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