Saving lives through education, advances in treatment and finding a cure for Barth syndrome

Board

Founder and CEO, 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 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 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 the 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 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 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.

Cheryl (Chair) and Geoff Parish (Treasurer)

I have worked with young people all of my life, from running a preschool, to teaching primary children, to coaching adolescents and young adults. I am a mother to six children, three of whom have Special Educational needs requiring robust support with both their education and adult life. I have also experienced the sharp end of health issues as our eldest daug

hter spent her short life in a high dependency neonatal unit and the subsequent challenge of bereavement following her death. I am an NLP practitioner and experienced in the practice of mindfulness; I use techniques from these as well as coaching skills to support my clients and their parents.

I believe education and life opportunities should be accessible to all but I know that sometimes the rigidity of the system can make that harder than it needs to be. As a Parent Governor for my local secondary school, I find it very useful to be involved with the decision making process in a large organization. It offers me the opportunity to get a 360 degree perspective on the way educationalists strive to offer a broad and balance curriculum. Alongside my knowledge of education, personal family experiences, professional roles and some would say my sheer bloody mindedness and determination I can be a force to be reckoned with to ensure youngsters and their families give their best to create the happiest, most fulfilling life possible and that the system can be flexible enough to allow that to happen.

Geoff serves as the Treasurer for the charity. His background is in business-focused IT, and brings a commercial focus to delivering IT strategies closely aligned to business strategy, delivering projects and programs of all sizes to enable business improvement or transformation, and enhancing customer service through effective delivery of operations and support. He is an excellent strategist and change agent, able to see the ‘big picture’, with a calm and methodical approach, and an all-round nice guy who would like to serve our families in his role as Treasurer and board member.

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.

Ralph and Isabel Easterbrook, Trustees

Our first son, Ieuan, had health and developmental problems almost from the moment he was born. He missed all of his growth targets, and was a nightmare to try to feed. He constantly had colds or chest infections.

Despite numerous and wide-ranging tests, the underlying cause remained undiagnosed. Matters progressed to the point where Ieuan, then 4 years old, went into heart failure, around 3 months after the birth of his brother, Alex. The heart failure was treated, Ieuan was sent home.

Alex, although seemingly healthier and more robust than his brother, was obviously jealous of all the attention being given to Ieuan. So a month after Ieuan came home from hospital, Alex went into heart failure.

After Alex had been treated and was on the road to recovery, it seemed logical to look into a common genetic cause. After further investigations, we were informed that both boys had "Barth Syndrome". We were so lucky to have been looked after by doctors and consultants who had close links with Bristol Children's Hospital, and so were aware of the work being undertaken by Dr. Colin Steward and others, with diagnosis being the key to survival and treatment.

We have subsequently become part of what we call the Barth Family; just to know that others had gone through the hell we had (and worse), and had not just suffered but taken positive action to put in place medical treatments and support structures for affected children - and now adults - seemed like a miracle.

Now, we feel that it's our turn to step up and give something back into what has given us so much as a family.

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.

Volunteers

Suzy Green, Fundraising Volunteer

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.