We Are All Genetically Programmed to Die

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.

Severe migraines were the first sign of the reduced blood supply to Bonnie's brain.

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.

Fountain of Eternal Life, Cleveland, OH

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.

Diapers on the line

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.

Resources
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

About Joanne Barker

Joanne Barker is a healthcare writer and editor who lives in Somerville, MA.
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15 Responses to We Are All Genetically Programmed to Die

  1. Aunt Donna says:

    This is a great reminder that death is inevitable. Even if we know that it may be close, we still are unable to pinpoint the exact time. Planning is hard. But cells do wear out. Plants and mammals die. It’s humbling.

    • Hi Donna, You would know, given what you do for a living. I think it’s one of those wonderful things/wrenching things about the human spirit, that (for many or most people) there is such a strong resistance to letting go.

  2. Barbara Hunt says:

    I am assuming Bonnie’s parents are asymptomatic. However, have Bonnie’s parents been tested for CADASIL? There are some who do not have symptoms until very late in life even though they have the notch 3 mutation. There is literature out there that supports l-arginine to increase blood flow to the brain. http://www.ncbi.nlm.nih.gov/pubmed/18537053 Jack Shields promoted the use of l- arginine to slow the progression and easy migraines.
    There is a wonderful support group on facebook for those touched by CADASIL(both patients and families.. It is “CADASIL Support” the one with the globe icon. Please join us there.

  3. Juli Star-Alexander says:

    I am living with CADASIL, as is my sister, brother, nephew, cousin and uncle. 22 family members remain untested. I have lost many family members already.

    What was missed in the article is that so much can be done to avoid making CADASIL worse, and many things can be done to have an easier course of the condition. People at risk for it but who don’t want to test can act as if the have it for self-protection. Some people don’t show major symptoms until much later in life, and so the statistics quoted are rather grim, unnecessarily so. People can remove it from their family tree through in vitro insemination.

    What is also missed is that the medical community, not understanding that this genetic systemic condition affects our entire bodies, not just our brains, easily add to our disability and earlier than necessary demise by putting us on medsthat are wrong for us. That they are unaware is covered here. That they generally don’t bother to learn more is anecdotally true.

    CADASIL is different in everybody, even within a family.

    That’s my two cents worth!

    • Thank you for your two cents worth, Juli! What I found interesting when I heard Anne’s story was how complex the decision to test or not test is — much more so than most people realize. Your advice for people who decide against testing to live as if they have it is very sound.

  4. Frederica Schilling says:

    I also have CADASIL. I was diagnosed in 2008. I have 2 biological sons, who have not been tested. I know that one of my sons, along with his wife; have the same attitude as Pete and Anne about the whole situation. They will take whatever comes their way. They are not concerned about being screened before having children, just as they wouldn’t have if I didn’t have CADASIL.

    • Thank you for weighing in, Frederica. I’d be interested to know more about what led up to your diagnosis. Are other members of your family affected? Did you go through a period of weighing your options or were your symptoms pretty far along? I wish you and your sons the best.

      • Frederica Schilling says:

        My mother likely had CADASIL. She passed away in 2004 with leukemia, but was never diagnosed. She was treated for many of the health problems that she had, some of which may have not been the best treatment for her if she had CADASIL. She passed at the age of 65.

        I was diagnosed with CADASIL at age 46, after having an unexplained health episode led me to two months of many, many tests. I was, by a miracle, led to a neurologist who just so happened to have heard of CADASIL during her residency and thought she should test me for it after hearing my family history and seeing my MRI.

        After my diagnosis, a neurologist told me that it would likely take me a full year to digest the diagnosis. That doctor was right.

        I deal with the symptoms I have as they come. The worst I deal with are depression/anxiety and migraines. I see a psychiatrist and psychologist regularly. I also take a bevy of medications, which have to be tweaked on a regular basis, as my CADASIL changes. My team of doctors is great, but the CADASIL family that I have found on the Facebook Support Group is truly a God Send to me. They offer me the support that I cannot get from anywhere else. They truly understand and I can be myself. I can cry, laugh, talk and offer comfort to others there. The research being done by members is unbelievable and now another Conference this year being organized by a CADASIL family member. I can’t imagine going through this without them for the support they offer me when I am down. I love them all dearly.

        I do have 2 brothers and 1 sister, but they have to this point chosen not to be tested. My oldest brother does not want to know, because there is nothing they can do. He says that he will have any symptoms treated if they come up. Next brother wanted to make sure all the ducks were in a row, as far as long term insurance, were in order, but now he’s not sure he wants to know. I think my sister is just in denial.

        • Thanks for sharing your story, Frederica. What an odyssey. I’m glad you found an informed and (from the sounds of it) compassionate neurologist who could recognize the symptoms and prepare you for the emotional impact of the diagnosis. I truly wish you and your family the very best. -Joanne

  5. Stephanie says:

    I absolutely believe in not allowing this illness to rule your life. But, if there is a possibility a person has it, they should take care to be extra healthy. It just might make a difference later on. It runs in my family, and while I have chosen to have a family, I also try my hardest for us to be as healthy as possible. You can check out my blog at http://www.wonderfulmess.com.

    • Good point about working extra hard to be healthy, something all of us could take to heart. I know a lot of people who say things like, “If I found out I had 6 months to live, I’d start smoking again.” Not to imply that a Cadasil diagnosis means 6 months to live. This is a comment about how cavalier people can be when a situation is theoretical vs real.

      By the way, great blog. I was exhausted for you when I read your most recent post and the garage sale tips are great. I can’t believe you got a brand new toaster oven!

  6. Green Bananas says:

    I had to decide the same, before my 30th birthday. I decided to get tested. That was seven years ago. Many say with an incurable and untreatable disease that there is nothing you can do, so why get tested? But there are many things to avoid and NOT do because of the risk; which could be equally as powerful to know the results. I started a blog about my decision to get tested or not at http://www.idontbuygreenbananasanymore.blogspot.com. Please join the discussion if you have a genetic illness and want to know how getting tested will impact your life.

    • I love your blog, Sara. You have so many great insights. I especially love this comment you make: The one thing that I have learned through the years is to respect each family member’s own way of coping with the news.
      In talking to Anne and thinking about my own feelings about her story, it really became clear that whether or not to get tested is a very personal, individual decision.

      Best of luck with your book. I will be looking for it!

  7. Laura Gabriel says:

    I am 33 years old and was diagnosed at 27/28 years old. I suffered a mild stroke in April 07 and was officially diagnosed with cadasil in August 2007. Both parents untested and my brother has not been tested. I hate what cadasil has done to me. Constant migraines, depression, mini T.I.A’s & unemployment and with GP’s that know nothing or very little about the disease, I struggled to find any kind of financial support.

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