Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Founder and Chair, Michaela Damin tells her story
Our precious son, Nicholas, was nearly 3 years old when he was diagnosed with Barth syndrome. After three long years my husband Marco and I were relieved to know what was wrong with him but also frustrated by how little anyone knew about Barth syndrome. We needed information and support. We needed to know what to do to keep our son alive.
On the Internet I found hope through the first members of the newly formed Barth Syndrome Foundation in the USA. They were a source of information for which I was starving; they became my cyber friends and they introduced me to other affected families. When we finally met in person at the 2002 conference in the USA, I knew that they had become real friends.
As time passed, I felt I had to do something more here at home. By that time I had met a few other affected families in the UK and Europe and we realised that we were often dealing with problems which were country-specific. We wanted to help other families as we ourselves had been helped. We also aimed to raise awareness in our countries so that boys would be diagnosed earlier. The Barth Syndrome Trust (UK and Europe) was born.
Many years later, our son is now an adult. He has certainly had a few ups and downs along the way and he struggles with the extreme and unpredictable tiredness that often accompanies this syndrome. However, he is smart and fun and full of life and we are blessed to have him in our lives. He, along with all the other affected children and men in our group, are our driving force and our strength. They rely on us to find a treatment and a cure for them and, with your help, we know we will succeed.
Helen Coleman, Secretary
Our son Will was born in 1989, and was a very floppy and sick child who failed to grow as well as other babies we knew. It took us five years to get a diagnosis of Barth Syndrome but we knew of no other families with the same condition. By this time, he’d had a heart transplant and although he was doing well, he was prone to illnesses on a regular basis.
The only information we could find was limited and scary, telling us that our son would not live much past 5 years old – he was on borrowed time!
Luckily, we met Michaela and subsequently other affected families and became part of a much bigger picture. The support we have had has helped us all through some really tough times, and we now help with raising awareness in our community and supporting newly affected families.
Will is now an adult, works 4 days a week and drives his own car. Every day he surprises us with what he can achieve and within the constraints of his health, lives as normal a life as possible.
Sonja Schlapak, Trustee
Our son, who is in primary school, was diagnosed when he was very young. Fortunately our physicians already knew about the rare disorder Barth syndrome. This is unusual because in Germany (where we live) there are only about twenty diagnosed cases and few doctors have ever seen a Barth boy or man.
At the beginning we were not sure if our sweet little son would survive. But step by step he started improving and being a member of the Barth Syndrome Trust often helped us find the right medical care for him.
I so appreciated what the Barth syndrome community did for us which is why I decided to serve as a Trustee for the Barth Syndrome Trust.
I live in Germany and I am the contact person for Germany, Austria and Switzerland.
Suzy Green, Trustee
I am mum to Mitchell who has Barth syndrome. Mitchell although small at birth - 4lb 7oz and full term - appeared to be a healthy baby. He ate well and did well until he was two years 6 months, although he was late to crawl and walk. Then without warning Mitchell got a virus causing him to go into heart failure. This was the first time we heard the words "Barth syndrome". We had no idea at that time how these two words would change our lives forever.
Today Mitchell attends a mainstream secondary school with support and is a popular member of our local community. He enjoys swimming, cycling and being a typical boy.
Getting the diagnosis has changed our lives. At times it's hard watching Mitchell's peers playing football and winning at Sports Day knowing Mitchell struggles to keep up. But then we look at what he has achieved and is coping with as he crosses the finish line (last again this Sports Day) but he finished and we realise he is so brave and we are so proud of him. He NEVER gives up.
My personal goal is to raise awareness by fundraising so that one day we will find a cure.
Nigel Moore, Trustee
I have been involved with BST for a number of years, as a volunteer and later as a Trustee. My special interest is on the Publication Team working on our publications for BST and also publications for the Barth Syndrome Foundation as part of an international team. At the end of February 2018, I will be resigning from the Board when my term expires.
The Barth syndrome community is small, but it is a real community of families, clinicians, researchers, donors and volunteers. What makes it very special is that so much of a difference is being made by so few people who needed to help each other because Barth syndrome is a rare medical disorder.
We rely on volunteers to accomplish our ambitious goals and would welcome your help. Please visit our Volunteer page for more information.