Barth Syndrome Nurse, Hayley Smith who will be happy to chat to you about your concerns and will tell you if she feels you should take it further.
Open Access to Hospital
Many parents have “Open Access” to their local hospital where they can take their child if unwell – this bypasses the need for long waits in the A&E Department and also prevents unnecessary exposure to other illnesses.
Do you have a question about any of these symptoms?
Or maybe just need a friendly person to talk to?
"At the beginning, everything was so difficult to understand – so much new medical jargon! Taking it one step at a time was the only way I could deal with it all. I learned the basics and then learned what to look out for to keep Jamie safe."