Body and mind

What are the pros and cons of getting genetic testing if your parent has Huntington’s Disease? What about dating and relationships?

A resident in the pediatric intensive care unit wants patient education information about shaken baby syndrome and traumatic brain injury.

A mother whose child has just been diagnosed with epilepsy wants to know if a special diet will help.

At teaching rounds, medical students on their first patient rotations are led through the process of making a diagnosis. “He has weakness in his arm and leg,” says the neurologist. “If his symptoms are on the right side, where is the lesion in the brain?”

These are some of the situations I’ve seen as a medical librarian. Sometimes we forget how precious and fragile are our bodies and minds. We can walk, run, speak, love, laugh, cry, sing, read, write, think, create, make plans, give comfort, enjoy a meal with family and friends. Until one day something changes.

I know from personal experience a mind can become irrevocably altered and an identity can vanish seemingly overnight. Which is probably why I am so fascinated by medicine, especially medicine having to do with the brain and behavior.

Here are some of my favorite books (fiction and nonfiction) about illness, recovery, medicine, the search for cures and miracles, and the people caught up in it all: medical professionals, researchers, patients and families. If you follow my blog, a few of the books will be familiar.

FICTION

I Know This Much Is True book cover

I Know This Much is True, by Wally Lamb

“On the afternoon of October 12, 1990, my twin brother Thomas entered the Three Rivers Connecticut Public Library, retreated to one of the rear study carrels, and prayed to God the sacrifice he was about to commit would be deemed acceptable.”

This is the best evocation of schizophrenia I’ve ever read. Wally Lamb is my hero.

By the way, Wally’s newest novel, We Are Water, was just published this month. It is on my nightstand in my little stack of books to read.

Saturday book cover

Saturday, by Ian McEwan

A neurosurgeon. Huntington’s Disease. A home invasion. A poem.

(The poem nestled deep within the plot sparks a crucial turning point. It also happens to be one of my lifelong favorites.)

State of Wonder book cover

State of Wonder, by Ann Patchett

“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.”

“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.”

We Are All Completely Beside Ourselves book cover

We Are All Completely Beside Ourselves, by Karen Joy Fowler

“…I’d made a careful decision to never ever tell anyone about my sister, Fern. Back in those college days I never spoke of her and seldom thought of her…..Though I was only five when she disappeared from my life, I do remember her. I remember her sharply – her smell and touch, scattered images of her face, her ears, her chin, her eyes. Her arms, her feet, her fingers.”

***************************

MEMOIR

God's Hotel book cover

God’s Hotel: A Doctor, a Hospital, and a Pilgrimage to the Heart of Medicine, by Victoria Sweet

Inspired by Hildegard of Bingen (12th century German mystic and medical practitioner), as well as her own instinct for compassionate, attentive care, Dr. Sweet practices “slow medicine” at the last almshouse in the U.S. as it transitions to the modern age. We should all have a physician like Dr. Sweet.

My Beautiful Genome book cover

My Beautiful Genome, by Lone Frank

“…we are each of us temporary depositories of information that has an almost eternal life, and which is passed on and on and on…”

“I am what I do with the beautiful information that has flowed through millions of years through billions of organisms and has, now, finally been entrusted to me.”

They have started to harvest rye, so I am sitting here alone, writing

The tiny farm near Falkenberg, Sweden where the Johansson family lived at the turn of the century. Here my grandmother, Hulda, helped her mother and father with baking, cleaning fishing gear, etc.

The tiny farm near Falkenberg, Sweden where the Johansson family lived at the turn of the century before they moved to a larger one. Here my grandmother, Hulda, helped her mother and father with baking, cleaning fishing gear, and other chores.

 

The Forest House

I just finished reading The Forest House, Joelle Fraser’s memoir about divorce and living alone in a remote village in northern California’s Diamond Mountains.

Like me, Joelle is of Swedish descent. She writes of her great-grandmother, Emma, who had to leave her six daughters with foster families and neighbors in Sweden when she emigrated to America in 1919 after a family tragedy. Emma saved the money to send for her children and was eventually reunited with five of them.

