Saving lives through education, advances in treatment and finding a cure for Barth syndrome
As long as your child is being regularly monitored (see NHS Service) and they are stable and on the right medications if needed, there are good prospects for living life normally, with a few tweaks as detailed below. Children with Barth syndrome tend to go through periods of well-being and can often be well for a number of years. For reasons which we don’t yet understand, they sometimes struggle during infancy but are often well throughout childhood, often hitting a period of fatigue at around the age of 10-11yrs onwards. However, it’s important to understand that each child is different and even two children in the same family, who have the same mutation, can be affected differently.
Based on our experience, it is possible for you to take advantage of periods of well-being and use these times to go on holiday or do all the things that make your family happy. Enjoy the good times but remain vigilant as it is easy to not notice when your child might be heading for a period of ill health. Look out for subtle clues like small changes in appetite, mood, sleeping or activity levels. Are they more tired than usual? Paler than usual? Do they get a certain look around their eyes when feeling unwell? Mouth ulcers or persistent nappy rash? A series of virus-type illnesses? All these can be important clues that mean that you should contact our specialist nurse or your healthcare professional to discuss. Trust your instincts.
Contact us for information about travel insurance that will not exclude Barth syndrome. Take extra medication and a prescription with you in your hand luggage and research your holiday venue before you go – what will the weather be like? Is the food safe? Where is the nearest hospital? Do you have our basic Barth syndrome information sheets which have been translated into various different languages so you can make your child's needs understood?
Do you have basic medical information for the individual with Barth syndrome? Having reference points for their 'normals' or baselines for some tests like full blood count and cardiac function information can be very helpful when seeing new doctors who might not know your child nor have much experience of treating Barth syndrome.
Having this information before you depart means you can relax and enjoy yourselves.
At the airport: If you’re taking injections on holiday, take a hospital letter from your childs consultant to prove it’s a prescribed medication so that you can carry the injections in your hand luggage. If you are travelling with nutritional formula, a similar letter may be necessary to carry volumes of liquid in your hand luggage. The above also applies if you're travelling with an External Defibrillator.
Tell the airline well beforehand if your child is using a wheelchair so that you can take it right up to the gate and have it at hand as soon as you land.
Schedule in some rest time
Fatigue can be a major symptom at different ages with many younger children alternating between periods of high energy until suddenly “hitting the wall” and needing a significant amount of time to rest and recuperate. It can take longer to recover from a busy day or periods of physical activity, so consider scheduling in rest times.
Meeting other people with Barth syndrome
Having a rare condition can be isolating and meeting other affected families can be very helpful. Please come along to our Family Days which are after the NHS Clinic Days to meet others who understand some of the things you’re going through.
Advance Care Plan
Contact the Barth Specialist Nurse if you would like your child to have an Advanced Care Plan. This is a document which sets out his needs and/or wishes in case of emergency. It is then distributed to your local Ambulance Service, Out of Hours GP Service and local A&E so that any 999 call will mean that his details can be called up immediately.
Emergency Medical Folder
Please contact us for a copy of our Emergency Folder. This is a clear plastic folder which has all the necessary information for Barth syndrome patients in case of emergency. It also includes a template for an Individual Care Plan which you can create for your child. This individual Care Plan will have details relating to your child – their medications and dosages, allergies, contact details etc – information that can be hard to remember in an emergency.
Your child will see many different medical professionals and it is useful to keep a file with copies of each clinic visit and include as much information as possible so that you have an accurate picture of your child’s health. This is especially useful when seeing a new doctor or if you are going away on holiday.
Resuscitation Course (CPR)
Consider doing a resuscitation course (CPR) in case of any cardiac arrest or emergency. Consider getting an external Defibrillator and also ensuring that there is one at school.
Keep a diary of symptoms
This may be useful when you notice periods where your child may be slightly off-colour, irritable or unwell.
Let the NHS Barth Syndrome Nurse know
When you have any special appointments or procedures booked or if you are worried about your child, please contact our specialist nurse at the Bristol Hospital for Children. She may be able to offer advice or assistance.
T: 0117 342 8102
Arrange for Open Access to your local hospital so that you can bypass the busy A&E Department and avoid unnecessary delays and exposure to infection.
Take care in GP waiting rooms or around obviously infectious people, use an anti-bacterial hand sanitiser when needed, avoid sharing drinks and food with others. Also pay attention to oral hygiene and tooth brushing. Clean and disinfect cuts and scrapes quickly.
As your child gets older, think about a bracelet etc to identify that they have a heart condition, with the necessary details in case of emergency.
You may be entitled to claim Disability Living Allowance or the new Personal Independence Payment, Carer’s Allowance and other benefits which can help tremendously. Please see the Benefits section on our Resources for families page for more information.
On this page you'll find a wealth of information designed to make your everyday life as easy as possible.
Please browse through various topics such as holidays, snacks, resting, Care Plans, Open Access for when your child is unwell, school and information about claiming benefits...
"Barth Syndrome UK worked with us to create a brilliant Emergency Care Pack which I can just grab in an emergency and has all the information I need."