Cracking the code

If you’re the parents of 6-year-old Massimo who has been diagnosed with a rare brain disorder, so rare it has no name. And all you’re told is that the myelin, the insulation that surrounds the nerves of the brain is missing or breaking down. What do you do?

Massimo's developmental milestones stopped and he was regressing. He could not stand or speak. Stephen and his wife Sally were losing their son; and his prognosis was dire.  

This is a story of a father's search to find a diagnosis, and ultimately a cure, for his son's mystery disease. The family teamed with geneticist Ryan Taft to map their genome in an attempt to discover the cause of their son's illness and in the process developed a diagnostic tool that will revolutionise diagnoses and treatments of diseases as complex and rare as Massimo's leukodystrophy.

Previously, trying to find a specific gene mutation that might be responsible for a disease was a million times harder than finding a needle in a haystack. Stephen, Massimo's dad suggested that Ryan align the genomes, or DNA blueprints, of himself, his wife Sally as well as Massimo, to find any unique variations and thereby create a smaller haystack was previously untried. Stephen convinced Massimo's neurologist, Dr Rick Leventer at Melbourne's RCH, that it was just a case of technology, statistics, data, and money, but that it could be done.

Once Taft was able to locate and isolate the specific genetic mutation of Massimo's DARS gene, the hunt was on to find other children with the same genetic mutation so that the diagnoses could be confirmed. With the help of Dr Adeline Vanderver at the Children's National Hospital in Washington DC, along with Prof. Marjo van der Knaap and Dr Nicole Wolf in Amsterdam, they were able to locate several other children with DARS mutations and have now moved on to the next phase of Mission Massimo: finding a cure.

Cracking the code

Cracking the code by

Sally & Stephen Damiani, Leah Kaminsky

This is a beautifully written story of a father's search to find a diagnosis, and ultimately a cure, for his son's (Massimo) mystery disease. Massimo succumbed to a mystery disease. In the space of a few weeks, the toddler lost the ability to eat and crawl. The prognosis was bleak and the cause mystifying.

It’s the story of how a man teamed with geneticist to map his family's genome in an attempt to discover the cause of his son's illness and in the process developed a diagnostic tool that will revolutionize diagnoses and treatments of diseases as complex and rare as his son’s leukodystrophy. This is also a story that is an inspiration that has set the world of genetic medicine and research abuzz with the possibilities for the future.

But first, in the way of a brief background; the Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. This project began in 1990 and was completed in 2003, 2 years ahead of its original schedule. The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person. As researchers learn more about the functions of genes and proteins, this knowledge is envisioned to have a major impact in the fields of medicine, biotechnology, and the life sciences.

Even though this isn’t a story about the use of a reference genome (as a representative example of a species' set of genes) it is very much about locating and isolating the specific genetic mutation of Massimo's DARS (aspartyl-tRNA synthetase) gene.

Cracking the Code screened on Australian Story Stephen Damiani and his extraordinary ordinary family in 2013. Previously, trying to find a specific gene mutation that might be responsible for a disease was a million times harder than finding a needle in a haystack. The Damiani family teamed with geneticist Ryan Taft to map their family's genome in an attempt to discover the cause of their son's illness. Stephen (dad) suggested that Ryan align the genomes of himself, his wife Sally as well as Massimo, to find unique variations and thereby create a smaller haystack was previously untried. Stephen convinced Massimo's neurologist, Dr Rick Leventer at Royal Children's Hospital Melbourne that it was just a case of technology, statistics, data, and money, but that it could be done.

Once Taft was able to locate and isolate the specific genetic mutation of Massimo's DARS gene, the hunt was on to find other children with the same genetic mutation so that the diagnoses could be confirmed. With the help of Dr Adeline Vanderver at the Children's National Hospital in Washington DC, along with Prof. Marjo van der Knaap and Dr Nicole Wolf in Amsterdam, they were able to locate several other children with the same mutations and have now moved on to the next phase of Mission Massimo: finding a cure.

The Monty Hall problem

The following simple Maths problem has proven to be subtle, controversial, paradoxical and idiosyncratic. All this aside, the result is nonetheless factual and makes good television.

So you’re on a game show where you’ve been shown 3 doors. Behind one of the doors is a prize. Behind the other 2 are goats. You get to choose a door. Let’s say you choose door 1. The host then opens one of the doors you didn’t choose to revel a goat.

You’re now asked if you want to stay with your fist choice of door or would rather switch doors. What do you do? Your first thought is to stay door 1. After all, it has worked out so far. Since there are 2 doors now, you reason that it’s a 50/50 shot for the prize.

Right?

Wrong!!!

The best strategy for this game is to switch every time.

• The player who’s strategy is to switch every time will only lose when door they initially selected had the prize behind it.

• Since the odds of choosing the prize on the first move are one in three. The odds of losing the game when you switch every time are also one in three.

• This means that a person who switches every time will win two-thirds of the time. This is double the odds of winning of the person whose strategy is to stay every time.

