Communion Of Dreams


Looking back: Testing…testing…

While I’m on a bit of vacation, I have decided to re-post some items from the first year of this blog (2007).  This item first ran on March 18, 2007

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There’s a very good piece in today’s New York Times titled Facing Life With a Lethal Gene about one young woman’s decision to be tested to see if she carries the gene for Huntington’s Disease.

It is a very difficult decision to be tested for a genetic disease which you may have, and for which there is no known treatment (let alone a cure). If you test positive, you know exactly the sort of future you face. And, if you test positive, it can have a significant impact on your employment and insurance possibilities, even decades before you might experience any onset of symptoms.

There is a similar disease which runs in my family called Machado-Joseph. In terms of statistics, there is about a 68% chance that I carry the gene for it, though I do not have the other familial characteristics which seem to track with the disease. So I have elected not to be tested. Besides, at nearly 50 years of age, if I did have the onset of the disease, it would be likely that it would progress so slowly that I would die of something else (the younger the age of onset, the more rapidly the disease progresses).

Anyway, I recommend you read the article. Because as the science of genetic testing develops, it is likely that at some point you will have to make a decision about whether or not you are tested for either a genetic disease or a predisposition towards some type of health problem. Better to consider the matter before being confronted with it. Trust me on this.

What does this have to do with Communion? [warning – spoilers ahead]

The book’s history is premised on a flu pandemic about 40 years prior to the story. This pandemic not only killed hundreds of millions outright (and threw the world economy into complete chaos, resulting in hundreds of millions more deaths) , it left most of the survivors sterile – and did the same to most of the resulting children born. This is a recipe for extinction.

I chose this scenario for several reasons, not the least of which is that I think we are due for a world-wide pandemic sometime in the next decade. But also my family history and personal choice came into play – long before there was a genetic test to determine whether or not I carried the MJD gene, I made the decision to be childless. I felt at the time that the risks of passing on the disease were just too great. Not having any progeny leaves one with a sense of loss, even if it was a decision made for the best of reasons. I could only surmise that the effects of imposed childlessness population-wide would be even more profound.

And, [again, spoiler alert!] the psychological impact of the transformation which comes at the end of the book, through the agency of the alien artifact, would be a very literal rebirth for the entire human race. Not only do we give birth to a subsequent species in the form of the AI/Expert Seth (who achieves true sentience, midwifed by the artifact), but the entirety of the effects of the pandemic are cleansed – meaning that humankind has a second chance, and can start afresh. The hope is, of course, that we will do better the second time around.

So, go read the article.

Jim Downey

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Why do it, then?
April 20, 2011, 12:30 pm
Filed under: Alzheimer's, Government, Health, Machado-Joseph, NPR, Science

The National Institute on Aging has come up with new research guidelines and two new clinical diagnosis relating to Alzheimer’s. From the NIA news release:

For the first time in 27 years, clinical diagnostic criteria for Alzheimer’s disease dementia have been revised, and research guidelines for earlier stages of the disease have been characterized to reflect a deeper understanding of the disorder. The National Institute on Aging/Alzheimer’s Association Diagnostic Guidelines for Alzheimer’s Disease outline some new approaches for clinicians and provide scientists with more advanced guidelines for moving forward with research on diagnosis and treatments. They mark a major change in how experts think about and study Alzheimer’s disease. Development of the new guidelines was led by the National Institutes of Health and the Alzheimer’s Association.

From NPR coverage of the news:

The new definitions, which were just published online by the journal Alzheimer’s & Dementia, acknowledge this dimly understood early phase of Alzheimer’s. Now there are two new pre-dementia phases: mild cognitive impairment and “preclinical Alzheimer’s.”

In mild cognitive impairment, a person’s changes in thinking are noticeable to himself, friends, or family. They would show up on tests of memory and recall, but don’t interfere with everyday activities. Alzheimer’s is just one possible cause. Because there are no treatments to prevent or stop Alzheimer’s, many people may not consider this diagnosis a blessing.

