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

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Board & Staff

Michaela DaminFounder and Chief Executive, Michaela Damin tells her story

 

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.

 

Cheryl Parish (Trustee) and Geoff Parish (Treasurer) 

 

From Cheryl: I have worked with young people all of my life, from running a preschool, to teaching primary children,to serving as a parent governor for my local secondary school, 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 daughter 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. 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 was in business-focused IT, which brought 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.

 

Kelsey Doran, Trustee

 

 

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.

 

 

Ralph Easterbrook (Chairperson)and Isabel Easterbrook (Trustee)

From Ralph: 'After serving for some years as a trustee, I now find myself Chair of BS UK. I feel truly honoured and privileged to work with such dedicated, caring individuals. This includes Issi, my wife, whose constant support has proved a tower of strength'.

 

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. 

 

Suzy GreenSuzy 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.  

 

Paul Ford, Trustee

 

I recently retired from a career in the City of London, the last 20 years of which was at a commodity trading business.

 

Months before my retirement, our grandson, Mackenzie, was diagnosed with Barth Syndrome. BSUK has already helped my extended family in many ways and I am delighted to be a Trustee and have the opportunity to help provide practical support to our community, generate better outcomes for those affected and work towards the cure or treatment I firmly believe can be found.
 

 

 

Volunteers

 
We rely on volunteers to accomplish our ambitious goals and would welcome your help.  Please visit our Volunteer page for more information.

 

 

 
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