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Genetic testing: two case studies

How testing helped two families with inherited genetic conditions

    ‘My Parents had Tay-Sachs children

    Lara Murray’s family know only too well about the heartbreak that can result from passing a genetic disorder onto a child.
     “My mum and dad lost two children to Tay-Sachs before they had me,” explains the Borehamwood 43-year-old.

    Her parents knew nothing about Tay-Sachs or genetic testing. “They were shocked and devastated when they discovered their first child had the condition. She passed away at two years old.”

    Her mother then had a son with Tay-Sachs, who died at 18 months.

    “What do you do when you have been through something like that? It is horrifying and doesn’t bear thinking about. You would give up.”

    With the lack of awareness around genetic illness in the 1960s, her parents had no support.

    Fortunately, they were alerted by a doctor to a test they could undergo to check before birth if a subsequent child had the condition.

    “They were brave enough to give it a go and luckily everything was fine and I was born.”

    Mrs Murray says that, because of her parents’ experience, testing has always been at the forefront of her mind.

    “I went when I was 18. When I found out I was a carrier, I was fine. It just meant I had the information I needed.”

    She adds that it would never have stopped her getting together with her husband. “If he had been a carrier, too, it would have just meant that we were aware of the risks and could test for them in early pregnancy.”

    She now wants their 18-year old son to get tested. “People have to have it done.”
     

    I found out I was a carrier

    North Londoner Mark and his wife were trying for a baby when he discovered he was a carrier of glycogen storage disease, 
    which causes enlarged liver and kidneys and impaired growth.

    “It isn’t what you want to hear – that something could go wrong with the baby.”

    He had always appreciated the importance of genetic testing but it had not previously seemed necessary.

    “I knew about testing from being at university. We were told about it a lot, being from the Jewish community.

    “But it costs quite a bit to get tested so it just wasn’t something I was thinking about doing then. Two-hundred quid for a student is a lot of money.”

    It was after he got married — and a friend discovered he was a carrier for cystic fibrosis — that prompted a change of heart.

    “I am quite pragmatic about these things. I don’t like to worry. After the results came back we had my wife tested.

    “We would both need to be carriers for the condition to given to the baby and the results came back that she was not.”

    He says the testing at Northwick Park Hospital was “the easiest thing. All they do is test your saliva.

    “The doctors explain everything and put you completely at ease. There should be no reason for people to fear it.

    “Surely it is better to know so you can avoid a horrible situation for you and your child.”
     

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