Review: Inside the O’Briens – Lisa Genova

By Lakshini Mendis

This review first appeared in the Scientista Foundation blog

In her new novel, Inside the O’Briens, the New York Times best-selling author of Still Alice, Lisa Genova, presents a moving portrayal about a family struggling with Huntington’s disease (HD).
HD is caused by a faulty gene that leads to the progressive breakdown of brain cells, which results in its hallmark symptom, chorea (uncontrollable dance-like movements). It is known as a ‘family disease’ because every child of a parent with HD has a 50/50 chance of carrying the faulty gene. About one in every 10,000 people has HD, but one in every 1,000 is touched by the disorder, whether they are at-risk of inheriting it, a caregiver, family member or friend. Currently there are about 900 families  affected in Auckland.

The story centres on the O’Briens – Joe O’Brien, his wife, Rosie, and their four grown children, JJ, Patrick, Meghan, and Katie – who live in Charlestown, MA. The O’Briens are just another normal family, sibling rivalries and all, which make them very relatable. The difference is that Joe has HD. We follow Joe from his earliest symptoms, to his diagnosis, and get an insight into what living with HD is like. We see how it affects his job in the Boston PD, and the ramifications (both positive and negative) his diagnosis has on his family.
Given that the faulty gene causing HD was found in 1993, ‘at-risk’ individuals can now choose to find out their gene status by taking a genetic test. We see the O’Brien kids, especially Katie, the baby of the family, grappling with this complex choice. It is not a decision that many of us have to consider in our early 20s, but Genova raises and explores some poignant considerations. Is the constant anxiety of not knowing better than being confirmed gene-positive? What happens if you are gene-positive? Do you choose to marry and start a family, given the risk of passing on the gene to your own kids?
Genova, who holds a PhD in Neuroscience from Harvard, effortlessly educates her audience about the science and genetics behind HD, without the complexities of a clinical textbook. It is one of the reasons I love this book.
The other reason I found this book a riveting read is testament to Genova’s storytelling capabilities. Genova really captures the human essence of being a part of an HD family, and gives us a window into what this feels like. The O’Briens were so compelling… so real! I found myself worrying with the O’Briens, crying with the O’Briens, feeling their pain and going on the same journey with them. I’m sure their story will resonate with many HD families across the world. However, because at its core, this story is about family, resilience, and love, it is relevant to all of us. I highly recommend it for your winter reading!
“Every breath is a risk. Love is why we breathe.”
— Katie O’Brien, Inside the O’Briens

May is Huntington’s disease awareness month… educate yourself here:
Huntington’s Disease Association (Auckland) Inc:
Provides support for those living with HD in Auckland, by educating the community, providing the right support services, and furthering research to manage and cure HD
HDYO: the Huntington’s disease Youth Organization site has tons of information about the disease and resources to help those with juvenile HD or with a parent who has HD (HDYO NZ is currently being set-up and could use your support!)
HDBuzz: Co-founded by Dr Ed Wild and Dr Jeff Carroll, this site reports the latest Huntington’s disease research news, without the jargon

About the Author

LakshiniScientista’s co-Editor-in-Chief, Lakshini Mendis, is doing a PhD focused on how the human brain changes in Alzheimer’s disease at the Centre for Brain Research in Auckland. She is passionate about good science communication and changing the stereotype of women in STEM. She also writes for HDBuzz. When she’s not working, you can usually find Lakshini curled up with a good book, spending time with family and friends, or exploring somewhere new. Find her musings on Twitter here!

Investing in a Digital Brain Bank

As many readers of this blog will know, the Centre for Brain Research has a world-renowned Human Brain Bank. This incredibly valuable scientific resource provides scientists with the opportunity to discover vital clues about brain diseases. Tissue from the New Zealand brain bank is sought after by scientists worldwide, sparking collaboration around the globe. Advances in modern science often necessitate collaboration between researchers with unique resources and scientific approaches.

brain bank Such collaboration has recently been made even easier with the emergence of a human brain bank in San Diego that digitizes all their specimens. The full article about this Digital Brain Library is available here – well worth a read. Each brain that is donated to the library goes through the usual preservation procedure and is then sliced over several days into over 2,000 slices that are only microns thick. Once stained, each slice is photographed at an incredibly high resolution and then digitized. One important feature of the digitization step is that it creates an online library of all the brains reassembled into their complete structures. This allows investigation of whole-brain connectivity that is not possible with single slice specimens.

However, what I think is even more exciting, is the fact that the digital library is open access. Anybody, anywhere in the world is able to view and learn from these brains. The powerful potential of crowd-sourcing to utilize the ideas and motivations of the general public should not be underestimated. Indeed, the article points out that Google Earth has enabled amateurs to make some remarkable discoveries, even ones that scientists missed. Could this Digital Brain Library be the Google Earth equivalent to reveal some of the mysteries of neurological diseases?

The idea of sharing such knowledge and utilizing the collective ‘brain power’ of the population has exciting possibilities. After all, “with enough curious eyes on a big enough dataset, you never know what someone will find.”

