A rare condition killed my brother – I’ve been diagnosed with the same

Luan Pope

Published December 21, 2024 1:00pm

Travelling home on the Tube after a routine day at the office in 2003, aged 32, the tell-tale tingling in my fingers and buzzing in my face forewarned of an oncoming migraine.

Having suffered with complex migraines with aura every couple of months since my early 20s, I was not unduly worried; the pain and visual disturbance usually passed after a couple of hours of sleep.

Two days of terrible head pain, inability to sleep and increasing confusion followed, culminating in my brother, Julian, taking me to hospital.

While awaiting triage my vision went and I started shaking uncontrollably. I was put in a side ward where I became semi-conscious, incapable of holding a cup or lifting my arms.

I vaguely recall a medic suggesting ‘hysterical blindness’ and sensing their frustration at the inconvenience I was causing. My last recollection is watching the ceiling roll past as I was being taken for an MRI scan.

Luan Pope: I was diagnosed with a rare condition that killed my brother — I am one of the lucky ones (Picture: Luan Pope)

Five days later, I woke up to see my mum and other brother, Russel, standing over my hospital bed; they had both travelled 200 miles to get there. I knew something serious must be wrong.

A barrage of tests and scans highlighted extensive white matter lesions on my brain, but no real cause or trigger. The event was put down to a severe hemiplegic migraine (a rare type of migraine that involves temporary weakness on one side of the body) and ‘just one of those things’.

I was assured it was extremely unlikely to reoccur so life went back to normal and apart from the usual, occasional migraine with aura, I was well.

My daughter, Molly, was delivered in 2008 by an emergency caesarean section after a three-day-long induced labour. Eight days later, I was back in hospital with another apparent migraine-induced seizure that had started with sudden confusion, inability to use my mobile or to speak clearly. I knew instinctively that I needed my partner to take me to hospital.

By the time we arrived I had started convulsing. My condition worsened and I was transferred to a hospital with a specialist stroke unit where I remained for almost two weeks.

I remember dark hallucinations of dismembered bodies, apparent black spirits behind my bed, believing I had dropped Molly (and that she had shattered into tiny pieces, which despite my best efforts I had been unable to put back together!) and the most terrific pain deep inside my head.

It wasn’t until I was discharged that I discovered Social Services had been in contact with my partner and brother to investigate whether I was suffering postpartum psychosis, or posed any risk to Molly.

After months of follow-up testing, the neurologist finally determined a diagnosis: Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Encephalopathy, otherwise known as CADASIL.

It is a rare genetic condition for which there is no cure or effective treatment. It is caused by a mutation on the NOTCH 3 or, as recently discovered, HTRA 1 gene. CADASIL is often characterised by migraines with aura, mental health issues, ischemic episodes (mini strokes) and cognitive impairment.

It gives sufferers a genetic predisposition to stroke at an average age of 40-50 and 70% of people with CADASIL developing dementia.

What is CADASIL?

CADASIL is a genetic neurological condition caused by a mutated Notch3 or, as recently discovered, HTRA 1 gene. People who have inherited a mutated gene have a 50% chance of passing it on to each child they have.

Although still considered rare, as awareness of CADASIL spreads, diagnosis is increasing significantly.

CADASIL causes anxiety, depression, migraine, recurring strokes, cognitive difficulties and vascular dementia. Families with a history of these symptoms may be affected by CADASIL without even realising it, and may have been diagnosed with a condition that has similar symptoms, such as MS.

CADASIL Support UK is a registered charity that was founded in 2017 to support families affected by CADASIL, and raise awareness of this devastating genetic disease. If you would like to know more about CADASIL, you can contact the charity by emailing info@cadasilsupportuk.co.uk

At the time of my diagnosis, CADASIL was allegedly found in just 400 families worldwide and the two CADASIL comas I experienced only presented in 10% of people with the disease – only two people had ever reported more than one.

The outlook was once so poor for people with CADASIL that the major priority after a diagnosis was to discover its provenance to determine (and ultimately to limit) its spread.

My mum suffered a stroke in her 40s and recurring migraines throughout her life. Her dad died from a heart attack aged 60, and his dad before him (my great-grandfather) had died from ‘valvular disease of the heart’ at a young age.

At the request of my neurologist, Mum was given a brain scan. It confirmed typical CADASIL damage: extensive white matter lesions, lacunar infarcts (evidence of stroke) and cerebral microbleeds.

The areas affected were so extensive, my neurologist was shocked that Mum was still capable of living independently.

Mum is now living with end-stage vascular dementia under my full time care. At 85, she is a fine age for anybody, but she is remarkable for someone with the disease. A CADASIL diagnosis is not always an early death sentence and it is important to spread this message.

After my own diagnosis in 2008, I met with genetic counsellors as any of my children carried a 50% chance of inheriting the disease. I was 11 weeks pregnant at the time, and offered in-utero screening.

Shockingly, I was told that a positive test for CADASIL would mean a termination to prevent the spread of the disease. I politely declined.

Now, where a parent is known to carry the CADASIL gene, IVF is sometimes encouraged.

Back in 2008 the outlook for someone with CADASIL was pretty dire – genetic counsellors told me that life expectancy after the first symptom averaged around 13 years and death would almost certainly occur from a stroke or vascular dementia. I have outlived this prediction by eight years already.

More about CADASIL Support UK

CADASIL Support UK works closely with the stroke research team at Addenbrookes Hospital, who have identified potential treatments for CADASIL but require further funding to develop these.

You can donate to the charity’s Just Giving page to help fund this research

Perhaps surprisingly, I am happy to have received my diagnosis. It has given me the opportunity to overhaul my lifestyle to reduce my stroke risk factors. I do not work, drink or smoke; I follow a vegan lifestyle and take regular exercise.

In the 15 years since, other than migraines, I’ve only experienced one other ‘stroke-like’ event (a CT scan evidenced no actual permanent stroke damage) and which left no long term deficit.

I am one of the lucky ones. Even in the same family, the effects from CADASIL can be very different.

My brother Russel was diagnosed in 2014, aged 47, and heartbreakingly died aged 51.

Eight days after unrelated stomach surgery, Russel was readmitted to hospital after collapsing with head pain, confusion and hallucinations – he had never even had a migraine previously – and a scan showed brain atrophy and CADASIL-typical white matter lesions.

Luan and Molly — Luan and her daughter Molly (Picture: Luan Pope)

Despite knowing our family history, doctors were adamant that Russel’s condition was due to excessive alcohol intake and were highly reluctant to test. It was only after I insisted that a positive MRI confirmed Russel did have the disease.

He suffered from long term depression, a typical symptom of CADASIL, yet his diagnosis was ignored and his treatment was dispassionate.

Three years ago, Julian suffered a stroke aged 56. Genetic testing followed, again confirming CADASIL. He is now suffering with peripheral arterial disease (PAD), but as a smoker he is facing barriers to treatment, despite some medical research establishing a link between CADASIL and PAD.

I’ve found that many clinicians are unaware of this insidious condition, however, and people like my brother are not receiving the support they need.

As teenagers now, my daughters will soon need to consider the option of genetic testing for themselves, especially if they are to think about becoming parents. I will be suggesting some form of psychological counselling beforehand, should they decide to go down the route of testing.

Carrying the burden of a positive diagnosis and its implications could be extremely damaging and the practical implications (insurance and career options, for just a couple of examples) are quite limiting.

It is my hope for the future that as awareness, knowledge and understanding of CADASIL improves, so will the treatment options available and outlook for its sufferers.