Joelle has a hard time after her divorce, especially living only part-time with her young son, and scraping by on a tiny income. She wonders what her great-grandmother might teach her about weathering nearly unbearable troubles. Joelle wants to tap in to “the knowledge of our ancestors that still exists within us…It’s the instinctive way we respond to a sudden change in fortune, or to the many variations of loss.”

She quotes Wendell Berry, who writes of “the profound and mysterious knowledge that is inherited, handed down in memories and names and gestures and feelings, and in tones and inflections of voice.”

This reminds me of Lone Frank’s book, My Beautiful Genome, and her fascination with the genetic “coding” we inherit from our ancestors.

We’re getting ready for an extended family reunion, so I’ve been thinking about ancestry as I look forward to seeing several generations of my husband’s family. To celebrate and explore their Irish heritage, we’re going to be reading Colum McCann’s new novel, Transatlantic. More about that in my next post.

Family letters from Sweden

In the meantime, here are excerpts from letters sent to my grandmother from Sweden. Recently, my cousin and I had a few of them translated.

Dikesgård

July 31, 1938

Dear Hulda and Family,

I would like to tell you all that Dad is gone from us forever. I have a heavy heart and am tired…his heart was in poor shape, so he died of a heart attack. He went so fast. We should all be prepared every hour that the Lord may wish to call us from here.

Dad was so good; we hope he is resting in the arms of the Savior. He went with me both to the Church and partook of the Communion. We hope that the good Lord’s mercy is so encompassing that he will accept all of us as his children.

We have our health. They have started to harvest rye so I am sitting here alone, writing….

Warm greetings from all of us to all of you from,

Your Mom

***

Skrea, February 19, 1969

Dear Sister Hulda,

Oskar is so well now that he could leave [the hospital] and he is riding around on his bicycle during the day. He is well off since he has a pension of more than 500 Crowns a month and has electric light and heating; the temperature is always 20 degrees C inside since heating is automatic…..

Annie is quick as she has always been. I…remember when she was going to school in Bölse and had a blue velvet cap which I thought was so beautiful. Hulda, maybe you also had that velvet hat…..

The kindest regards,

Jennie

***

Stockholm, November 5, 1971

Dear Sister Hulda,

We sisters are wondering how you are doing following Ivar’s death…..

Considering the circumstances, Oskar is doing pretty well; you may know that his left leg was amputated last spring; he had a gangrene in it, so that was the only solution. He walks, takes strolls with the help of two goats…

You will probably celebrate Christmas at one of your children’s. We shall be with Inez, Bengt, and their four children on Christmas Eve. Gunilla, Lars and little Karin live in Luleå, but they are coming here during the Christmas holiday…

Regards,

Signa and Carl

***

Dikesgård, December 1

Thank you for the letter and the Christmas greetings. How are you there so far away? Everyone asks Oskar if you are well and hale.

Here in Sweden it is raining only and the wind is blowing, but perhaps by Christmas it will be crisper….

I have my one leg, so I got an artificial one so I can walk a bit and I can drive a small car. I can no longer bike, it is hard, one has to do what one can. Soon it will be Christmas again; time goes by so quickly. I go home and sit in [illegible] to pass the time. I can read whatever I can put my hands on and pass the time.

With kind greetings and wishing you merry Christmas.

Oskar

MEMOIRS WITH ANCESTRY MOTIFS

The Forest House, by Joelle Fraser

My Beautiful Genome, by Lone Frank

Ava’s Man, by Rick Bragg

The Shadow Man: A Daughter’s Search for Her Father, by Mary Gordon

If you can add to this list, please do so in the comments. And if you’ve read one of these books, let us know what you think about it.

Genetic kinship: Who are we and where do we come from?

In My Beautiful Genome, Lone Frank probes her past by having her DNA analyzed for genetic kinship.

State-of-the-art genetic testing can trace ancestry ten or eleven generations back, by looking at a man’s Y-chromosome DNA (which he inherits unchanged from his father) or the mitochondrial-DNA of a man or a women (which they inherit unchanged from their mother.)

Many people interested in genealogy are now supplementing their research with DNA testing of this kind.