An eye for fashion

blueblackdress

Image source: swiked.tumblr.com/

This is the most famous dress on the internet today. More famous even than any hundred-thousand dollar dress worn to the Oscars last week.

Do you see it as ‘blue and black’ or ‘white and gold’? Whatever you see, you probably can’t imagine how anyone could see it differently.

This dress is a reminder that our perception of the world around us is not necessarily a perfect mirror of reality. Most of us have three groups of colour-sensitive cells that can detect ‘red’, ‘green’, and ‘blue’ light and convert this information into signals that our brains can interpret as colour. However, the colour that we perceive also depends on other factors such as the brightness of the image and the contrast with its surroundings. Together with innate differences in colour perception, this has divided us into two camps: those who see the dress as blue/black and those who see it as white/gold. Personally, I’ve tried looking at the dress in a variety of different lighting conditions, and I just can’t see the white and gold version. (FYI, apparently the dress is actually blue).

Do we all see the same colours anyway? Maybe we call them the same name, but is my ‘blue’ the same as your ‘blue’? Sure, you learnt what ‘blue’ was as a child, but if you could look through someone else’s eyes, perhaps you would see a sky of gold. Maybe that’s difficult to imagine, but then again, so is a white and gold dress…

Does the brain benefit from mindful meditation?

It’s the beginning of February, and hopefully those of us who set goals for 2015 are on track. One of the things on my list for this year is to try mindful meditation. In a typical modern-day lifestyle it doesn’t seem surprising that taking some time each day to relax and clear the mind can show immediate improvements in focus and reduce stress levels. But are there any neurological benefits which can be longer lasting?

Meditating Buddha By Wikipedia Loves Art participant "Opal_Art_Seekers_4" [CC BY 2.5 (http://creativecommons.org/licenses/by/2.5)], via Wikimedia Commons

Meditating Buddha By Wikipedia Loves Art participant “Opal_Art_Seekers_4” [CC BY 2.5 (http://creativecommons.org/licenses/by/2.5)%5D, via Wikimedia Commons

It’s worth acknowledging that there are several forms of meditation. I’ve been reading about mindful meditation, or focused attention. The goal of this practice is to keep the mind in the present moment, usually focusing on something simple like breathing. Sustaining a single thought without straying can certainly be hard work! It doesn’t, therefore, seem too surprising that consistent practice might be ‘training the brain.’

Several studies have shown that practicing mindful meditation is correlated with physical changes within the brain, especially changes to grey matter volume. Grey matter refers to neuron cell bodies and indicates neuron density. People who meditate have increased neuron density within the hippocampus (a structure integral to memory), brain stem (involved in regulating breathing and heart rate), and the frontal lobe (the location of several cognitive functions e.g. self-control), as well as decreased density in the amygdala (involved in anxiety and stress responses). Incredibly even just 8 weeks of practice appears to cause significant anatomical changes. These changes in form have been demonstrated using magnetic resonance imaging (MRI) and supported by behavioural data showing improved performance in related functions. There have even been suggestions that maintaining grey matter volume through mindful meditation has neuroprotective effects, helping to reduce age-related decline in cognitive function.

Studies have also demonstrated general improvements in mood and decreased stress levels from meditation in patients (e.g. multiple sclerosis and cancer) and healthy populations, possibly due to alterations in neural metabolites. Although significant time commitments were required in some studies (up to 5 hours a day), it also seems that 10 – 20 minutes a day can produce benefits.

So the evidence so far for neurological benefits seems fairly compelling. However it is important to keep in mind that in this field of research it is difficult to have placebo controlled and blinded studies, so we do have to interpret the research accordingly. In addition, the findings of structural differences in the brain are encouraging, but unfortunately correlation does not necessarily imply causation. Nevertheless, as there seems to be no harm associated with the practice and suggestions of benefit, potentially even long term, I’m off to find a quiet space for 20 minutes of mindful meditation!

The Reality of Reaction Times

Photo credit: Richard Masoner

Photo credit: Richard Masoner

With the summer road toll climbing, we’re hearing constant reminders for Kiwi drivers to watch their speed and following distances.

The New Zealand Road Code recommends a 2 second following distance during normal conditions. Next time you’re on the motorway, check out how many drivers actually follow this recommendation. We’ve all seen tail-gaters travelling at 100km/hr with only 5 metres of stopping distance between the car in front.

Perhaps what gives some drivers such little disregard for their own and others safety is an over-estimation of the capabilities of their own brain. If the driver in the car ahead can brake suddenly, then why can’t they?

The time it takes you to respond to an emergency road incident is based on many external factors, including the weather conditions, and the responsiveness of your vehicle. The recent example of the 100+ car pile up in Michigan during icy weather conditions is an unfortunate example. There are also biological factors that influence your reaction time. You attentiveness, age, and neurological disorders can all slow your ability to react to a hazardous situation.

But no matter how ‘lightning fast’ you think your reflexes are, there’s no beating basic brain biology. The light rays that hit your eyes are coded into electrical signals that travel along the length of your neurons, diffusing across the gaps between neurons, until they reach the visual areas of the brain. In fact, it can take around 80 milliseconds before a visual stimulus in front of you reaches your conscious perception – about the blink of an eye. This doesn’t sound like much time, but if you are tail-gating someone at 100km/hr, then at least 2.2 metres of following distance are wasted before reality catches up with you.

