PHIL’S STORY

In September 2021, I hope to celebrate my 70th birthday. Nothing too significant about that, perhaps, but it’s something that I thought I might never see, after finding myself in hospital with a brain haemorrhage in 2012.

Phil Northumberland-2020

Up until the age of 60, I’d lived what might be termed a ‘normal’ life, unaware that I was carrying a genetic mutation that increased my risk of having strokes and – ultimately – vascular dementia. My medical journey began one evening when I abruptly experienced an unusual and penetratingly painful headache. Assuming it would eventually pass, I literally crawled up the stairs to bed, took painkillers, and spent a fitful night drifting in and out of troubled sleep.

The next day, my headache – only marginally better – was still there. But I could not focus my vision on any reading material, failed to strike the correct keys on my computer keypad, and mispronounced words when attempting to speak. A CT scan at my local A&E department soon confirmed that I’d had a brain haemorrhage, and I was transferred to a specialist stroke unit at a London teaching hospital.

DIAGNOSIS

Neurologists were puzzled as to why I’d had a stroke: I was otherwise a fit and healthy person, with no obvious risk factors such as high blood pressure; and I had never smoked in my life. An MRI provided the initial clue – there were unusual cavities in parts of my brain, notably in the lesser known ‘white matter’ regions that govern cerebral connectivity. Disruptions to white matter can severely impact normal brain function, and – significantly – certain patterns of white matter disease are characteristic of a condition called CADASIL. A genetic test confirmed the provisional diagnosis.

CADASIL

CADASIL is an acronym, standing for Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy.

Put simply, it is an inherited condition that causes strokes and related impairments. Its cause is a mutation on the NOTCH3 gene of chromosome 19, which – after birth – has a key role in maintaining the integrity of small arterial vessels. A mutation (the specific form may vary) causes muscle cells in arterial walls to disintegrate over time, leading to a loss of blood supply in the region supplied by the blood vessel concerned. Small arteries throughout the body may be affected, but it is vessels within the brain where the effects manifest themselves most seriously. If one parent carries the genetic mutation, then each child of that parent has a 50% chance of inheriting it too.

There is currently no treatment for the condition, so medication is aimed at reducing general risk factors associated with stroke. Often, a statin – perhaps in combination with a small daily aspirin – is prescribed. Evidence suggests that smoking may advance disease progression by about 10 years, so that would be an obvious change to make. A healthy lifestyle of sensible exercise and nutrition is also recommended.

PROGNOSIS

The age of symptomatic onset – plus the severity of the condition – can vary significantly, even for affected members of the same family. Generally, however, symptoms begin at around 45 to 50 years of age, although related migraines can appear as early as in your 30s. I seem to have been one of the lucky ones, in that symptoms did not manifest in any noticeable way until my sixth decade. Following my stroke, I initially found it difficult to walk and talk simultaneously and would pause before trying to answer any question. But I steadily recovered both my physical and mental capacities, and no one would now ever guess that I’d once had a stroke.

Phil Lake District

It’s been physically and psychologically important for me to maintain regular exercise, and – prior to the pandemic – I attended my local gym twice weekly. During the prolonged period of gym closures, I extended my regular walking activity, typically covering between 20 and 30 miles a week. For mental stimulation, I enjoy reading, editing a quarterly philosophical magazine, and have also taken several free online academic courses.

There are a small number of Facebook groups for CADASIL patients and their relatives or friends. The Cadasil Support UK group on Facebook currently has over 800 members, some of whom are located in places other than in the UK. For the past few years, we’ve had an annual conference at Addenbrooke’s Hospital in Cambridge, and I gave a talk on my experience of the condition at the 2019 meeting.

More information on the condition can be found here and in the CADASIL Support UK website here.

TO LEARN MORE ABOUT PEOPLE LIVING WITH RARE CONDITIONS, WATCH THE UK’S OFFICIAL RARE DISEASE DAY VIDEO. IF YOU WOULD LIKE SHARE YOUR OWN EXPERIENCES, PLEASE EMAIL [email protected].

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