Chris, 71, from Cambridgeshire, carer for his wife Ann (see Ann’s story) who has Cadasil
“Our biggest adjustment has been to the news that our daughter has a fifty per cent risk of Cadasil”
My wife Ann was diagnosed last autumn (2017) with the Notch 3 gene.
She had been suffering a range of symptoms over the years that made little sense at the time, including transient ischaemic attacks (20 years ago), a stroke (1 year ago), increasing fatigue and tiredness together with gait/balance problems. Despite this, she has retained full mobility and can walk several miles despite struggling to get upstairs or in and out of cars. She also suffers panic/anxiety in unfamiliar settings or with unclear tasks (e.g. she fears the London tube). Her cognitive ability and memory remain good.
When she was diagnosed, there was nothing new to come to terms with because we’d even guessed the hereditary element (her father, brother and son all suffered migraine, blackout or stroke symptoms).
But the ‘giving of the name’ was significant – the life horizon seemed foreshortened, especially on reading a few academic papers on outcomes.
From my perspective as a carer, I found the impact of receiving the diagnosis was mainly on our attitude. To suffer from a little understood condition with multiple but widely varying symptoms is not great for morale. We continue to lead lives that are rewarding and interesting but Ann is seriously circumscribed by tiredness and worries about future events and their implications.
As full time carer, I’m struggling with the inevitable tensions and troubles caused by the upsetting of our familial roles and relationship.
Our biggest adjustment since the diagnosis has been to the news that our daughter has a fifty per cent risk of Cadasil; and that if she has it, each of our grandchildren has a similar risk.
At one level this feels like a terrible curse, but at another, my wife had no symptoms before she was 50; and is still living a good if limited life at 71. So why waste energy and emotion on a possible medical condition that you can do nothing about?
My wife’s brother and our daughter have both hesitated to be tested – until there is the prospect of medical intervention to reduce the impact of a faulty gene, or to replace that gene, there seems little point.
We remain fairly objective but there is a cloud over our family as it was not before. But, of course, I could die of a stroke tomorrow, despite no track record of symptoms. People do. I worry now who might care for me in the future.
The attitude of NHS (UK state-
Despite good support from friends, we are very fearful of the future. Will future demands be beyond us? Will our own relationship be subjected to unremitting pressure?
On the positive side, there are worse things to suffer from in general; and my wife’s case seems to be marked by relatively late onset and relatively mild symptoms. But like all chronic illness, it’s tough.
|2018 CADASIL conference
|2017 CADASIL conference