Von Willebrand Disease: Types, Causes, and Symptoms
Acromegaly: 'Giant Gene' Bond Forged Between US And Mid Ulster
By Julian FowlerSouth West Reporter, BBC News NI
American woman discovers Irish giant gene ancestryWhen Colleen Snyder researched her family history during the Covid-19 pandemic, she did not expect to discover a connection to the legend of Irish giants.
Colleen, from Virginia in the United States, suffers from a rare genetic condition called acromegaly or gigantism.
The gene caused Charles Byrne, born in 1761 near Cookstown and known as the "Irish giant", to grow more than 7ft 6in (2.3m) tall.
Medical researchers have previously identified Mid Ulster as a "hotspot" where one in 150 people have the genetic mutation, compared to one in 1,000 in Belfast and one in 2,000 in the rest of the UK.
Colleen first developed symptoms when she was eight, but the condition was not diagnosed until she was 20.
Doctors in the USA told her it was rare to develop acromegaly at such a young age.
"They would say we don't know anybody who had it so early so I knew that that was very, very unusual," Colleen explained.
"Through the years I kept trying to find somebody that had the same condition, get more information about it and I couldn't."
That was until she began to research her family history during the lockdown.
"I've always known that I've had Irish heritage and my given name is Mary Colleen which is quite an American-Irish name," she said.
Her great-great grandfather John McGurk emigrated with his three siblings in 1861.
She thought the McGurks came from County Cork, where most ships departed for the transatlantic crossing to a new life in America.
When she looked at her family tree she realised her ancestral home was in fact Clonoe, near Coalisland in County Tyrone, the centre of the giant gene "hotspot".
Brendan Holland (centre) and Colleen Snyder (second from right) meeting with a group including Prof Marta Korbonits and Prof Michael BesserColleen contacted Marta Korbonits, professor of endocrinology at Barts and the London School of Medicine, Queen Mary University of London, who discovered the genetic link for the Irish giant gene.
She sent the results of a DNA test to Professor Korbonits, who confirmed she had the same mutation.
Living carriers of the gene share a common ancestor who lived about 2,500 years ago.
What is the 'giant gene'?
A gene called AIP can result in a non-cancerous tumour in the pituitary gland, a pea-sized gland just below the brain.
It can lead to too much growth hormone being produced and released
Only 20% of carriers of the defective gene will develop symptoms.
These include people growing abnormally tall, hormonal problems and infertility.
In many cases it is disfiguring but it can also be life-threatening.
The condition, called acromegaly or gigantism, can be successfully treated with brain surgery and medication.
Prof Korbonits put Colleen in touch with Brendan Holland from Dungannon, County Tyrone, who is 6ft 9in (2.1m) and a distant relative of Charles Byrne.
Within minutes, Brendan and Colleen were talking on the phone, a moment Colleen described as "very emotional".
"I had been looking for 45 years for someone," said Colleen, "and here's this Irish accent on the phone".
"And all of a sudden I was talking to someone who can understand what it was like to have a pituitary tumour that causes you to have the excess growth and have all the kinds of physical problems that I had."
Colleen Snyder and her sister Cherie have been looking for the McGurk family graves at St Michael's parish cemetery in Clonoe near CoalislandFor Brendan, speaking to Colleen was confirmation of his belief that the gene had been carried overseas by the many thousands of people who emigrated from County Tyrone.
"[Colleen] is actually a product of that immigration in 1861," said Brendan, "and it just reinforced my conviction that this has to be more common than perhaps we realise."
'Rich world of folklore'"It was more than just finding somebody with the same condition, it was making a connection with someone who is fascinated by the whole story, has a shared interest in the history of it," he added.
Colleen recently made the trip to County Tyrone to meet Brendan in person and to visit the townland which the McGurks left for America more than 160 years ago.
After more than a year of zoom calls on a computer, Colleen said the visit had revealed a "rich world" of giant folklore.
Colleen also accompanied Brendan to London to meet Prof Korbonits and others who are involved in treating and researching the condition.
For Brendan and Colleen, their shared experience is part of a mission to educate people about the importance of knowing if you have the gene so that they can be tested and treated to avoid the devastating effects which they experienced of having a tumour.
"For me, to find out that I'm the first person in the United States that they found with this, that's pretty cool, I feel great," said Colleen.
"It's wonderful, but wait a minute there's got to be other people."
They now plan to co-write a book to raise awareness amongst the Irish diaspora.
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Irish Giant Folklore Might Be Explained By Genetic Study
Genetics research published in 2016 could help explain the legend of giants in Irish folklore.
The study, led by Barts and the London School of Medicine and Dentistry, Queen Mary University of London, in collaboration with the universities of Exeter, Belfast and Dublin and University College London as well as 17 other Institutions, studied patients with the hormonal disorder acromegaly and tested DNA samples from the general public to identify carriers of a gene predisposing to childhood-onset acromegaly often leading to gigantism.
They undertook an ambitious and widely collaborative study, enlisting the invaluable help of patients and the general public to set the study up in Northern Ireland and Republic of Ireland.
They identified a particular mutation in Irish patients and now searched for carriers of this gene in Ireland.
The frequency of the AIP mutation (R304*) was found to be surprisingly high in Mid-Ulster, Northern Ireland.
The data suggest that all Irish patients with this particular mutations (18 families and 81 carriers) are descendants from the same ancestor, who lived in the area 2,500 years ago.
