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

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Helen’s story

Our precious son, William, was born in 1989 after a normal pregnancy but failed to gain weight and was a very 'floppy' baby. At 16 weeks he would not feed and dilated cardiomyopathy was discovered through an X-ray and cardiac catheter. We thought, “Oh great, medicines for the rest of his life and maybe he won't be a professional footballer, but we can cope!” Little did we know!!!!!!!


William was referred to Great Ormond Street Hospital in London (GOS - also called God's Own Spot!!). An outpatient’s visit turned into an 8 week stay. William was seen by many doctors and had countless tests. I wanted to wrap my baby up and just take him to the safety of our own home. We were told that William needed an urgent heart transplant.  We waited for a donor and tried to live normally. Gradually between frequent infections and colds he improved. He was taken off the active transplant waiting list. For a while he did quite well, although he was much smaller and weaker than other children. As new parents we could not make comparisons and put his weakness down to poor heart function.


When he was nearly two, William’s health deteriorated rapidly. When a heart became available we were rushed with a police escort to GOS. Thankfully the transplant worked, giving William a second chance.


Will was 4 years old and I was pregnant again. A cardiologist at GOS phoned having just read about Barth syndrome. The main detail I took in was that only boys were affected.  Luckily, I was carrying a girl, Eleanor. We struggled to find out more and to understand the ‘medi-speak’. At the time the gloomy prospect painted for boys with Barth syndrome frightened us and we never searched again! This couldn’t affect our son!


A few years later, we were referred to see Dr Colin Steward in Bristol. He explained how rare the disorder was, how he came to be interested in it, and most importantly that he thought the symptoms could be treated successfully. He seemed to know and understand Will. Then we had a phone call from Michaela and heard about the Trust. At first I was very sceptical. We had coped with William all these years. What could BST offer us, now? Immediately we had an affinity with Michaela and her family and finally we had found someone who also understood and experienced what we were going through.


Will caught HIB (haemophilus influenza) in 2001 and was in Intensive Care for three weeks. Now babies in this country are vaccinated against it, but that came in when William was too old. He had multiple organ failure, and surgery to remove some perforated bowel. It took him a year to recover his strength; he missed school and was left with poor kidney function. As he was already immuno-suppressed, dialysis was not an easy option. Another transplant reared its head, only this time, we could do something! His dad was able to give Will one of his kidneys.


It is now more than ten years since the transplant using a kidney from his dad, and both 'my boys’ have come through with flying colours! William’s slow growth still causes us concern, but doesn’t bother him. At least all his doctors are on his case.


We have helped William to lead as normal a life as possible. During his last year at school he received the ‘Diana, Princess of Wales Memorial Award for Young People' for 'succeeding against the odds'. Will went on to College after school to take a BTEC course in Art & Design, completing the first year, but finding college life not for him and sadly left before completing the second. He gained employment, working in an office four days a week, but after eighteen months was made redundant after the closure of his Department. He’s now working for Cartridge World, refilling computer cartridges and working in the shop. He copes well with the job, still working four days a week and enjoys the day to day life of work.


He passed his driving test during college and has turned into a real petrol head, I’ve lost count of the number of cars he has had, but he has his independence although he still lives at home.


I still get quite emotional when I write our story. If I can do my bit by raising awareness and supporting families, then I know that the knowledge I have had to gain over the last 22+ years will not be wasted. Being able to help gives our experience some meaning.  There is someone at the end of the phone or computer who understands what you are feeling.


Helen is an active volunteer for the Barth Syndrome Trust. She is currently the Trust secretary, and also works to raise awareness of the disorder. Her fundraising efforts are also much appreciated.


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