Board, Committees & Staff

Our beautiful boy was nearly three years old when he was diagnosed with Barth syndrome. He had gone into cardiogenic shock at three months old and had more hospitalisations that we could count. He had even been put on the heart transplant list when he was just over a year old but landed up suddenly being taken off it one day nine months later, when his cardiac function mysteriously improved. After three long years my husband and I were relieved to finally get an answer as to 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 child 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 lifeline and they introduced me to other affected families.

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 children 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 his 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 adults 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.

I am Mum to 3 boys. Unaffected twin boys born six weeks premature and affected boy born at 40 weeks, diagnosed at 6 months of age. After having healthy twin boys, albeit born 6 weeks premature, you can imagine my surprise when my third beautiful baby boy was diagnosed with such a rare condition that predominantly only affects boys.

Mackenzie was born a seemingly healthy baby with no known issues at birth but before long, he began to slowly stop drinking milk until he was barely having one bottle a day. This caused Mackenzie to stop gaining weight and he was referred to a dietician. During a heatwave we called 111 due to worrying he would become dehydrated and whilst waiting for a call back we noticed his feet and ankles had become swollen. We called back to provide an update and we were seen by an out of hours doctor in less than an hour.

The doctor did some checks and referred us to A&E with a letter and advised me on what tests we should be having upon our arrival. The doctors did an ECG which came back normal and I had to push doctors for an echo, which they eventually did. To their surprise, Mackenzie's heart function was so poor that they immediately rushed us in an ambulance to the Royal Brompton hospital. Mackenzie was placed in paediatric intensive care and we were advised to prepare for the worst. After genetic testing and very luckily, a fast result, we received the diagnosis and were put into contact with BSUK and they have been incredible at supporting our family navigate the most difficult thing we have ever been faced with.

Like most people I had never heard of Barth syndrome and was completely unaware of how damaging it is to both the affected individuals and the people around them.

Mackenzie was so strong and managed to beat the worst of it within only a two week period and sent home with a feeding tube and a whole cabinet full of medications to try and manage the condition as well as possible. We were referred to Bristol Royal Hospital For Children to see the Specialist Barth Syndrome Service and have been under their care since. Thankfully Mackenzie is now doing really well, but every day is still a struggle as we continue to adapt to his constantly changing care needs.

Once I realised how little information there was on the condition and how much the families need the support of Barth Syndrome UK, I was eager to get on the charity board and work with the other incredible board members and families within our community.

I am committed to bringing the community together and helping to fundraise in the hopes of providing support to all affected by Barth syndrome, as well as continuing to work towards our goal of finding effective treatments and one day a cure for this life limiting condition.

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.

From Joanna: I used to work for many years in the education sector and to teach groups of all ages from early school to young adults. Even though I requalified as a lawyer, I keep supporting children and young people whenever and in whichever manner I can, mainly engaging in various charitable initiatives. Their matters remain close to my heart.

I was introduced to Barth Syndrome UK by a former colleague and friend and enthusiastically undertook the role as a trustee. I am excited and feel privileged to put my current professional experience and knowledge as well as my skills and the best of my abilities gained through the years spent educating, at the services of the charity and those under its care.

On personal level, it links me back with the profession I cherish and which runs in my blood (80% of the family members happened to work in teaching…). On human level, I have been so fortunate in my life that I really feel under the moral duty to give back and create a good fortune to those who may have not had that much of luck. And finally, I am a strong believer that in each and every exchange with others, including as between a member of a charity and a beneficiary, we always learn from the other person and come out enriched. I look forward to that. Barth Syndrome affected individuals may have been less generously treated by the destiny but yes they have so much to share, teach us and bring into our lives.

“We make a living by what we get, but we make a life by what we give.” (W.Churchill)