For those drivers who disregard the recommended following distances, don’t forget that your reality of your brain biology!

If you have some time on your hands, check out how fast your reaction times are.

 

The brain under pressure

Last week we read about what happens to our brain when we hold our breath and free dive. What about those of us who want less physically demanding diving? Do we experience similar physiological effects while SCUBA diving?

SCUBA diver

By Soljaguar (Own work) [CC-BY-SA-3.0 (http://creativecommons.org/licenses/by-sa/3.0/)%5D, via Wikimedia Commons

Effectively, yes. Except SCUBA diving also introduces effects on the body from breathing air under pressure for an extended time period. For a recreational diver, nitrogen is our worst enemy. While we’re enjoying the eels, nitrogen is silently dissolving itself in our blood stream. Unlike oxygen, our body does not metabolize nitrogen, so it builds up in our tissue like carbon dioxide in a soft drink. If we stay down too long and ascend too quickly, the dissolved nitrogen will turn into bubbles like when you crack open that bottle of soft drink.

These are not the sort of entertaining bubbles you enjoyed as a kid – bubbles in tissue and blood are dangerous as they disrupt cells, causing a wide variety of symptoms known as decompression sickness. The smaller bubbles are less disruptive, most likely only causing limb and joint pain. The nickname of ‘the bends’ comes from the bent and twisted posture of suffers trying to relieve the pain in their limbs.

However if we were unlucky enough to get larger or a greater number of bubbles, we’d most likely start experiencing neurological symptoms. These can include headaches, stroke, paralysis, seizures, vestibular problems, inappropriate behaviour, and visual disturbances. The most common neurological complications of decompression sickness are those of numbness and paralysis of the legs, caused by a lesion around the 6th to 8th thoracic segment in the spinal cord. This is believed to be due to the increased susceptibility of this region to ischemia. However bubbles can also damage the nervous system by causing axon degeneration or even demyelination. Certain neurological conditions may be made worse, such as cerebral palsy, ADHD, and epilepsy.

Once you’ve had decompression sickness, you seem to be at an increased risk of getting it again, although the exact reason for this is unknown. There is unfortunately little scientific consensus as to the long-term effects of decompression sickness, mostly due to the difficulty of finding an adequate control group for reliable research. One suggested effect of repeated decompression sickness is osteonecrosis, or bone death, resulting from bubbles trapped in blood vessels that supply bone. Disruption of blood vessels may also cause an increased risk of associated neurological incidents such as stroke. Thankfully, people may recover from neurological damage through repeated treatments with oxygen in a high-pressure chamber.

Although unfortunately, you can have too much of a good thing. Prolonged breathing of too much oxygen at increased partial pressures has it’s own problems, namely oxygen toxicity. Central nervous system oxygen toxicity can cause disorientation, dizziness and nausea followed by seizures, resulting from oxidative damage to cell membranes. This is really only a risk for more advanced technical divers, who use various gas mixtures with enriched oxygen or who dive to depths greater than 60m with normal air.

This definitely isn’t meant to scare people off SCUBA diving! Recreational divers following the basics of their training will be well within safe limits. But be aware of the effects the increased pressure is having on your body.

Free diving: a brain sport

DivingSealDid you find yourself holding your breath in anticipation whilst watching Kiwi free diver William Trubridge attempt to break his own world record

If you are hoping to increase your breath-holding record, then you’re more likely to achieve that underwater than you are on land. Humans and other mammals have evolved some important ‘dive reflexes‘ that allow us to conserve enough oxygen to survive for short periods underwater. Jump into a cold pool, and you will reflexively stop breathing, your heart rate slows down, and blood is redirected to your organs at the expense of your limbs. This is thanks to control centres in the brain stem that detect a decrease in oxygen and the sensation of water on the face. While our dive reflexes cannot compete with those of a seal, even dunking your face in a bowl of cold water is enough to experience a mild form of this reflex. 

Your brain is your most expensive organ, requiring up to 20% of your total oxygen consumption. William managed 4 minutes and 9 seconds underwater, by encouraging a relaxed mental state to decrease the brain’s oxygen requirements. 

But free diving to 100 metres provides the brain with more bodily challenges than oxygen deprivation alone. As William felt the pressure of the world on his shoulders as thousands of New Zealanders watched his record attempt, so did he feel the pressure of the water on his body. This change in pressure can cause ‘barotraumas’, such a rupturing of the inner ear and sinuses. At extreme depths, the pressure is so high that the concentration of gases in your body (such as nitrogen) are much higher than they normally are. This can lead ‘narcosis‘ that can impair your ability to think and coordinate your muscles – a similar feeling to alcohol intoxication. The jury is still out, but there’s even some evidence that repeated free dives can lead to early signs of brain damage.

But I think perhaps most remarkable of all, is the brain’s ability to overcome panic and fear as it descends into the darkness. Under that kind of pressure, it really is sink or swim (or sink first, then swim?) William didn’t make a new record, this time, but his brain certainly survived an epic challenge.