Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Families - New to Barth syndrome?
We understand how overwhelming it can be when you first suspect that you or your child may have Barth syndrome; so many unanswered questions, much to learn about symptoms, treatments and just what happens next. All our family support team members have undergone similar experiences and can help you.
In this section of our website you’ll find the basic information you need:
- Why joining Barth Syndrome UK is important for your family
- How to diagnose Barth syndrome, incidence rates and how it is passed on
Getting a diagnosis – good thing or bad thing?
Getting a diagnosis of Barth syndrome can be both a good and bad thing. No-one would ever choose to have to cope with such a rare and serious condition. However, you now know what you’re fighting and this is the first step in getting as many tools as you need to win that fight. Also, you’re no longer alone. You have a whole group of positive, expert and friendly families and medical professionals who really understand what you’re dealing with and who are here to help you.
During the initial shock of diagnosis, many parents feel like there is one huge, unspoken and terrifying question: What kind of future, if any, can I expect for my child? Will my child survive?
Within our group, we know of men in their late fifties with Barth syndrome and many of our adults have gone on to have children of their own. A French study of 22 patients in 2013 found that the survival rate for patients born after 2000 was 70%, whereas it was only 20% for those born before 2000.
So is there hope after diagnosis?
The answer is YES! It’s true that Barth syndrome is a serious condition and it can sometimes be life-threatening or life-limiting. However, recent medical advances and earlier diagnosis have made a positive impact and can lead to a full and happy life. Nearly all children here in the United Kingdom go to mainstream schools and enjoy normal activities. There are periods when they might not be well and sometimes their heart function might prevent them from doing everything. However, being born with the condition, they often quickly get used to their routine and can be quite accepting of their condition. They have to make allowances for their fatigue and muscle weakness and allow for more periods of rest but these can be ideal times to sit quietly and bond with peers or staff over a story or a quiet activity.
Some of our young people with Barth syndrome in the UK are successfully studying at university or working and we know of adults who are married and have children of their own. Please take a look at some of our family stories.
There is no cure as yet but we’re working hard to raise funds and support scientific research to better understand the complex nature of the condition and to find a treatment and one day, a cure for Barth syndrome.
Do you need information or just need to talk?
"I had an instant feeling of support when I called Barth Syndrome UK."