Category Archives: Medicine

The Pope and Huntington’s disease

FRANKLIN Soto will develop Huntington’s disease (HD), a lethal genetic disorder that causes progressive mental and physical deterioration and for which there is no cure. His two sisters already have it. His wife died of the disease last year, and his three-year-old daughter has a 75 per cent chance of developing it.

Franklin’s was among a number of South American families who travelled to Rome this week for an audience with the Pope. The Pontiff thus became the first head of state and major religious leader to mention HD, which is thought to affect nearly one million people worldwide. The actual prevalence of the disease is unknown, because families often hide it, and are forced to live in fear and isolation far from the treatment and support they need.

The irony is that it was families from Lake Maracaibo who contributed to the research that led to the identification of the gene responsible for HD in 1993. As a result of that breakthrough, a diagnostic test now exists that means that those at risk can determine whether or not they will develop HD. If they carry a mutation in the gene in question, they will certainly do so, but usually not until middle age. This allows them to make informed decisions with respect to parenthood, to gain access to specialist treatment, and to plan for the future – all options that were unavailable to Franklin.

Hence HDdennomore, as the initiative to bring the South American families to Rome was called. The brainchild of former war reporter and HD advocate Charles Sabine, organised by an international team of HD clinicians and scientists, and funded in part by drug company Teva – which is conducting research aimed at developing new HD therapies – its goal was to lift some of the stigma attached to the disease.

“We all very acutely feel the debt that is owed to those families in Maracaibo,” said Ed Wild, a neurologist and HD researcher at the National Hospital for Neurology and Neurosurgery in London.

“You are precious in God’s eyes, and you are precious to the Church,” Pope Francis told the families. The organisers hope that this message, uttered by the head of the world’s largest non-governmental healthcare provider, will mobilise efforts both within and beyond the Catholic community to provide better care for those affected, while giving patients and their relatives the courage to come forward and be counted – and to continue to take part in clinical research.

We all stand to benefit from their participation, since HD shares disease mechanisms with other, more common neurodegenerative diseases, such as Alzheimer’s and Parkinson’s. That research could therefore lead to drugs that will help the one in three of us who will likely develop dementia in our lifetimes.

This was not in the Pope’s speech, however. He merely called for more compassion towards those suffering from HD and from all rare, genetic diseases – words that have been a long time coming, but that needed to be said.

This article first appeared on the Catholic Herald website on 19 May 2017.

Monuments to catastrophe

THE history of humanity is punctuated with purges. Large numbers of people have died in short periods of time as a result of wars, disease and natural disasters. Once these have passed, it falls to the survivors to count the dead. This is never easy, but it is harder for some kinds of disaster than for others. It may be hardest of all for a pandemic, as Ole Benedictow acknowledged in his 2005 article, ‘The Black Death: The Greatest Catastrophe Ever’…

This article first appeared in History Today on 23 March 2017. To continue reading, click here.

 

 

 

 

How crowds affect your health

GLASTONBURY 1997, the 2002 Winter Olympics in Salt Lake City, the pilgrimage to Lourdes in 2008: what do they have in common? All three were the backdrop to outbreaks of communicable disease, and so of interest to doctors working in mass gathering medicine. The goal of this relatively young field is to address the specific health problems associated with mass events, but two British psychologists now claim that this can only be done effectively by understanding the psychological transformation that people undergo when they join a crowd…

This article first appeared in the BPS Research Digest on 4 January 2017. To continue reading, click here:

https://digest.bps.org.uk/2017/01/04/joining-a-crowd-transforms-us-psychologically-with-serious-health-implications/

Spheres of influenza

the-economist-logoWHEN it comes to infectious diseases, Ebola and Zika have hogged the headlines of late. But the rise of exotic pathogens does not make more familiar ones less dangerous. Epidemiologists are therefore keeping a close eye on two versions of influenza, known as H5N1 and H7N9 (the “H” and the “N” refer to proteins in the viral coat, and the numbers to particular versions of those proteins). Either of these, they fear, might become pandemic…

This article first appeared in The Economist on 15 November 2016. To continue reading, click here.

 

In death, there is life

the-economist-logoMAX PLANCK, the inventor of quantum theory, once said that science advances one funeral at a time. He meant—or, at least, is presumed to have meant—that the death of a dominant mind in a field liberates others with different points of view to make their cases more freely, without treading on the toes of established authority. It might also rearrange patterns of funding, for they, too, often reflect established hierarchies…

This article first appeared in The Economist on 26 March 2016. To continue reading, click here.