Out of the identified 81 carriers 31 had developed acromegaly and over half of these had gigantism (18 patients, 58%).
Subscribe to IrishCentralThe researchers said: "The clinical importance of this study is that we can now screen family members and carriers can be followed to pick disease up early.
"Our larger study has showed that 24% of seemingly unaffected gene carriers in fact have early signs of acromegaly, and some were immediately operated as a result of the genetic screening process."
The researchers added: "This study may also give a scientific explanation for the numerous Gaelic myth of giants in Ireland, where the Giant Causeway and the legend of the creation of a lake is strongly linked to giants.
"In modern history, famous Irish giants include Charles Byrne whose skeleton in the Hunterian Museum, London was studied and DNA sample showed he also carries the same mutation.
"There is data available of numerous giants living in this area over the last centuries such as Mary Murphy (the 'Portrush Giantess') and James Kirkland (one of the 'Potsdam Giants') making this data support a colourful story."
Professor Sian Ellard of the University of Exeter Medical School, who collaborated on the research, said: "Irish folklore has numerous stories regarding Irish giants and the remains of some of these giants have been studied in the past.
"Our data provides an explanation for the observation made by the pioneering anthropologist James C. Prichard in 1826."
Prichard wrote: "In Ireland men of uncommon stature are often seen, and even a gigantic form and stature occur there much more frequently than in this island [Britain] . . . We can hardly avoid the conclusion that there must be some peculiarity in Ireland which gives rise to these phenomena."
The researchers added: "Importantly, the prediction that 436 carriers and 86 affected individuals may be undiagnosed and alive today in Ireland (or elsewhere among people with Irish ancestors), mean that we may be able in many patients to prevent the onset of gigantism and prevent the premature mortality associated with this potentially severely disfiguring condition."
Man Didn't Think Anything Of Drinking 20 Litres Of Water A Day Until Grim Diagnosis
Tom Mayor, 34, was always lofty as a child but put it down to genetics as his family are also tall but later discovered he he had an undiagnosed brain tumour
Tom Mayer was diagnosed with a brain tumour and is now raising money for charity (Image: SWNS)
A man discovered he was suffering from an undiagnosed brain tumour which had caused a growth spurt and helped turn him into a semi-professional goalkeeper.
Standing at 6ft 6ins with unusually large hands, Tom Mayor, 34, assumed it was his family genes as everyone in his household was tall. He played for football clubs including Northampton Town F.C and Leicester City Football Club Youth Academy but when coaching football in America in 2014, he started experiencing painful migraines.
A scan discovered a brain tumour and doctors diagnosed Tom with a unique growth hormone disorder known as acromegaly, famously highlighted by the James Bond foe Jaws. They assumed the unseen tumour probably sparked the acromegaly which caused him to grow exceptionally tall with big mitts.
To commemorate ten years post his initial surgery, Tom puts himself to the test by running, walking, swimming, or cycling 10km every day for ten relentless months with the goal of raising funds for Brain Tumour Research. Tom told LondonLive: "I was always taller than my friends but never freakishly tall, my brother is 6'2 so is my dad. My hands were large for my age and my fingers would swell up like a pack of large sausages."
"I was a goalkeeper and a very active child who got into a lot of accidents - but it was part of growing up! Never anything unusual. I've always been tall which I put down to my family genes however, doctors told me my height was probably spurred on by the tumour.
A decade ago, Tom started suffering from a headache which felt like a 'hangover'. It was then he was diagnosed with a pituitary tumour. He added: "I have never had a hangover because I've always had this headache. The only way to describe it is like a pressure headache pressing by my eyes, like a constant push right on my forehead - it's there 24/7 seven days a week and I had that for 10 years.
Tom with Ben Shepherd during a charity football match (Image:
Brain Tumour Research / SWNS) Tom in 2014, after having surgery (Image:
Brain Tumour Research / SWNS)"All the medical professionals I have spoken to say I might have it for the rest of my life - a real kicker. It was annoying, I took some tablets and it wouldn't go away, I couldn't sleep - I thought it was weird, wondering what it is and just trying to figure it out."
Tom was told he "probably" had the tumour since he was a baby, which led to his acromegaly. He explained: "You either get it at birth and you always have an obvious large body part, or around your growth spurt age. Because I had a tumour, the doctors said I had probably had it from birth - if they had tested my growth hormone as a kid we would have known."
After his first surgery to remove part of the tumour, Tom ended up with diabetes insipidus, making him very thirsty. Without his meds, he could drink up to 20 litres a day. He added: "I now drink about nine to ten litres a day but with no medication it's nineteen to twenty litres a day - if I drink for thirst I will be forever drinking."
Now, Tom is celebrating 10 years since his surgery by doing a big challenge for Brain Tumour Research. He'll do 10km of moving every day for 10 months, including running, cycling, and swimming.
Tom added: "I am not one to sit on my arse and think how tough my life has been - I call it my tumourversary because I celebrate the fact, I got my diagnosis because I wouldn't be who I am now. If people could get diagnosed and treated earlier they wouldn't have to go through this, whatever brain tumour it might be - they are all horrible and debilitate your life in some way - awareness is what you need and if I can do a little bit to raise awareness, that is great."
You can check out Tom's journey on his challenge and help his fundraiser here.
* An AI tool was used to add an extra layer to the editing process for this story. You can report any errors to webhomepage@mirror.Co.Uk
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