The second new phase, preclinical Alzheimer’s, is much squishier. There’s no list of symptoms that a doctor can whip out to say you’ve got it. Rather, the goal in creating this category is to see if scientists can define when the disease starts, and track it through biomarker tests, brain imaging, or other yet-to-be-invented tests. If that happens, it might someday lead to ways to prevent Alzheimer’s. But for now this category is useful only to researchers.

As I noted four years ago, I have faced the question of whether to be tested for a disease I may have, but for which there is very little in terms of treatment options (and no cure). From that blog post:

It is a very difficult decision to be tested for a genetic disease which you may have, and for which there is no known treatment (let alone a cure). If you test positive, you know exactly the sort of future you face. And, if you test positive, it can have a significant impact on your employment and insurance possibilities, even decades before you might experience any onset of symptoms.

There is a similar disease which runs in my family called Machado-Joseph. In terms of statistics, there is about a 68% chance that I carry the gene for it, though I do not have the other familial characteristics which seem to track with the disease. So I have elected not to be tested. Besides, at nearly 50 years of age, if I did have the onset of the disease, it would be likely that it would progress so slowly that I would die of something else (the younger the age of onset, the more rapidly the disease progresses).

That said, I have told my sister (who has the disease) that if her doctor wants to do the genetic test on me in order to have that additional bit of information, I would do so.

And I suppose that is where I come down on the issue of whether or not to do any of the new testing for Alzheimer’s: if it will help science better understand this disease, how it develops, and to chart possible treatments, I would participate. It may not be something I could benefit from myself, but I have to look at the bigger picture. I think we all do.

Jim Downey



Sleep is the default.

It’s now been three months since Martha Sr died.

You’d think by now that I’d be caught up on sleep. You’d be wrong. As I look over the last few month’s posts I note that time and again that I mention sleep. It is still the default that I want more, more, more. Even when I’ve gotten a good night’s sleep, and am not fighting any kind of cold or flu, a nap in the morning or afternoon tempts me. For someone who thinks of himself as energetic, productive, it kind of goes against the grain. For someone who has a backlog of work running to years, it can be a little maddening.

Yet, sleep is still the default.

* * * * * * *

My sister called the other day.

Thirty pounds?  Wow. Be careful.”

I assured her that I wasn’t trying to overdo anything. That it was just my body moving back towards a natural set-point, as mentioned in that blog post.

But she has a good reason to be concerned: in our family, weight loss is one of the markers for the onset of the family genetic curse, Machado-Joseph disease. To be honest, this is one of the major reasons that I have always felt a little comfortable in being a bit overweight – it provided some sense of protection against the disease (which was very poorly understood or even known as I was growing up). That’s not how it works, of course, but it was always there in the back of my mind. If you’d lived with seeing what the disease does, you’d be willing to risk obesity, too.

* * * * * * *

Go back to any of the entries from last year under the tag Alzheimer’s, and you’ll see that one of the most common things I talk about is just how tired I was. For years – literally, years – my wife and I had taken turns being “on call” each night, lightly dozing while listening to a baby monitor in Martha Sr’s room. On those nights you’d barely get anything which amounted to real rest. When you weren’t “on call” sleep usually came, but wasn’t as easy or restful as it could have been – having your partner there more or less awake next to you all night wasn’t that conducive. Sure, there were naps whenever we could squeeze them in, but I would still say that my average sleep per 24 hour period was probably about 5 hours, maybe 6. Things did improve once we had a health aide three nights a week, but by then we were in hospice care, which had its own stresses and demands.

* * * * * * *

ATLANTA – People who sleep fewer than six hours a night — or more than nine — are more likely to be obese, according to a new government study that is one of the largest to show a link between irregular sleep and big bellies.

