we are all genetically programmed to die 6.2.12
Less than two years after Anne got married, her husband’s parents called with the news that his sister had a rare brain disorder and he might too. At first, the news changed everything. And then, in a lot of ways, it changed very little.
Pete’s sister, Bonnie (not her real name) had been diagnosed with Cadasil, an inherited condition in which blood vessels to the brain become thick and congested. Usually migraines are the first sign that the brain is trying to make do with a reduced blood supply, typically around the age of 30 or 40. Anne’s sister-in-law was 48. Her diagnosis came after a period of train-stopping migraines and an MRI that revealed early brain damage.
One of the hallmarks of Cadasil is a series of mini-strokes that kill tiny portions of the brain. Bonnie’s damage is clustered around the lobe that Cadasil targets first. Over time, this damage will accumulate and cause progressive dementia. By the time Bonnie is 60 or 65, she will likely depend on her family to manage her every need. By that time, she might not even know who they are. “Cadasil takes away every aspect of a person’s life and personality,” says Anne. “You can’t remember. You can’t talk. You can barely walk.”
Now Pete and Anne face the question — should Pete get tested?
Here are the facts:
Cadasil is exceptionally rare. So rare that when Anne called her physician friends for advice, they had to look the condition up.
There is no cure. People like Anne’s sister-in-law can manage symptoms but can’t do anything to subvert their own downward slide.
Neither of Pete’s parents have Cadasil. This too is incredibly rare. Most often, Cadasil passes down through families. Bonnie got very, very unlucky. The only way to know if Pete is equally unlucky is to submit to a test that will show whether he has the same unlikely mutation as his sister.
If You Knew You Would Die
Like many people, Anne used to think that if she could look into her future, she would. If you listen to the adage, knowledge equals power, knowing when and how you will die gives you time to prepare. You can do all the things you’ve been putting off: tell people you love them, take a trip around the world, learn to meditate.
But life is more complicated than that.
As one of Anne’s friends told her, “we are all genetically programmed to die.” Most of us just don’t know when or how. Maybe it’s a state of denial, but life in the modern world has a hint of eternal life. Death is inevitable yet also somehow avoidable, at least in our imaginations. Pete and Anne have an option most of us never have, to remove the mystery of if and how Pete might die and they’ve decided not to.
‘We’ve revisited our decision many times,” says Anne. Knowledge does not necessarily equal power if you can’t do anything about it. If Pete’s brain is programmed to follow the same slow death as his sister’s, he and Anne could only sit and wait for it to happen. Nothing — no pills, no surgery — can prevent Cadasil or even slow its progress.
Life in the Present
Pete is younger than his sister by eight years. He does have occasional migraines, mild ones. If he knew he had Cadasil, every migraine would come with its own shadow of doom. He and Anne would ask themselves, “Is this it?” They don’t want to live like that, though in many ways now they can’t help it.
There’s also the fact that Anne and Pete wouldn’t change anything if they found out Pete has Cadasil. They’ve both travelled extensively. They live in a city they love. They have good friends, and had their first child this past year. If Pete has the mutation, his daughter has a 50% chance of having it too. Like many prospective parents, they talked over the possibility that Anne could get pregnant and they could find out the baby had some sort of disorder. At the time, they were thinking about Down’s syndrome. When they found out about the specter of Cadasil, their agreement held — they would move ahead with their plans to start a family.
For now, Anne and Pete are living their lives, enjoying their marriage, taking turns changing diapers. In many ways, the uncertainty in their lives is no greater than anyone else’s. They’re just more aware of it.
Jeffery P. Bishop (Anne’s friend who told her we are all genetically programmed to die.) The Anticipatory Corpse, Notre Dame Press, 2011
Cadasil Information Page, National Institute of Nerological Disorders and Stroke
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukencephalopathy (also known as Cadasil), Genetics Home Reference, U.S. National Library of Medicine
Cadasil Together We Have Hope, Cadasil Foundation