Gene test saves baby from heart condition that cursed father, uncle and great grandfather
BABY Joshua Bill’s uncle and great-grandfather were killed by a devastating heart condition.
His father Paul and grandmother Anne also needed heart transplants to save them after being diagnosed with the same defect.
But thanks to the world’s first gene test for the illness, 15-month- old Joshua is completely healthy.
Mr Bill, 33, convinced doctors to carry out genetics research to try to find out what was causing the family’s condition, dilated cardiomyopathy.
They succeeded in isolating the gene behind the fault, which leaves the heart enlarged and less able to pump blood. This paved the way to develop the test for embryos to ensure the gene is not passed on to the next generation.
Now other couples facing the same risk could use the test to ensure their babies are born without the defect.
‘Every time I hold Joshua, I feel so incredibly lucky as I know he will never have to go through the nightmare of a diagnosis of heart failure, or live in fear of what the future holds for his health,’ said Mr Bill.
‘Our family has been absolutely devastated by this. Losing my brother changed
‘Now this condition ends with me’
my life and losing my grandfather to the disease, as well as my mother and I both having life-saving heart transplants, was a family legacy that I could just not bear to have passed on to my children.
‘Thanks to the work of geneticists and doctors, it ends with me.’
Paul and his wife Kim, of Solihull, West Midlands, had a cycle of IVF which resulted in nine embryos, all of which were tested for the heart defect.
Three had the fault and one was not viable. Of the remaining five, three were ultimately viable and one was implanted in Mrs Bill’s womb.
The procedure was a success and nine months later, the couple welcomed baby Joshua into the world. The couple’s remaining healthy embryos have been frozen.
Mr Bill’s mother Anne, 62, was diagnosed with dilated cardiomyopathy, some forms of which are hereditary, when he was three and his brother Nick was only nine months.
Her symptoms had been tiredness and dizziness plus feeling at times like her heart was racing. ‘That led our parents to make a pre-emptive decision to get us tested as they suspected her condition might be hereditary,’ he said.
‘ We had blood tests and cardiograms and the consultant immediately told me I also had a very early stage dilated cardiomyopathy and my brother had even milder symptoms. But that did confirm that it was hereditary.
‘ He recommended that every six months we should have an echo-cardiogram and they kept an eye on us.’
While Mr Bill was studying computer science at Oxford Brookes University in February 2004, aged just 19, his health suddenly took a turn for the worse. Playing tennis in a university team match, he felt shorter than usual of breath and lethargic.
He was sent to hospital as his condition rapidly deteriorated.
Just five weeks later, he had
‘So lucky to have him’
a successful heart transplant. He has gone on to play tennis in the British Transplant Games three times.
But tragedy struck the family three years later when his brother Nick suffered sudden heart failure.
Despite doctors’ best efforts he suffered complications during surgery and subsequently developed septicaemia, eventually passing away aged only 21.
The health of Mr Bill’s mother started deteriorating when she was 59 while on holiday in France in April 2014. After two false alarms in a month, she underwent a successful heart transplant in May.
Speaking about the gene test, Mr Bill said: ‘I wanted to understand the probability of the condition being passed on and if anything could be done to prevent this.
‘I went to the Queen Elizabeth Hospital Birmingham and they referred me to an expert in hereditary diseases.
‘I received a call just before Christmas saying “We’ve managed to isolate the gene, it’s a missing protein in a strand of DNA”.’
Doctors then took a year to develop the test.
‘Sometimes I catch myself looking at [Joshua] feeling so lucky… lucky to be alive, lucky doctors managed to find the gene fault, lucky to conceive first time, and so lucky to have a healthy, wonderful son,’ said Mr Bill.
The family is speaking out to help the Heart In A Box appeal to buy a cutting- edge piece of equipment for transplants at the Queen Elizabeth Hospital Birmingham. Find out more and donate at www. qehb. org/heart