In Search of Giants is a newly released book which brings to life research into the genetic gigantism related to an AIP genetic mutation found in Northern Ireland. Written by Colleen Snyder and Brendan Holland, it combines stories about modern-day giants, coping with the effects of their medical condition, with cutting-edge molecular genetic research, to reveal how science and the legends of Irish giants intertwine.1
The book was launched at the Royal College of Surgeons’ Hunterian Museum in London on 10 September and in Belfast at the Joint Irish–UK Endocrine Meeting on 14 October 2024. Here, author Colleen Snyder explains more.
TESTING POSITIVE FOR THE AIP MUTATION
Even though I am Irish-American, I knew nothing about the small area in mid-Ulster in Northern Ireland that is steeped in giant lore and legends of giants.
'My life changed one boring afternoon ... during the Covid-19 pandemic, when I did a Google search about childhood acromegaly.'
I had a pituitary tumour and acromegalic gigantism when I was a child, but I wasn’t diagnosed until 1976 when I was 20 years old. Although my transsphenoidal surgery was a success, I had a lot of psychological problems related to the changes in my body and the fact that I knew no one else with the same condition.
My life changed one boring afternoon 40 years later, during the Covid-19 pandemic, when I did a Google search about childhood acromegaly. Up popped Professor Márta Korbonits’ paper about genetic gigantism in Northern Ireland, entitled ‘The AIP mutation in pituitary adenomas in the 18th century and today’.2
I did some digging and found out that my great-great-grandfather had come from the area, so I asked my endocrinologist to test me and, much to my surprise, I had the AIP gene mutation that Professor Korbonits had linked to that region.
DEVELOPING A COLLABORATIVE BOOK PROJECT
I emailed Professor Korbonits at the William Harvey Research Institute in London, who told me that I was the first person in the USA that she knew with this AIP mutation. I was surprised to find out that I was actually related to the well known 18th century Irish giant Charles Byrne, who came to London from that area.
She put me in touch with my co-author, fellow patient and historian, Brendan Holland, who has lived in the geographical hotspot for the gene mutation his entire life. Brendan and I hit it off immediately and decided to work together on the book project, which had been started by Brendan and Márta some years before. I am a professional writer, and Brendan is a historian in the area, so his encyclopaedic knowledge and deep connections in mid-Ulster were invaluable.
We first met through a video chat, followed my many others, and were fortunate to have the guidance of Professor Korbonits and Dr Ben Loughrey, of Queen’s University Belfast. A great deal of serendipity brought this manuscript together, detailed in the book, and the whole project took about three years.
FOCUSING ON MÁRTA KORBONITS’ RESEARCH
The front cover of In Search of Giants
My primary goal in this book was to tell the story behind the genetic discoveries about Irish giants, and to have stories about patients who have benefited from this research work.
Brendan first encountered Márta’s research in 2009, during the making of the BBC documentary ‘Charles Byrne: the Irish Giant’.3 Art and science come together in this documentary, which combines the tragic tale of Charles Byrne with Professor Korbonits’ research, and Brendan’s realisation that he has the genetic mutation.
The book includes the story behind the 2013 community screening for the AIP mutation in the local supermarkets of mid-Ulster. This brought local volunteers together with endocrinologists from around the world in two towns in the geographic hotspot for the mutation.4 More than 40 people were credited in the resulting paper, ‘Increased population risk of AIP-related acromegaly and gigantism in Ireland’.5
THE GOAL OF IN SEARCH OF GIANTS
Having a rare disease such as gigantism is very isolating, often entailing a lengthy diagnostic odyssey. Patients ache to find others who share their experience and understand. The goal of this book is to find others with similar diseases, in the hope of heading off the pain, blindness, infertility and life-threatening challenges that having gigantism can bring. We hope that the stories of those with gigantism can serve as inspiration for anyone with a rare disease.
For more information about the book, or to place an order, visit www.insearchofgiants.org. For details of Márta Korbonits’ research and for extensive information about familial isolated pituitary adenomas, consult the FIPA website at www.qmul.ac.uk/fipa-patients.
COLLEEN SNYDER
Colleen Snyder is an Irish-American writer whose ancestors came from mid-Ulster. She was the first person in the USA to be identified with the Northern Ireland variant of the AIP genetic mutation, which caused her gigantism. Her work has appeared in The Washington Post and Destinations magazine.
REFERENCES
1. Snyder C & Holland B 2024 In Search of Giants Fairsing Publishing https://www.insearchofgiants.org.
2. Chahal HS et al. 2011 New England Journal of Medicine https://doi.org/10.1056/NEJMoa1008020.
3. BBC (dir. Ronan McCloskey) 2011 Charles Byrne: The Irish Giant https://www.youtube.com/watch?v=xLA-KZ7sBLg.
4. Radian S & Herincs M 2013 The Endocrinologist 108 24 https://www.endocrinology.org/media/1276/108.pdf.
5. Radian S et al. 2017 Human Mutation https://doi.org/10.1002/humu.23121.
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