Piazza in Carini, Sicily

Piazza in my father’s hometown, Carini, Sicily

As I read about Lone tracing her ancestry, I thought about trips to my father’s birthplace in Sicily I’ve taken with my family. My father was a baby when he crossed the Atlantic Ocean with my grandmother to Ellis Island. I heard the story many times growing up. My grandparents kept in touch with their relatives and returned to Sicily several times to visit.

Because they did, I’ve been able to travel to Carini to meet my father’s family, and my sons have had the opportunity to get to know their Sicilian cousins. That connection with the “old country” is continuing into the next generation, and I hope my children will keep it going with their children.

On our first trip, when we were exploring the cobblestone streets of Carini, we stopped in a bakery. There, we met a man who had my last name (my maiden name.) My family’s surname name is common in Carini.

That day our cousins took us to a nearby castle that had been built around 1075. In the evening we gathered for an elaborate, home-cooked meal at my father’s cousin’s villa in the old section of Carini. Like most Sicilian homes, it is walled off and gated. We sat at several picnic tables end-to-end next to a large, well-tended garden and talked late into the night.

I was steeped in antiquity but surrounded by modernity. Vespas and other traffic passed by outside the garden walls.  I felt a sense of completion. Here were my roots, or half of them, anyway. I looked at the faces of my family and thought about the fact that Sicily has been conquered repeatedly, by the Greeks, Romans, Byzantines, Muslims, Normans, Spanish, and probably others. We have the blood of many races, and who knows what parts of the world our earliest ancestors came from.

I think people are looking for this sense of identity when they do genealogical research and probe their DNA for ancestry. We are, each of us, unique. Yet when it comes down to it, we all come from the same human family.

Have you had your DNA analyzed for ancestry? Are you considering it? If so and you’d like to share your thoughts and experiences, please do in the comments below.

What genetic tests tell us about our health

Chromosome 4

Genome Management Information System, Oak Ridge National Laboratory

I am what I do with the beautiful information that has flowed through millions of years through billions of organisms and has, now, finally been entrusted to me.    Lone Frank

Genetic tests for consumers now cost as little as $99.

Send in a sample of your DNA (usually a swab of saliva) and you’ll be notified of the results by mail, email, or online. (In some states, such as New York, genetic tests must be requested by a physician.)

Science journalist Lone Frank purchased a genetic test kit and sent in her sample of saliva. In My Beautiful Genome, she describes going online and finding out her risk for Alzheimer’s, glaucoma, asthma, gallstones, arteriosclerosis, and other conditions.

Breast cancer is Lone’s number one concern; her mother and maternal grandmother died relatively young from it. At first, she’s relieved, because the test says she has a 7.7 percent risk for breast cancer, lower than a woman’s average risk of 12%.

But when Lone interviews the founder of the genetic testing company, he advises her to get a BRCA gene test because of her family history. Mutations in these genes can mean up to an 80% risk for breast cancer.

When Lone tries to get a BRCA test, she’s turned down, because the testers want evidence of breast cancer in her family going back one more generation, and Lone doesn’t have that information. Nonetheless, she manages to convince them to give her the test.

I’ll permit myself one spoiler and tell you Lone doesn’t have the BRCA genes. She’s tremendously relieved, of course – between that and her lower-than-average 7.7 % risk, maybe the genetic roll-of-the-dice is in her favor.

Not so fast.

The genetic counselor tells Lone that, because both her mother and grandmother died of breast cancer, there could be another risk factor at play – a genetic anomaly for breast cancer that hasn’t been discovered yet.

Let’s say another genetic risk factor for breast cancer comes to light and Lone has it. That would mean her risk rating would increase from 7.7% to something much higher.

The risk ratings from consumer genetic testing are based on limited information, because there is so much we don’t know yet about the human genome and disease. As more of the human genome is decoded, people’s risk ratings change.

The fact of the matter is, every human has over 20,000 genes, and consumer genetic tests examine only a handful of them.

So, just how useful are these tests?