Acceptance and Commitment Therapy

Recently I published a post presenting one of the many hundreds of techniques in mindfulness. It was the 5, 4, 3, 2, 1 method. Many of you acknowledged the value of mindfulness as practiced in psychology but also as a widely popular as an adjunct to conventional medical, psychological therapy, behavioural psychology and an effective tool for increasing emotional intelligence. I wanted to touch on Acceptance and Commitment Therapy (ACT) as a powerful mindfulness-based therapy which currently leads the field in terms of research, application and results.

Acceptance and Commitment Therapy (ACT) gets it name from one of its core messages: accept what is out of our personal control, and commit to action that improves and enriches our life. The aim of ACT is to maximise human potential for a rich, full and meaningful life. ACT is a mindfulness-based therapy.

As we know mindfulness is a mental state of awareness, focus and openness - which allows us to engage fully in whatever we’re doing at any moment. In a state of mindfulness, difficult thoughts and feelings have much less impact and influence over us - so it’s hugely useful for everything from full-blown psychiatric illness to enhancing athletic or business performance. ACT provides a range of tools to learn mindfulness skills, many of which require only a few minutes to master.

ACT breaks mindfulness skills down into 3 categories:

• Defusion - distancing from, and letting go of, unhelpful thoughts, beliefs and memories.

• Acceptance - making room for painful feelings, urges and sensations, and allowing them to come and go without a struggle.

• Contact with the present moment - engaging fully with our here-and-now experience, with an attitude of openness and curiosity.

These skills require us to use an aspect of our self for which there isn’t a word in common everyday language. It is the part of us that is capable of awareness and attention. In ACT, this is often called the 'observing self'. Self can be talked about in many ways, but it’s the physical self and the thinking self. The observing self is the part of us that is able to observe both our physical self and our thinking self.

We can think of it also as awareness.  It’s the part of us that is aware of everything else: aware of every thought, every feeling, everything we see, hear, touch, taste, smell, and do.

Developing psychological flexibility through six core processes in ACT

• Being psychologically present: consciously connecting with whatever is happening right here, right now.

•  Learning to step back or detach from unhelpful thoughts and worries and memories

• Opening up and making room for painful feelings and sensations.

• Accessing both our thinking self and observing self. The thinking self is the part that is responsible for all our thoughts, beliefs, memories, judgments, fantasies. The observing self is the part of our mind that is able to be aware of whatever we are thinking or feeling or doing at any moment.

• Understanding our values and beliefs - what we want our life to be about. What we want to stand for. What we would like to be remembered for by the people we love.

• Committed action by taking action guided by our values, doing what matters even if it's difficult or uncomfortable.

So on the idea of 72 waiting virgins in Paradise

So on the idea of 72 waiting virgins in Paradise

The Quran like other scriptural texts may be talking about a host of topics that may or may not be taken in the literal sense. I’m certainly no expert. It’s been said for example that there are many things in paradise that can’t be described, understood and compared with Earthly notions.

But when it comes to the 72 virgins waiting in Paradise, I thought I’d run the numbers.

1. Let’s start with the ration of men to women her on Earth. It turns out, according to the United States' CIA the Male to Female sex ratio ranges from 1.02 (Malawi) to 1.08 (Singapore). For simplicity let’s say that there are as many Males as they are Females for the sake of the calculation.

2. The virginity rate for men and women aged 25 to 45 is about 14 per cent for men and 10 per cent for women.

3. So if you’re one of 1000 Males who just arrived in Paradise one would want to believe that 1000 Females made it too. But for a Male to find 72 waiting virgins, there must be at least 9,000 (remember 10% of women in the age of 25 to 45 group are virgins) women from which 10 percent would be virgins.

4. For each of the 1000 men to find 72 virgin women about 7200 women must be available and waiting. Imagine a place where there are 10 times more women than men.

The hardships and desperations of the marginalized

As we know the global financial crisis began in July 2007 with the credit crunch, when a loss of confidence by US investors in the value of sub-prime mortgages caused a liquidity crisis. Before the financial crisis, one in eight Americans were poor, a very high level for an otherwise affluent society. The financial crises pushed an additional 7.5 to 10 million people into poverty.

So the 2009 film Broke. had no issue with timing. This beautiful, gritty film Set in a pawnshop, the cinema verite masterpiece tells the story of the unlikely friendship between a cynic pawnbroker and his sweet but psychopathic assistant. Broke. won the prestigious Donald Brittain Award  and was the best social-political documentary of 2010.

Broke. is a complex, powerful account of the day to day life in a pawnshop. The documentary gives us an intimate glimpse into a world most of us luckily do not have to know. Although often as funny and surprising as a sitcom, it bluntly points to the hardships and desperations of the marginalized. As the pawnbroker states: “You don’t see it in your rarefied living conditions, you don’t see how the poor people live, unless you come here. 

Depression history among different professions

Gallup recently decided to rank the occupations in which workers are most likely to suffer from depression. The takeaway: Your boss is probably in a pretty decent psychological place. Managers, executives, and officials were the least likely to have ever been diagnosed with depression. The clerical and office staff who toil beneath them, on the other hand, were diagnosed at somewhat higher rates. Meanwhile, workers in manufacturing or service industries were the most likely to have ever been depressed. The drudgery of clocking in on an assembly line or at a cash register apparently takes a toll, just in case you were wondering.

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