Russell Stevens

Raising money for Barth Syndrome UK

Fundraising for Barth Syndrome UK
raised of £1,000 target
Barth Syndrome UK

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RCN 1181830
We support families & fund research to improve the lives of affected people


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At the beginning of September I’m going to be swimming solo swim across the English Channel, a 21 mile swim across the busiest shipping channel in the world.


In November 2019 our families world was turned upside down when my sister Charlotte took a phone call from a geneticist advising us that following participation in 100,000 genomes project It was discovered that  my nephew Jack has an extremely rare condition called Barths Syndrome.  Charlotte wasn't given much information during the call and luckily for Jack and our family she turned to google and Facebook and discovered The Barth Syndrome Charity in the UK.

The help and support we have received from the charity and the service in Bristol so far has been amazing and we honestly don’t know how we could have got through this without them.  They have supported Jack with numerous visits to school where they have educated his teachers and have been contactable at all times with any questions we’ve had.  We were also lucky to attend the UK family Day where we got to meet other families in the same position as us. 

The service and support the medical team in Bristol provide is charity funded and would not be possible without financial donations.  Jack has benefitted so much from the charity and we know we will need so much more from them and so that’s why we’ve decided to raise as much money as we can to support the charity and hopefully one day find a cure.

Barths Syndrome is an extremely rare condition with just 30 cases in the UK and around 300 worldwide. It is a life limiting illness which effects mainly boys and men.  Barths Syndrome means that the sufferers have issues with 

  • Heart muscle weakness (cardiomyopathy)
  • Neutropenia (lack of white blood cells needed to fight bacterial infections)
  • Fatigue and general muscle weakness
  • Growth/feeding issues

Jacks Story

Jack was born in August 2005, he had a low birth weight but was generally ok. As the weeks progressed we knew something was wrong. Jack would sleep lots, hated feeding, was constantly very sick and would scream for hours. As the years progressed Jack still didn’t eat, had very slow growth and low weight, and looking back now a lot of respiratory infections.

We saw many doctors within lots of different hospitals and departments but in 2007 we were seen at Great Ormond Street hospital and it was discovered that Jack was severely hypoglycemic.  He was diagnosed with Laron Syndrome but it was always said the genetics didn’t line up completely and that more testing had to be done. In 2009 Jack started to have episodes where his lips would turn blue and after being referred to a cardiologist he was diagnosed with a heart condition. 

Looking back now we have a diagnosis of Barths Syndrome it seems so clear this is what he had but I guess we were just unlucky no one pieced it together.

Since diagnosis we have met with a couple of the medical team that look after the Barth patients at Bristol Children’s Hospital and we have been lucky to introduce Jacks school to some of the team which has allowed the school to understand the condition more and Jacks needs and where he needs more help. 

The future holds many uncertainties and unfortunately covid-19 lockdown has meant Jack had to shield for 5 months and we will also have to wait a while for further tests to find out if any further family members are carriers/sufferers of Barth Syndrome. 

As a family we have pledged to raise as much money as possible for a small charity that make a massive impact to the Barth Community.  

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About the charity

Barth Syndrome UK

Verified by JustGiving

RCN 1181830
Barth syndrome is a complex and life threatening genetic condition that affects the heart, immune system and growth. Our children and adults struggle with extreme fatigue, sudden heart arrhythmias and recurring infections. Help us to fund research and to find a cure for this devastating condition.

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+ £862.50 Gift Aid
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