I asked my general practitioner, an excellent physician, what he thinks of direct-to-consumer genetic tests. He’s not enthusiastic.  They yield information that’s incomplete, possibly inaccurate, and worrying. He believes specific genetic tests for specific conditions – the kind of test you’d obtain after a discussion with your health care provider – can be useful, but only if you’re prepared to act on the information. A woman may get a BRCA test, for example, with the intention of having a double mastectomy if the results are not in her favor.

I’m not going to be asking him to request a genetic profile for me anytime soon. When I first began reading My Beautiful Genome, I considered it, but I’m not convinced I’ll learn anything useful, I’ll wonder about accuracy and, depending on the results, I’ll probably worry.

There are lots of other drawbacks, too, which Lone discusses in her book. But she gives equal time to the potential benefits of genetic testing, and writes about what is being done on the cutting edge. Some of what she has to say sounds like science fiction, but it’s really happening.

Lone Frank wants very much to know her own genome; I’ve decided to postpone exploring my own DNA for health reasons until more is known. If and when I do, I’d want to discuss the results with a genetic counselor or other qualified expert.

Still, I’m excited about the prospect of someday knowing something about my own genetic code. I hope that day isn’t too far away.

And if I ever have the opportunity to participate in a research study about the genetics of something I care about – schizophrenia, for example – I’d volunteer in a heartbeat.

Would you choose to explore your DNA with a genetic test? Have you already been tested? What do you think of consumer genetic tests? Please share your thoughts in the comments below.

Would I have my DNA analyzed for ancestry? That’s another story. In my next and last post about My Beautiful Genome, I’ll write about what Lone learned about her genetic roots.

Do genes shape our mental health?

Chromosome 2

Chromosome 2 (click twice 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)

“I want to know what it feels like to have a close encounter with my DNA, this invisible, digital self that lies curled up like a fetus in every single cell of my body.”  – Lone Frank

When asked by the researcher if she has first-degree relatives with mental health problems, Lone Frank says yes.

Asked which ones, Lone says: all of them.

Depression, multiple suicides, bipolar disorder, alcoholism. With mordant humor, Lone Frank describes her family history. She’s forthcoming about her own three episodes of depression, then lies to the researcher about how many drinks she has each week. Fourteen glasses of red wine, for the health benefits. (But it’s really closer to twenty drinks or more. At least, that’s what she tells the reader.)

Lone, a Danish science journalist with a PH.D. in neurobiology, volunteered to take part in a major research project to study the connection between personality, an inclination toward depression, and specific genes.

In My Beautiful Genome: Exploring My Genetic Future One Quirk at a Time, she takes us along as she undergoes genetic testing, completes questionnaires and personality tests, and talks with multiple experts who interpret the results. Along the way she grapples with many questions.

Does she, indeed, have genes that predispose her to depression?

How does the environment factor in, as well as her upbringing and her own free will to pull herself out of depression and make cognitive and lifestyle changes to prevent it?

Does she unwittingly contribute to her own dark moods and temperament by building her own, unique environment – under the influence of her genes – that is conducive to depression?

On the other hand, does she possess certain genes or genetic variations that give rise to traits that help her excel in certain areas?

Do some genetic variations mitigate the effects of others?

Are there “good” and “bad,” “healthy” and “unhealthy” genetic variations, or simply variations that lead to different outcomes depending on one’s circumstances?

I won’t give away what Lone discovers, but she finds out a lot and, in the end, concludes the information is enormously helpful.

Let me stress that the average lay person could not mine their own genome for this information the way Lone did. Because she’s a journalist with a doctorate in neurobiology, she had access to sophisticated genetic tests and, more importantly, to experts who could interpret the results and how they might affect her personality and behavior.

Nonetheless, mining Lone’s genome with her is a glimpse into what may be possible for all of us, eventually, if we want it.

How much would you want to know about your genes and how they might shape your personality and behavior? Please share your thoughts in the comments.

Coming up, what Lone’s DNA reveals about her future health.

Quote from My Beautiful Genome: Exploring My Genetic Future One Gene at a Time, by Lone Frank, Oneworld Publications, Oxford, 2011.

Meeting the dark matter of mental illness

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.

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