The number of people who have the gene that causes Huntington's disease in Northern Scotland has been accurately counted for the first time in 35 years in new research from the University of Aberdeen in partnership with NHS Grampian.
The research used NHS family-based records to find that there are more than 160 adults living in the area who have the Huntington’s gene but have not been tested.
However, the scientists behind the study believe the figure will be even higher as not everyone with Huntington’s disease symptoms seek diagnosis.
The study, published in Neuroepidemiology, confirmed that Northern Scotland has one of the highest rates of Huntington’s disease in the world at 14.5 per 100,000 people, it is more than five times the estimated worldwide rate of 2.71 per 100,000 people.
Huntington’s disease runs in families, and every child of someone affected has a 50:50 chance of inheriting the gene. The gene slowly damages the brain, eventually taking away the person’s ability to walk, talk, eat and drink, make their own decisions and care for themselves.
The new analysis showed that, on average, every person who has been diagnosed with Huntington’s disease will have at least another 2.2 relatives who have the gene. This means there are hundreds of people in Northern Scotland who could be considered for effective treatments for Huntington’s disease when these become available in the future.
The research was led by University of Aberdeen’s Professor Zosia Miedzybrodzka who is also NHS Clinical Lead for Huntington’s disease in North of Scotland (covering Grampian, Highland, Orkney, Shetland, and the Western Isles), based in NHS Grampian, alongside Heather Cruickshank, Genetic Counsellor in NHS Grampian.
Previous studies have mainly looked at the number of people who tested positive for the Huntington’s disease gene then estimated the number of relatives at risk using statistical modelling. However, in this study, scientists used family tree clinical records to count how many people have a 50:50 chance of having inherited the neurodegenerative condition but, crucially, have not been tested.
This meticulous approach has not been used in the UK since the Huntington’s disease gene was discovered in 1993.
The authors stress how important it is to generate a clear picture of the number of people with Huntington’s disease in the region to ensure that care planning objectives are met and reinforces the need to invest in specialist care and support to help people impacted by what is a notoriously complex and difficult to manage condition.
Professor Miedzybrodzka said: “Previous work looked at how many people in the area have been tested for Huntington’s disease, that is people diagnosed with Huntington’s disease signs and those with a gene alteration that will develop the condition in later life. However, no one has properly counted just how many people who haven’t been tested yet must have the gene.
“It is crucial that we know this number, and that it is accurate, so that health boards can properly plan now for care, and for treatments when they become available in the future.
“A 2022 Scottish government report underestimated Huntington’s disease rates and did not account for numbers of people at risk in a way that our clinic and lab data has.”
Heather Cruickshank added: “In 1989, when scientists previously studied this, testing was not possible, fewer people had a diagnosis of Huntington’s disease, and families were larger.
“But even now, despite high rates of testing, most people at risk of developing Huntington’s disease in Scotland have not had a test.
“There is a massive worldwide effort seeking treatments for Huntington’s disease.
“Going forward, services need to plan to treat these as yet uncounted people, as well as those currently diagnosed. Regional variations in rates will become more important, including genetic counselling and testing, management, and treatment delivery. Furthermore, better knowledge of the numbers of people who could benefit will encourage investment into drug discovery.
“Having a test remains a free choice for people from Huntington’s disease families and our research means that care can be planned for all those at risk, without people who don’t want a test having one.”
Commenting on the findings of the study Chief Executive Officer of Scottish Huntington’s Association, Alistair Haw, said: “Earlier this term a Scottish Parliament motion calling for an expansion of specialist Huntington’s disease services in light of rising cases became the most supported motion in the history of devolution. This latest study further strengthens the case for immediate action to expand specialist services for families impacted by Huntington’s.
“Huntington’s disease is a hugely complex, widely misunderstood and extremely difficult to manage condition. Specialist services are not some 'nice to have' optional extra but an absolute necessity to prevent patients reaching crisis point and presenting to acute emergency statutory services. Specialist Huntington’s services need to be expanded urgently – a message further reinforced by this new and clear evidence which has major implications for health and social care providers throughout Scotland and beyond.”
Case Studies
Brian Watt, 69, Hopeman
Brian Watt, 69, of Hopeman in Moray, is living with a Huntington’s disease diagnosis.
Former manager of the Chivas whisky distillery in Keith, Brian received the diagnosis in 2016.
Brian recalls: “I knew there was Huntington’s disease in my family – my father and my sister were both diagnosed.
“I wasn’t sure whether to go ahead with the test, but I am glad I did.”
Brian received counselling – offered by NHS Grampian's Huntington’s disease clinic in Aberdeen - before taking the test and he felt this was ‘hugely important’ and ‘absolutely necessary’ to be able to process the news regardless of the result.
