Meeting the dark matter of mental illness

mybeautifulgenome

In the first pages of Lone Frank’s My Beautiful Genome, I discovered that what has always been a mystery is indeed still a mystery.

In a previous post, I talked about my mother’s schizophrenia, and how that had been a factor in whether or not my husband and I would have children.

Chromosome 1

Chromosome 1 (click for larger image)
Genome Management Information System, Oak Ridge National Laboratory
Human Chromosomes from “Human Genome Landmarks: Selected Genes, Traits, and Disorders” Poster, 2002. (Gene Gateway)

Lone tracked down the curmudgeonly and controversial James Watson (who, with Francis Crick, discovered the chemical structure of DNA in 1953) and, among other things, they discussed the heritability of schizophrenia.  Watson’s son has schizophrenia.

After several major studies involving some 50,000 patients, next to nothing is known about the heritability of schizophrenia.

No particular genes were found to be associated with schizophrenia (except in a very small percentage of cases), and the few genetic links found were not the same genes in all patients.

This is known as missing heritability. Lone Frank calls it the “dark matter” of the genome.

Watson and others theorize that the cause of schizophrenia and other diseases and conditions for which there is no obvious genetic inheritance may be due to rare variants – genetic changes not inherited from the parents, but which occur spontaneously in the afflicted person.

With a kind of despair, Watson said it may be ten years before the genetics behind serious psychiatric illness is better understood. This knowledge won’t help his son, of course. But, as Watson says, many people are suffering.

I would like to see the suffering of schizophrenia end, too.

Of course, Watson is a scientist, and he wants to know. So do I. Ten years doesn’t sound long to me, considering I’ve been living with this mystery for nearly fifty years.

This may be an illusion, but if I could better understand the dark matter of my mother’s life, perhaps it would be a comfort. We all want to make sense of our suffering.

I think My Beautiful Genome may be one of the most important books I’ll ever read in my adult life. For me, it’s personal, but it’s personal for all of us.  Genetics is giving us (and our children) powerful information humans have never had before.

Do you want to know what the new genetics could mean for your future health or the health of your children and grandchildren? What can genetics tell us about mental illness? How will knowing our own genome influence our romantic relationships and how we choose the person with whom we’ll have children?

Lone Frank wanted to know the answers to these and other questions. In future posts, I’ll tell you a little bit about what she found out.

Exploring Genetics 

Check out Cold Spring Harbor Laboratory’s DNA Learning Center.

She wanted to decode her beautiful, quirky genome

…we are each of us temporary depositories of information that has an almost eternal life, and which is passed on and on and on…           Lone Frank, My Beautiful Genome

Staring at the luminous model of the strand of DNA on my computer screen, a sculpture of great beauty, perfect function, and masterful design, I wondered. Who is the designer? And is this a question that even makes sense?

I say perfect function but, when it isn’t perfect, there can be disease, pain, suffering. Or simply quirkiness that doesn’t amount to much, just makes you a little different – a bit of rheumatism in your right big toe, for example, so you can’t wear high heels.

My medical librarian colleagues and I were learning how to search the data generated from the Human Genome Project and other ongoing genetics-based research. Our instructor, a bioinformatics librarian with a PH.D. in molecular biology and years of research under her belt, showed us how to look up the gene associated with cystic fibrosis in humans. We found a map of the gene’s location on a specific chromosome and links to places where you can order a clone of the DNA for research.

And over the course of the two-day class, our instructor, who is also a storyteller, told us the tale of research into the human genome, the explosion of data that’s resulted in a very short time, and how far we’ve yet to go.

My Beautiful Genome book coverA few months later, I discovered Lone Frank’s My Beautiful Genome: Exposing Our Genetic Future, One Quirk at a Time and added it to my reading list. Over the next weeks, I’ll be reading and discussing it on Books Can Save a Life as I decide whether or not to explore my own beautiful, quirky genome. I’m reasonably certain I will explore my genome unless I’m persuaded otherwise. It’s not a matter of if, but when. There is so much turmoil and confusion surrounding consumer-based genetic testing, I may wait until things settle down a bit.

The lure of this kind of knowledge – the secret of my own, one-of-a-kind, unlike-no-other-in-the-history-of-the-world genetic makeup – is something I don’t think I can resist for long, though.

As with everyone else, it’s personal.

My genetic make-up was of special concern years ago when my husband and I were deciding whether to have children. We’d gone to a genetic counselor to find out the chances of our children inheriting my mother’s schizophrenia. Fortunately, they were quite low. The counselor could tell us this by simply taking a family history and looking at the heritability data of the grandchildren of people with schizophrenia.

More recently, I was curious to know what the Human Genome Project and other research has revealed about the heritability of schizophrenia, and what a look at my signature genome might tell me. I’ll be exploring that, among other things, as I make my way through My Beautiful Genome.

Possessing this kind of personal genetic knowledge will become commonplace, I believe, and learning how to live with it ethically, in a way that will benefit humanity, will be one of the great adventures of our time.

Do you think we’re overreaching, like the mythic Prometheus? Wanting to know more than is good for us and we can responsibly handle? Please comment if you have thoughts about this.

Mindfulness Meditation

In My Beautiful Genome, Lone Frank talks about how everything we perceive is filtered through our brains, which are influenced by our genes, and how our behavior may be genetically determined. I just happen to be starting a mindfulness meditation class that will take place over the next several weeks. It will be my second time through this type of meditation instruction, a refresher that will bolster the meditation practice I began five years ago. So, while I read My Beautiful Genome,  I’ll also be highlighting some of my favorite books about meditation. If you’ve tried meditation yourself or have a practice, please join in the discussion.

Quote from My Beautiful Genome: Exposing Our Genetic Future, One Quirk at a Time, by Lone Frank, Oneworld Publications, 2011.

