Medical Journey
Symptoms and treatments
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:
Heart problems: This can be quite common though is not always present. It can also switch from one type to another. To learn more about the types of heart issues, symptoms and treatments please follow this link.
Muscle weakness: Children with heart problems can get tired more easily when feeding but a Barth baby may also have muscle weakness meaning that they can be floppy and more generally tired. To learn more about this symptom and treatments please click on the link.
Muscle weakness and tiredness (floppy baby) and exercise intolerance.
Feeding problems: Barth babies may not grow as quickly as other babies so they can be small for their age. To learn more about these symptoms and treatments please click the link below.
Feeding problems and failure to grow and put on weight.
Neutropenia
White blood cells are the part of the blood that protects us from bacterial and fungal infections. Barth babies can have a low count of these protective cells to learn more about the impact and treatment of this symptom please click the link below.
Neutropenia (low white blood cell count) and repeated bacterial and/or fungal infections.
Other Symptoms
Barth babies may be more at risk of low blood sugar, acidic blood and have some similarities in facial features. To learn more about these please click the link below.
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. They may have severe heart failure as a baby – a term that is guaranteed to scare any parent but which simply means that their heart is not pumping blood around their body as well as it should; however, heart function may improve after a while.
Hypoglycaemia or low blood sugar, lactic acidosis, organic aciduria, facial appearance
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 who will be happy to chat to you about your concerns and will tell you if 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.
Diagnosing Barth syndrome
Do you think your child might have Barth syndrome and need some help getting tested? Please contact us and we can help you through each step of the process.
Waiting to hear whether your child has this condition is often a really worrying time. You can’t really do anything until you know what you’re dealing with. However, this can be a good time to familiarise yourself with some of the basic information about the condition and how it is diagnosed here in the UK.
Biochemical and Genetic Testing
There are two main ways of testing to see if someone has Barth syndrome. Your child can have a genetic test from a blood sample (which can take some time) or, thanks to the latest research, they can have a new biochemical "cardiolipin test" which can be performed very reliably on as little as 3ml of blood. This newer cardiolipin test result usually takes only a few weeks.
If the cardiolipin test is positive for Barth syndrome, then traditional genetic testing will be done afterwards, just to be doubly sure. However, once you get back a definitive cardiolipin test, you can usually go ahead and assume that your child does have Barth syndrome.
There is no charge for this testing for UK patients as it is funded by NHS Specialised Services. Please note that there is also no longer a need for an invasive muscle biopsy to diagnose the condition.
How rare is Barth syndrome?
Latest figures suggest that the incidence rate is approximately 1:1 000 000. It affects people from all ethnic groups.
How do you get Barth Syndrome? (Inheritance)
This condition is named after Dr Peter Barth who first described it in 1983. He described a disease (X-linked genetic condition) which was inherited through the female line and could therefore affect children in different generations of a family.
The “Barth” gene (tafazzin gene) lies on structures called chromosomes. Women have two X chromosomes (XX), generally they have a back-up copy and should anything go wrong on the Barth gene on one X chromosome, they can simply use their other, healthy copy of the gene from their second X chromosome.
Men have one X chromosome and one Y chromosome (XY) so they do not have a back-up copy if anything goes wrong on their X chromosome. Men who have an altered gene on their X chromosome thus become affected.
Having children
- If a woman carrier has a boy, there is a 50% (1 in 2) risk that the boy will be affected.
- If a woman carrier has a girl, there is a 50% (1 in 2) risk that the girl will be a healthy carrier, like her mother.
- For men with Barth syndrome who have children, all of their daughters will be carriers.
- Men do not pass on their X chromosomes to their sons. Therefore, all the sons of men with Barth syndrome are completely healthy.
- Sometimes children are born with X-linked conditions even though their mothers are not carriers (spontaneous mutation). When this happens, it is particularly important to get specialist advice about future pregnancies Barth syndrome
Carrier Testing and Genetic Counselling
If you (or someone in your family like your mother, grandmother, sister, aunt etc) have a history of multiple male miscarriages or stillbirths, you should be tested to see if you’re a carrier of Barth syndrome. If you have a child who has been diagnosed with Barth syndrome, you will also be offered testing. Your blood can be analysed to see if you have the same genetic mutation as your child has – if you do, then this means you are a carrier.
You can also discuss options regarding having your other sons and daughters tested if necessary.
Fertility
As Barth Syndrome is a mainly genetic condition there are a number of fertility issues to develop an understanding of. Please click here to learn more.
Clinical trials
Our mission is to save lives through education, advances in treatments, and finding a cure for Barth syndrome. We know that we need new, safe, and effective treatments to help people with Barth syndrome live better lives at the same time as we invest in research towards one day finding a cure for Barth syndrome.
A vital step towards achieving this goal is providing our community opportunities to take part in new clinical studies and trials. And although we encourage participation in research, we stress that it is always the individual's choice to engage and participate in research.
BSF, along with its affiliates, is actively supporting research into exciting new prospects like:
- Gene therapy
- Elamipretide/TazPower clinical trial
- Enzyme replacement Therapy
The UK was where the first ever clinical trial for a repurposed drug for Barth syndrome was done. This drug is called bezafibrate and the trial was called the CARDIOMAN clinical trial. While the end results of the actual drug were not what we hoped, we learned much from this trial, including how committed our community is to taking part in clinical trials and what we know works (and doesn’t work) going forward. And who knew taking part in a clinical trial could also be so much fun?! Watch our CARDIOMAN video created by the talented Oliver Baxter-Smith
Details of new, international clinical trials are regularly posted on the BSF site here: Clinical Trials : Clinical Trials : Research : Barth Syndrome Foundation