Rare brain condition CCM1 behind unexplained migraines

Sitting at his dining room table, Jeffrey Passlow reflects on how living in a rural town as an elderly divorcee can be lonely.

He says these feelings become even more stark when you are diagnosed with a genetic condition so rare even your doctor has not heard of it.

“I’ve been on my own now for maybe four or five years … it can be very isolating,” Mr Passlow said.

The 78-year-old resides at Stockinbingal, a country town that straddles a railway junction about 170 kilometres north-west of Canberra.

It has a population of about 350 people.

A green building, which appears to be in quite poor condition, on the side of the road in a country town.
Stockinbingal is a small village on the outskirts of Cootamundra in southern NSW. (ABC Riverina: Monty Jacka)

In 2018, the former pathologist received a letter that finally explained why he had been suffering from debilitating migraines and seizures since he was a teenager.

The envelope contained the results of a DNA test conducted by a laboratory in the Netherlands, which revealed he had a genetic condition known as CCM1.

“That was the nail in the coffin,” Mr Passlow said.

“I had not heard of it, but, frankly, there are not many people who have heard of it.”

An elderly man with a grey beard stands on the front porch of a home, with his small black puppy on a lead at his feet.
The diagnosis has solved a lifelong mystery for Mr Passlow. (ABC Riverina: Monty Jacka)

‘Innumerable’ abnormalities in the brain

Cerebral cavernous malformations (CCMs) are abnormal, raspberry-like blood vessels that appear randomly in the brain and spinal cord.

According to Neuroscience Research Australia’s neurologist and researcher Simon Rowe, the abnormalities are relatively common, with one in every 200 people estimated to have one.

A diagram showing a raspberry-like CCM in a brain.
Cerebral cavernous malformations are groups of tightly packed, abnormal blood vessels. (Supplied: Alliance To Cure Cavernous Malformation)

Some people will suffer headaches, seizures and stroke-like episodes as a result of the clusters.

However, Dr Rowe said many people would not have any symptoms and could go their whole lives without knowing about the abnormality.

Serious issues arise when a person is diagnosed with one of the genetic conditions known as CCM1, CCM2 and CCM3, which makes them much more likely to develop the malformations.

These conditions are found in about 0.01 per cent of the population.

“People with a genetic form have a higher risk of developing symptoms from it as their specific CCMs are more prone to bleeding,” Dr Rowe said.

Mr Passlow, who was diagnosed with CCM1, has “innumerable” cavernous malformations in his brain and many in his spine.

Even if he underwent brain surgery to remove the abnormalities, they would eventually return due to his genetic condition.

Internet offers lifeline to the isolated

As a result of his condition, Mr Passlow has suffered sudden losses of coordination, raging headaches, violent seizures, and a haemorrhagic stroke.

Beyond these symptoms, he has also faced feelings of isolation and struggled to find people to talk with about his condition.

But Mr Passlow has managed to overcome this battle through weekly video meetings with groups of mostly Americans who also have large numbers of CCMs.

“Thank heavens for the internet,” he said.

An elderly man with a grey beard sitting a desk in front of a computer while looking at the camera.
Helping others navigate their diagnoses has helped Mr Passlow’s mental health. (ABC Riverina: Monty Jacka)

Mr Passlow said talking to other people going through similar experiences helped his mental health dramatically.

He took up a role as a patient expert in the group and spends hours each week helping others navigate their diagnoses.

“I live by myself. I’m an older person … and they’ve just become a big family for me,” Mr Passlow said.

“It makes you feel that you’re not alone and if I can assist someone else, that is as good as anything.”

Megan Khahil, an architecture teacher from Detroit, is one of the friendly faces on the other side of the monitor.

When the 25-year-old was diagnosed with CCM1 in March last year, she became “really depressed” and saw the condition as a death sentence.

Two photos. On the left is a smiling woman in her 20s wearing glasses. On the right is the same woman in a hospital bed.
The meetings helped Megan Khahil realise the diagnosis was not a death sentence. (Supplied: Megan Khahil)

Weekly meetings with other patients like Mr Passlow helped her realise the malformations did not have to control her life.

“We’re all going through this together,” Ms Khahil said.

“It’s nice to have that group just to bounce things off and be there for each other through the good times and the bad times.”

Helping patients navigate ‘unpredictable’ condition

The weekly catch-ups are run by The Alliance to Cure Cavernous Malformation, an American group that operates as an online hub for patients and pushes for research into treatments and cures.

It was formed by psychologist Connie Lee at the turn of the millennium after her daughter underwent four separate brain surgeries to remove CCMs before the age of four.

A middle-aged woman with short brown hair and glasses speaking to two older men at a conference.
Connie Lee says connecting patients is a key aim of the group. (Supplied: Alliance To Cure Cavernous Malformation)

Ms Lee said navigating the “unpredictable disease” drove her to create an organisation that could connect patients and make the experience easier.

“Most of them have never met another person with the diagnosis ever,” she said.

“They can offer each other support, hope and a listening ear, which, for many of us, is just what we need.”

Meanwhile, Mr Passlow has made it his mission to increase awareness of CCMs and the genetic conditions in Stockinbingal and across Australia.

He said this would make the diagnosis less frightening and confusing for future patients.

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