“Yeah, Mum’s had a stroke”.

It was November 1998.

“Nobody wants to get that phone call,” Patrick Clementson said.

“And, although I wasn’t completely surprised it had happened, Mum didn’t fit the classic profile of a person who was likely to have a stroke. Her cholesterol level was good, her diet was great, her blood pressure was fine, she wasn’t overweight, she barely drank alcohol, but she smoked a little.”

In the back of his mind, Patrick knew his mother’s Mum had endured several strokes in her lifetime, eventually becoming bedridden and suffering from severe dementia. And that history alone is a strong risk factor.

The neurologist who treated Patrick’s Mum in hospital was initially puzzled as to why she had had a stroke. In the absence of almost all of the known risk factors, her family history became a very strong part of the investigation, as did the fact she had been having blinding, almost cluster-like headaches for some years.

“That neurologist took those crumbs away with him and came back within a few days with a tentative diagnosis. He told us that he thought Mum might have CADASIL,” says Patrick, “a term that was completely meaningless to us at the time.

“In 1998, a skin biopsy sample examined under an electron microscope was the only way to confirm a diagnosis of CADASIL, which we had come to learn is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy,” Patrick said.

When the confirmation came back, it was both a relief and, as it turned out, a damnation at the same time. A relief because it explained why his Mum had experienced her headaches and stroke, a damnation because her prognosis was not good. And each of her four children had had a 50 percent chance of inheriting it at conception – that’s the Autosomal Dominant part.

“Such mixed news shook us up, there is no doubt about that. We were told that CADASIL is a rare, progressive neurodegenerative disease that affected only 400 families in the world, mostly in Europe. An early death was the ultimate outcome and there was no treatment to slow its progress and no cure,” Patrick said.

CADASIL is a type of Small Vessel Disease (arteriopathy) that affects the vascular smooth muscle cells (VSMC) of small to medium size arteries, particularly those in the brain (Cerebral) known as the deep penetrating arteries below the brain’s cortex (Subcortical).

Healthy VSMC is essential to control the dilation and contraction of arteries. In CADASIL, this auto- regulation is compromised and those special cells become degraded, leading to both thickening of the artery walls and a narrowing of the lumen (the part through which blood flows), often causing the artery to occlude (close up on itself). And when that happens, you have a stroke (Infarct) – there is no clot involved. Accumulative small strokes over the years can lead to dementia.

And Leukoencephalopathy is damage to the white matter in the brain. White matter is primarily comprised of nerve fibres which are covered in protective sheaths called myelin, which is a whitish colour.

The arteriopathy causes 40-60 percent of people with CADASIL to have migraines, normally with aura.

“I began to have such migraines in my mid-twenties. They were awful. My first one began with pins and needles in the fingertips of my right hand, followed shortly thereafter with numbness. This sensation then moved progressively up my arm into my head and then all the way through my body down to my toes. It was scary. Not long after, I was hit by a massive headache, which lasted several days.”

Migraine with aura became a regular feature of Patrick’s life for almost the next 25 years.

Almost always, they began with parasthesia (the sensation described above), either partial or complete on the right side of his body, which lasted up to 30 minutes. The migraines that followed then lasted anywhere from a few days up to the worst of them at two weeks long.

“It was a feature of my disease. There were no triggers. The disease itself caused my migraines. And I missed a lot of work because of them!”

Patrick is now 54 years old. He chose to be tested in 2006 and, as he expected, CADASIL was confirmed.

“I knew I had it, I could just tell, so the news wasn’t unexpected. Nevertheless, it was upsetting to know for sure.”

Patrick has since learnt much more about the disease. Thousands of families worldwide are now known to have the disease. And not everybody is affected the same way – an early death isn’t always the case.

“My GP often says I will probably die with CADASIL, not from it. Not everyone with CADASIL gets all of the symptoms, and people have different experiences, even within the same family.

“Some suffer badly, both in terms of the number of symptoms they get and the severity of those symptoms. Some deteriorate quickly, others can live a long life. It seems that I have a fairly benign version of the disease, despite having a small stroke in February 2017, and it is progressing slowly, so I’m thankful for that,” Patrick said.

CADASIL is the most common genetically-inherited form of stroke.

“This disease may not be so rare after all and people need to know of its existence, especially in cases of people with chronic migraine with no known triggers, and in cases of unexplainable strokes and/or early onset dementia. Even within the medical profession, it is not well known – it has even been misdiagnosed as multiple sclerosis at times.

“My mission now is to raise awareness of this disease, which is thought to be under-diagnosed, perhaps even greatly so. To that end, I have created a website https://www.thisiscadasil.org and I blog – irregularly – under the title CADASIL – My Journey With A Rare Brain Disease at https://thecadasilblogbloke.wordpress.com.”

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