Facing your heart of darkness for love: State of Wonder

StateofWonder.jpg

“She was not terrified that the patient would die or she would lose the baby, she was terrified that she was doing something wrong in the eyes of Dr. Swenson.”

 

Ann Patchett’s State of Wonder is about a life severely, intentionally curtailed.

Marina Singh is a successful scientist conducting important research at a pharmaceutical company. Only she knows that long ago she’d bailed out of her own life.

When Marina was a chief resident in obstetrics, she performed a complicated delivery that ended badly. There was a lawsuit. Her marriage to a fellow resident dissolved. She wasn’t asked to leave the residency program, but she felt compelled to punish herself and leave on her own.

That way, she never had to face her classmates, or patients, or the brilliant, intimidating Dr. Swenson, again.  Anick Swenson had been the attending physician on call the day of the crisis. All the medical students both revered and feared her.

“She was harder on the women…She would tell them stories of her own days in medical school and how when she came along the men knit their arms together to keep her out. They made a human barricade against her, they kicked at her when she climbed over them, and now all the women were just walking through, no understanding or appreciation for the work that had been done for them.”

Marina never told her mother why she abruptly decided not to become a doctor. She never told her lover, Mr. Fox, who is president of the pharmaceutical company she works for. She never told her close friend and colleague, Anders Eckman, who has just died of fever in the Amazon jungle.

Now, Anders’ wife has begged Marina to find out what she can about Anders’ death and retrieve his body. And Mr. Fox has asked her to check on the progress of a top secret research project being conducted by none other than Dr. Swenson, who makes it a practice of remaining incommunicado.

Marina doesn’t want to set foot in the jungle, and she doesn’t want to see Dr. Swenson. But she goes, because she cares deeply for Anders, who has left behind a wife and three young boys.

Here is the particular nugget of the story I keep coming back to:

“The great, lumbering guilt that slept inside of her at every moment of her life had shifted, stretched.”

Marina has suffered and continues to suffer deeply, even though her suffering is hidden away. She knows what she’s lost. She was a bright, capable young woman who wanted to devote herself to caring for women and helping them bring new life into the world. Yet in the space of a few hours she walked away from it all. She’d spent the greater part of her adult life only half alive, using a fraction of her potential. She seems to be very much alone; she holds the other people in her life at a distance, and she settles for a less than fulfilling relationship with Mr. Fox.

Marina has never gotten over her past. She locked it away in a dark corner of her mind and got on with life. Facing her demons is the psychological story within the story of Marina’s journey into the Amazon jungle. It turns a plot driven novel into something more urgent and real for the reader, even if the reader is only half aware of it.

This fusing of outward adventure and inner journey is what ultimately made it impossible not to follow Marina into the darkness. I revisited some of my own life issues as Marina revisited hers.

I admire Marina, but not all of the decisions she makes as her story unfolds, and that’s as it should be when reading about a character who is real, alive.

The essential story in this book, for me, is the reclaiming of a life. By the end of the story, I was different.  Not in a dramatic way, but nonetheless something had shifted.  A truly great book such as this one stays with me and continues to wield its power. And I can’t begin to measure the impact of many books read over a lifetime.

Some people say the book is in danger of disappearing. But in a recent essay, Timothy Egan writes that people are actually reading more and buying more books. I think we will always hunger for the power of story and the collective wisdom of the great writers and thinkers.

 

 

Blue mushrooms and yellow tree bark – what would you do? State of Wonder

I write with unfortunate news of Dr. Eckman, who died of a fever two nights ago. Given our location, this rain, the petty bureaucracies of government (both this one and your own), and the time sensitive nature of our project, we chose to bury him here in a manner in keeping with his Christian tradition….Despite any setbacks, we persevere.

The letter writer, Dr. Annick Swenson, is a fearless force of nature.

Marina Singh, the protagonist, is not.

Watching the relationship between these two women unfold in Ann Patchett’s State of Wonder was one reason I couldn’t stop turning the pages.

If you’ve read the book or are in the process of reading it, I’d like to know what you think about these two women. Do you like them? Do they change as the story unfolds? For better or for worse?

What do you think about their relationship with men? I found myself comparing Dr. Swenson’s relationship with Dr. Rapp to Marina’s relationship with the men in her life, especially her father and Mr. Fox.

Any thoughts about Marina’s nightmares, induced by taking a drug to prevent malaria?

The conventional roles of mother, father, friend, lover, husband, wife, and child seem to become less strictly defined and more fluid as the story unfolds. What do you think about that?  Consider the Lakashi tribe, too.

What exactly was Easter all about? What do you think of the way Marina, Dr. Swenson, and other characters treated him?

Many of Patchett’s characters must make difficult moral choices. Do you agree with the choices they made? Do any surprise or upset you?

We encounter addicting yellow tree bark, blue mushrooms with hidden power, and lavender moths unlike any other species of moth. What do you make of how the characters responded to these discoveries? What would you do?

Please tell me what you think about any of this in the comments below. There are bound to be disagreements – the more discussion, the better!

What Albert Einstein Said to a Girl
It occurred to me that the books I’ve featured on this blog have so far been about strong, independent women departing from traditional roles.  When I was checking my email subscriptions before I wrote this post, I found this:
Albert Einstein once had a correspondence with a young girl who wanted to be a scientist. She regretted the fact that she was a girl but said she’d grown resigned to it. She hoped Einstein wouldn’t think less of her for being female.
You can read his reply in Brain Pickings, a website about creativity that I like, in a post about women in science.

The letter is from Dear Professor Einstein: Albert Einstein’s Letters To and From Children.

The quote at the beginning of this post is from State of Wonder by Ann Patchett, HarperCollins Books, 2011

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