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

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A grandmother’s story

Our story began 14 years ago in South Africa when my first grandson Nicholas was born. This grandmother was positively bursting with pride, joy and love! I remember holding him in my arms and straight away feeling a special connection with him. You can imagine our distress when 12 hours after he was born he was whisked away to Intensive Care with a suspected heart problem and pneumonia. For 48 hours it was touch and go but already that tiny baby was showing us all his strong will to live and thankfully, he survived and was discharged two weeks later.


Everything was fine for about a month. Then he started to tire and sweat during feeding and he cried all the time. My daughter, Michaela and her husband, Marco spent the next six weeks going from doctor to doctor but no cause was found. At 3 months, he was rushed back to hospital with severe heart failure. The doctors said he wouldn’t last the night but again Nicky proved them wrong. He refused to give up and so did we. The whole family kept a vigil at the hospital.  Nicky’s condition remained critical for days. The doctors thought that his heart problem might have been caused by a viral infection. He was in hospital for 6 long weeks and finally Michaela and Marco were at last able to take their precious son home. He went home on a portable oxygen machine and with a feeding tube, through his nose to his stomach.


The months that followed were so terribly hard for the young parents. Nick was in and out of hospital and we just lived through one crisis to the next. He struggled with episodes of severe diarrhoea and vomiting and bouts of bronchiolitis. He was on oxygen at home and continued to feed very badly and to be very behind in his growth.


Nicholas was 14 months old when the family came back to the UK. Shortly afterwards, Nicholas was put on the heart transplant list. Six months went by and no suitable donor was found but, thankfully by then, his heart function had improved dramatically. He came off the active transplant list and went on a “wait and see” list. As his heart function had improved so much, doctors thought it must have been a viral infection that had attacked his heart. Life started to become a bit more “normal”. Even though Nicholas’s heart was a bit better, he still had other strange symptoms that didn’t add up. He was still very short for his age, with weak muscles and a low immune system that led to many infections requiring hospitalisation.


He was almost 3 years old when we finally got a diagnosis. Nicholas had Barth syndrome. But what was Barth syndrome? We were only told that it was a rare and complex life-threatening condition for which there was no cure. Then started my daughter’s and her husband’s long and painful quest for information and knowledge in order to keep their son alive.


Nicholas is now 14 years old. He is in secondary school doing extremely well. We all regularly attend the Barth clinics and BST Family Days in Bristol and we find these a wonderful source of quality information and support for the whole family, as well as a lot of fun! 


Through necessity, my daughter, Michaela became a “Barth expert” and was the driving force behind the formation of the Barth Syndrome Trust in the UK in 2004.


I am of course very biased, but I have to tell you that I am very proud of her and in awe of what she has achieved so far and what she intends to do in the future.


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