‘The Methuselah Paradox’: background


Progeria is a rare, fatal, genetically determined disease of childhood characterized by dramatic, premature ageing that occurs at about seven to ten times the normal rate. Because of this accelerated ageing, a child of ten years will have similar respiratory, cardiovascular, and arthritic conditions that a 70-year-old would have. Progeria is the most radical of the ageing illnesses.

Its name is derived from Greek and means “prematurely old”. The condition is estimated to affect one in 8 million newborns worldwide with a total reported incidence of just over 100 in the century since it’s been identified. There are currently around 90 known cases worldwide of Progeria. In the past 15 years, children with Progeria have been reported all over the world, including in Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam, and Yugoslavia. The most severe form of the disease is Hutchinson-Gilford Progeria Syndrome, recognizing the efforts of Dr. Jonathan Hutchinson, who first described the disease in 1886, and Dr. Hastings Gilford who did the same in 1904. As newborns, children with Progeria usually appear normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than others their age. While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically seen in much older people: stiffness of joints, baldness, hip dislocations and severe, progressive cardiovascular disease. Death occurs on average at age 13, usually from heart attack or stroke. Most children with Progeria don’t live beyond their early teenage years, though one or two have lived to their early 20s. Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, one of the leading causes of death worldwide. As with any person suffering from heart disease, the common events for Progeria children are high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with ageing. Thus, there is clearly a tremendous need for research in Progeria. Finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural ageing process. (text taken from the ‘about’ page of Progeria UK )

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The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. Scaffidi P, Gordon L, Misteli T. PLoS Biology Vol. 3/11/2005, e395 doi:10.1371/journal.pbio.0030395 Used under the Creative-Commons-Attribute-ShareAlike license. Please notify admin@neonskybooks.com if you have any concerns.

Why Progeria? Author of ‘The Methuselah Effect’, EJ Jackson, explains how learning about Progeria changed the focus of her first full-length novel: When I finished the first draft in  early 2012, it was little more than a love story with a vaguely science-fiction twist to it. I wanted to tell Eva’s story of tragic loss and how she finds a new love in the form of Tom, and then in a second draft, how they have a daughter together, called Emma.  I knew from quite early on that Tom would also have suffered a terrible loss – his son Nathan had been born with a condition which ultimately took his life, and unfortunately Tom’s marriage to Alice had not survived the loss, even though Nathan’s twin Mary had been born healthy.   The question was, which disease would poor Nathan have? Whatever it was, I didn’t want it to be just a vague reference in Tom’s back story, and I didn’t want it to be a cliche. I started to look around on the web to see what I might be able to use, aware as I did so of the uncomfortable feeling that I was seeking to make capital on someone else’s misfortune…

Then I came across a website which talked about a disease I had never heard of before –  Progeria. As I read about the short -but often brilliant- lives of the young sufferers, I was moved to tears. Perhaps because of its low incidence rate (compared to diseases like cancer, that is) Progeria did not, it seemed to me, to attract much in the way of research funding – most of it being raised by families desperate for a cure.  I clicked away from the website feeling sad and helpless. Then I started to think…  We live in a society where youth, strength, health and beauty are prized – we spend millions each year on products and treatments designed to keep us looking young, even whilst knowing that ageing is inevitable. If someone could find the golden key to keep us eternally young…

I did some reading into genetic cures, remembering as I did so the film ‘Blade Runner’ (adapted from the novel ‘Do Androids Dream of Electric Sheep?’ by Philip K Dick) in which artificial humans are created to do mankind’s dirty work – but after approximately three years the replicants began asking questions, began to want a longer life span. Phrases like ‘recombinant DNA’ and ‘virus’ were used by the creator of the replicants in conversation with the leader of a rebel group (with whom my sympathies very firmly laid) and slowly an idea began to form… What if, in the future, a genetic cure for ageing might be found?  And what if that cure was to be discovered during research into a cure for Progeria?  The idea that it could be turned from a medical cure into something much more marketable wouldn’t go away… and that is how Nathan came to be born with Progeria, and how the rest of the story fell into place.   In taking this idea to the conclusion I did in my book, I sincerely hope that I have not been disrespectful to the sufferers and families of those with progeria.

I intend, when ‘The Methuselah Effect’ is published, to make it subject to a Gift Aid donation with each purchase, in the hope that I -and hopefully my readers- might be able to make a difference.

For more information about Progeria in the US, see the Progeria Research Foundation website. Research is ongoing, and you can read about one breakthrough in treatment here. If you’d like to help ahead of publication, please Donate with PayPal to donations@progeria.co.uk , thank you.
You can also read Hayley Onkine’s moving story of her life with Progeria, ‘Old Before My Time’,  available on Amazon HAYLEY ONKINE OLD BEFORE MY TIME

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