Hunter's story

In March 2008 Hunter was diagnosed with Idiopathic Dilated Cardiomyopathy, a disease that causes weakening of the heart muscle. The cause wasn't certain, but a letter in 2024 from Prof Jim Flett Wilson of Viking Genes revealed that Hunter had inherited a variant in the TTN gene, which put him at risk of developing dilated cardiomyopathy.

If I knew then what I know now. How many people have said that in later life? 

In June 2024 I received a letter from Prof Jim Flett Wilson (Viking Genes Study) to say that I had a variant in the TTN gene which put me at risk of developing dilated cardiomyopathy. This, in itself did not come as a shock or a surprise. Instead, it explained why I was diagnosed with Idiopathic Dilated Cardiomyopathy back in March 2008 – a disease of that causes a weakening of the heart muscle.  At that time, I was told that it could have been triggered by a virus which seemed to fit as my health deteriorated quickly after a bad virus. Genetics was mentioned as a possibility, but it was early days in genetic research. This new revelation from the Viking Genes Study now confirmed that my cardiomyopathy was hereditary and consequently my children were at risk as there is a 50% chance that this faulty gene would be carried over to them. And what about my grandchildren? 

As advised, I got in touch with the NHS Clinical Genetics Centre at Aberdeen Royal Infirmary who repeated the DNA swab test and confirmed that I had the TTN gene variant. The Viking Genes study had established that this variant had been passed down through my father’s line, although I wasn’t aware of him having any symptoms of cardiomyopathy. However, since he must have carried this gene my sisters and my cousins on my father’s side all had a risk of carrying this variant. Consequently, my immediate family and my first cousins were offered DNA tests by the Aberdeen Genetics Centre to see if they were at risk. 

Viking volunteer Hunter

Back in March 2008, I went to the doctor after suffering from shortness of breath while running to catch a train. The symptoms had been getting worse over the previous few months. Several visits to the doctor ensued, as I was continuing to feel bad with shortness of breath and bloating. When the x-ray results showed an enlarged heart, I was told not to drive but to go straight to the local hospital . The following morning, I was in an ambulance heading to the Serious Heart Failure and Heart Transplant Unit at Glasgow Royal Infirmary. My wife had been discretely told that I would be lucky to last five years and most of that time would be in an armchair. My denial that there was anything wrong with me was eliminated when an echocardiogram indicated that my ejection fraction (a measure of how well the heart is pumping) had dropped to 9%. When I asked the operator if that was bad, he calmly said, 

If it drops to 5%, you’re dead. 

It was thought-provoking to look out my window at the graveyard at the back of the hospital. In the front door and out the back door. That wasn’t in my plan. I was in rapid decline, and if only I had my heart checked out earlier I wouldn’t have been in this situation.

Due to excellent medical care, I slowly recovered without requiring a heart transplant. I now had an ICD (Implantable Cardioverter Defibrillator) installed which has kept me alive through potentially lethal cardiac arrythmias (abnormal heart rhythms). My ejection fraction improved slowly and by 2011 it was close to 50%, which is close to normal. I retired from work in 2014 and my wife retired soon afterwards. We have lived a full life and travelled extensively. There have been highs and lows throughout. I learned to listen to my body and act accordingly. My experience has taught me how important it is to embrace life, family and friends.

So why is it important for you to volunteer to be genetically tested? My experience is that maybe if I had known sooner that I had this TTN gene variant, and had been monitored earlier, my diagnosis and recovery would have been quicker, and less damage would have occurred to my heart. Since this is hereditary, you also have to consider your family. Although there are likely to be some unlucky ones like me, not everyone is seriously affected, and if you are found not to have the variant, that is good news! Treatments are improving all the time and there is hope that there will be a cure for this condition in the future. 

In the meantime, I am still here to tell my tale eighteen years after being diagnosed. 

 

If you’d like to read more about this research, visit the link below.

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results

Read The case for genetic screening in Shetland to find out why we have launched the fundraising drive for Viking Genes Shetland - Shetland Community Screening Project 2025-2029.

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