Belfast Telegraph

Wednesday 23 July 2014

Living with a deadly inheritance

Brother and sister Andrew and Allison carry a faulty gene. She has had a heart transplant and he desperately needs one. Now his two children have the gene too. The family tells what’s it like

Close family: Andrew Duncan and his wife Suzanne

Seeing a family member with an illness can be challenging at the best of times. But when a loved one is diagnosed with a potentially fatal condition due to a faulty gene from yourself, it can be a devastating realisation.

Londonderry man Andrew Duncan has lost count of the number of relatives who have developed a life-threatening heart condition due to a rogue gene passing from generation to generation within his family.

He has seen many of his relatives die young as a result of developing cardiomyopathy, for which the only chance of survival is a heart transplant.

Andrew's dad Ernie inherited the gene from his father and died aged just 40. It also passed to his dad's cousins, whose children then inherited it.

Such has been the high occurrence rate of the disease in the Derry family that they were the subject of a major international study a few years ago by a private gene-testing company in Canada.

As a result of the study the Canadian company was able for the first time to identify the gene and develop a test which could determine which family members have it.

Andrew, who is waiting on a heart transplant, had to face the news that his two children also now live with the threat of developing the condition as they too have inherited the gene.

He, his sister Allison Duncan and their cousin Karen Kirkwood -- who both have undergone a heart transplant -- reveal what it is like to live with this life-threatening condition and just how vital it is for people to consider donating their organs to help others.

ANDREW Duncan (37), has had a powered machine fitted to his heart to keep him alive while he waits for a heart transplant. He is married to Suzanne (40) and they have two children, Aimee (14) and Robbie (12), who have both inherited the gene. He says:

I was 23 when it hit me and developed very quickly. I have Crohn's disease and had just come through bowel surgery during Christmas 1999 but in the New Year I went downhill fast.

In 2001 I was sent for transplant assessment to Newcastle but I had been walking and swimming to try and keep as active as I could and they said I was too well for the transplant so they would keep me under review.

Then, in 2011 I deteriorated again quite badly and I got a call to say that a heart donor had been found but unfortunately after they took the heart out there was a problem with the left ventricle and they couldn't transplant it.

I was so bad in 2012 that surgeons had no choice but to fit the machine around my heart to pump blood through my body as they said my window of opportunity was closing. My children were tested some years ago and both have the gene and that's not the easiest thing to deal with.

We can only hope by the time they grow up that there will have been even more medical advancements and treatments but you can't dwell on it, you have to get on with things.

It restricts your life in every way. It is the simple things that are hard. I can't bend or reach to pick things up. I can't walk up slopes or hills or steps, I have to keep to the flat.

I have studied for engineering exams and it's horrible not being able to work. I can't wait to make good use of my studies and get myself a good job but I can't do that until I am well enough and get my transplant.

I have a great family and my wife has given me wonderful care over the years. It is 14 years since I was diagnosed and to mark it I walked around the city's Peace Bridge this month to raise funds for the British Heart Foundation's Ramp Up the Red campaign.

It was only a couple of miles but it was like a marathon to me. Lots of people came out and supported me and walked with me, which was great, and we have raised around £2,000.

I am a very determined person. I will get the transplant. I don't let anything beat me. You just keep on fighting."

ALLISON Duncan (41) is mum to Duncan (15) and Laurie (12). She underwent a life-saving heart transplant last May. She says:

Everybody in our family was regularly screened because of the genetic link. When my son was born I had an echo cardiogram which, because of a clerical error, hadn't been seen and was filed away.

When Duncan was a toddler I decided to try for my second child and I had Laurie. I had a good pregnancy but after her birth I had a terrible time, I passed out and couldn't sit up and had palpitations. My GP asked to see my file and it was only then it was discovered that I had developed cardiomyopathy three years earlier and nobody knew.

It turned out to be a blessing in disguise and I feel so lucky because if I had been told at the time I would never have put my body at risk to have another child and leave Duncan. So I'm grateful because it gave me Laurie. You have to look at life like that, if something bad happens to you then you have to make good from it or you will never be happy. It's the only way you can come through a condition like this.

Both my kids were tested and when I had the letter saying they didn't have the gene, I cried tears of joy. I was given medication and after that it's a hoping and waiting game and you hope that you won't get too bad too quickly.

I knew last year I was going downhill and getting sicker and sicker. I was breathless going from one room to another and I couldn't even wash my own hair. I always had really long hair that went right down my back and I couldn't lift my arms above my head to wash it properly so I had to get it cut short.

I went to Belfast City Hospital for a routine appointment last May and they admitted me.

They stabilised me and a week later I was flown by air ambulance to Freeman Hospital in Newcastle. I thought I was going for assessment for a heart transplant but they put me on the list as urgent and four days later I was having transplant surgery.