* * *

The research adds weight to a stream of studies that have found obesity and other health problems in those who don’t get proper shuteye, said Dr. Ron Kramer, a Colorado physician and a spokesman for the American Academy of Sleep Medicine.

“The data is all coming together that short sleepers and long sleepers don’t do so well,” Kramer said.

The study released Wednesday is based on door-to-door surveys of 87,000 U.S. adults from 2004 through 2006 conducted by the National Center for Health Statistics, part of the Centers for Disease Control and Prevention.

Surprise, surprise.

* * * * * * *

I’ve got a pretty strong work ethic. And it was shaped by conventional standards: get up, go to work for 8 -10 hours, come home. That’s not how I work – hasn’t been for years – but it is still the baseline instinct for me, the initial criteria I use for whether or not I am “getting things done”. So it is frustrating to feel sleepy and want a nap. That doesn’t pay the bills, get the backlog under control, get the next book written or the ballistics research written up.

Three months. Seems like a long time. And our culture doesn’t understand grief well, nor leave a lot of room for recovery that takes time. We expect people to “get over it”, to take a vacation and come back refreshed. It is part of who we are – part of who I am.

But I try to listen to my body. It is naturally shedding the excess weight I put on, now that regular sleep and exercise are again part of my life. Realistically, it is only halfway done – I’ve another 30 pounds or so to go to get back to a point which I consider ‘normal’ (though that’s still about 20 – 30 pounds heavy for me, according to the ‘ideal’). Does that mean I have another three months of wanting naps all the time? Yeah, maybe. Maybe more. I’ll try and give it that time.

I’ll try.

Jim Downey



Testing…testing…

There’s a very good piece in today’s New York Times titled Facing Life With a Lethal Gene about one young woman’s decision to be tested to see if she carries the gene for Huntington’s Disease.

It is a very difficult decision to be tested for a genetic disease which you may have, and for which there is no known treatment (let alone a cure). If you test positive, you know exactly the sort of future you face. And, if you test positive, it can have a significant impact on your employment and insurance possibilities, even decades before you might experience any onset of symptoms.

There is a similar disease which runs in my family called Machado-Joseph. In terms of statistics, there is about a 68% chance that I carry the gene for it, though I do not have the other familial characteristics which seem to track with the disease. So I have elected not to be tested. Besides, at nearly 50 years of age, if I did have the onset of the disease, it would be likely that it would progress so slowly that I would die of something else (the younger the age of onset, the more rapidly the disease progresses).

Anyway, I recommend you read the article. Because as the science of genetic testing develops, it is likely that at some point you will have to make a decision about whether or not you are tested for either a genetic disease or a predisposition towards some type of health problem. Better to consider the matter before being confronted with it. Trust me on this.

What does this have to do with Communion? [warning – spoilers ahead]

The book’s history is premised on a flu pandemic about 40 years prior to the story. This pandemic not only killed hundreds of millions outright (and threw the world economy into complete chaos, resulting in hundreds of millions more deaths) , it left most of the survivors sterile – and did the same to most of the resulting children born. This is a recipe for extinction.

I chose this scenario for several reasons, not the least of which is that I think we are due for a world-wide pandemic sometime in the next decade. But also my family history and personal choice came into play – long before there was a genetic test to determine whether or not I carried the MJD gene, I made the decision to be childless. I felt at the time that the risks of passing on the disease were just too great. Not having any progeny leaves one with a sense of loss, even if it was a decision made for the best of reasons. I could only surmise that the effects of imposed childlessness population-wide would be even more profound.

And, [again, spoiler alert!] the psychological impact of the transformation which comes at the end of the book, through the agency of the alien artifact, would be a very literal rebirth for the entire human race. Not only do we give birth to a subsequent species in the form of the AI/Expert Seth (who achieves true sentience, midwifed by the artifact), but the entirety of the effects of the pandemic are cleansed – meaning that humankind has a second chance, and can start afresh. The hope is, of course, that we will do better the second time around.

So, go read the article.

Jim Downey