Almost immediately after receiving the news that he has the gene, Brian set about organising a support group in his local area for people with Huntington’s disease and their families. The group is still going strong as a Branch of the Scottish Huntington’s Association and has helped support more than 30 families in the Moray area.
Brian keeps busy and believes a positive outlook to be vital when living with Huntington’s disease: “It could be tempting to just lie in bed all day and feel depressed about having this disease. But you have to keep going – keep busy doing things you enjoy.”
Brian walks his two terriers along Hopeman beach every day, works part-time at Moray Motor Museum in Elgin and organises quarterly meetings of his support group.
Brian says: “Zosia said to me the best way to manage Huntington’s disease is with a balance of lifestyle, attitude and medication and I think that is spot-on. I try to keep a healthy lifestyle and positive attitude and I’m doing just fine.”
Alexander (Sandy) Patience, 62, Inverness
Sandy Patience, 62, originally from Avoch on the Black Isle lives in Inverness with his wife Laura whom he describes as a ‘blessing from God.’
Sandy was diagnosed with Huntington’s disease in 2017 and recounts in his own words how the disease has blighted his family throughout his life:
“My childhood as a young boy was shaped by going to see my grandmother - my mam's mother, who was also HD positive, in hospital every single Saturday from when I was 8 to when I was13 years old.
“My dear mother then struggled with HD until she passed away when I was 21 and she was only 59 years old. I remember it began when I was just a young boy, and I watched her get progressively more unwell.
“After that, my dear sister Helen passed away with HD in August 2020 after more than two decades of struggle. Helen was a very special sister to me. When our dear mam passed away in1984, Helen - being eleven years older than me, tried really hard to be a 'surrogate mother’ to me after our hearts were broken about mam. But tragically, HD in our family is never far away.
“Helen, very sadly never married, for obvious reasons to me. She was very intelligent in school where she won the Dux Medal, and then in her working life until HD put the brakes on that which devastated Helen at the time. I loved Helen, and my beautiful wife Laura was just the most special sister-in-law to her, not to mention, a perfect daughter in law to my amazing dad who passed away in 2013 aged 89 years.
“My dad's heart would have been shattered if he was still alive when I got my diagnosis four years after he passed away. His long life of struggles included fighting a World War for five years, and being full-time carer for mam for two decades with no help from social care. I remember it like yesterday. The pain I feel for mam and dad in those forgotten decades will never leave me.
“But even with all of that, our family was full of love. My dear late mam was shaping my life in so many ways, and I am incredibly proud to have the same loving genes in myself - as well as the bad stuff that I refuse to name unless to raise awareness.
“I remember how I felt on the way home from Aberdeen after I had been diagnosed in Dec 2017. I said to Laura ‘this is a game changer in our twenty years together - please can you leave me and live the rest of your life with someone else.’
“But, by the Grace of God she didn't, because her love for me is as immense as mine for her. We are very very blessed, and I can't imagine life without my soulmate by my side, she picks me up if I am feeling down and tells me when I am behaving like a donkey - sometimes several times a day", he laughs.
Even with the difficulties Sandy has faced, he remains fiercely positive, he explains: “See, life is what we make it for me and Laura.
“For sixteen wonderful years, from April 2006 until August 30th 2023 I had two soulmates in my life. My dear wife Laura and my wonderful Labradoodle, Rollo. He never left my side - on the couch or at my feet on the bed. He read my mind a million times over. He loved me a million times more every single day. He loved Laura and all our family, he loved my late Dad, Helen, and brother, David unconditionally for many years with his huge loving heart. I have been emotional about all my family many times when Rollo was beside me on the couch and he would be nudging me and saying: 'it's ok Dad, I am here to make you feel better'. He always always did. I miss him more every day.
Sandy was overjoyed to find out that his daughter, Kim tested negative for the HD gene: “By the grace of God, my own daughter Kim tested negative about a year after my own diagnosis. Now we know that my three beautiful grandchildren are safe from this horrific disease. Our tears at Kim's negative test was something I waited all Kim's life to witness, it was something truly amazing. It was something I prayed for a thousand times over since I knew the risks for Kim after my own positive test.
“I can fight for my own life now because I know that I am the last person in my family gene pool with this HD positive test result.”
And fight Sandy does: “I am fighting so much to crush it every single day, every moment of every day. The more I fight, the more I look to God for my future health and happiness. I truly don't want to change anything about my life. I intend to be in the same place - body and mind.
“I am privileged to be asked by Professor Zosia to help her again with raising awareness for HD issues. She is incredibly knowledgeable about everything HD, caring for all her patients and their families.
“This is a fantastic opportunity for other people, just like me, to take a big leap forward and consider testing for HD. Obviously, I was devastated about my own diagnosis, but I am certain, no doubt in my mind I have done the correct thing for myself and Laura and our family.
“I want everyone to know that testing positive is not the end of the world, it may even be the beginning of better family relationships and countless other positive things.”