I was completely unprepared for it, I didn't even have enough clothes or pyjamas with me and my fiance, Andrew Hicks, was like a rabbit caught in headlights, he was just so shocked.

It was absolutely terrifying. You know you are going in there and it is life or death. With a heart transplant if something goes wrong there is no going back.

Once they cut your heart out of your chest that is it.

I don't even know myself how I managed to deal with it. Looking back now I put on a smile and joked a lot and made a lot of friends over there. It was my way of coping. I know if I had thought too much about it I would have broken down.

I feel like one of the luckiest people alive. Unfortunately, there are not enough donors out there and so many people have to die waiting on a transplant.

I'm very grateful to be given that chance of life and a decent quality of life for my children.

The heart came from a woman in her 40s who died of a head injury and I cried about that. I mourned her and I am so thankful to her family for donating her organs.

I was home within five weeks and I got the CMV virus which made me very ill but I've picked up again and I am doing fine now.

It could flare up again but my quality of life is a lot better and will continue to get even better.

I look at my brother Andrew, who is waiting on a transplant, and it breaks my heart. I have watched him deteriorating and sometimes I feel guilty that I got a heart and he has been so sick for such a long time and there is nothing for him. That's the way it is on the transplant list. To anybody reading this I would urge them to think about having the conversation with their family about their wishes on organ donation.

It's not nice to think about or talk about but if you are willing to donate and don't let your family know your wishes then when it comes down to it and something happens, the organs won't be donated. It is only a five-minute conversation and it can save lives."

KAREN Kirkwood (47) was given 24 hours to live before a donor heart was made available and saved her life. Her mum, Caroline Ritchie, who was the sister of Andrew and Allison's dad, died from cardiomyopathy when she was in her fifties. She has one daughter, Megan (19). She says:

I was diagnosed in 1998 when I was 31. My mum died when she was 52 and my only sister Andrea (40) also has the gene and she has a defibulator and will eventually need a heart transplant.

My daughter is due to be tested this year so we don't know yet if she has inherited the gene.

At the start, when I was diagnosed, it was managed by medication and it was not too bad but gradually you find you can't do normal, general day-to-day things like walking or lifting or doing housework. It got to the stage where I had no quality of life.

It was tough because Megan was very young and there was so much I couldn't do with her. I couldn't even go shopping with her.

I had been to Newcastle for assessment for a heart transplant but was told that my heart was still good enough and I wasn't ready.

I had a defibulator inserted in 2001 and then in November 2004 I took a chest infection. They had to remove the defibulator and before Christmas a fella flew over from England with a life vest -- which was like a defibulator only you wore it on the outside.

I was still very sick and they couldn't let me home for Christmas so Megan had to come to the Royal Victoria Hospital and stay over there with me on Christmas night.

Then on January 3 they rushed me by air ambulance to Freeman's Hospital in Newcastle. I was so ill they gave me just 24 hours to live.

I arrived in Newcastle on the Tuesday and on the Thursday they got a donor and I had my transplant and I haven't looked back since. It all happened so quickly that I didn't have time to think about the surgery.

I do remember thinking I was going to die and saying to the staff in the hospital 'Please don't let me die'.

I was very lucky that I got a donor so quickly but unfortunately somebody had to die to give me a second chance.

You can never ever thank them enough for giving you an organ and saving your life. So many people think they are not suitable for organ donation and really when you need a life-saving organ you are just so grateful for it.

I was in hospital for five months which was tough as I was separated from Megan and she was only 10 at the time.

Your life is on hold when you are waiting for a transplant. I worked as a catering assistant and had to give that up.

Now my quality of life has improved immensely and just being able to get out and about again and walk and do housework is great.

Being able to see Megan grow up is wonderful.

She is working now and driving and just being here to see that and have been able to see her doing well at school means everything.

I still go to Freeman's Hospital four times a year for a check up but I've been given another chance and feel so lucky that I got my transplant and a donor was found on time."

WHAT IS CARDIOMYOPATHY?

* Cardiomyopathy is a condition in which the heart muscle becomes enlarged, thick or rigid.

* In rare cases the muscle tissue in the heart is replaced with scar tissue.

* As the condition worsens the heart becomes weaker which can be fatal.

* Cardiomyopathy can be acquired (it develops due to another disease or condition), or can be inherited (your parents passed the gene for the disease on).

* In many cases, the cause of cardiomyopathy isn't known, but it is thought that factors include drinking too much alcohol over a period of time or viral infections which cause inflammation of the heart muscle

* For details on how to join the organ donor register, visit www.organdonation.nhs.uk, call the NHS Donor Line on, tel: 030 0123 2323 or text SAVE to 62323

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