TO THE casual observer, accountant Sara Byrne is just like any other twenty-something, but her chatty, outgoing manner belies the debilitating condition which dogged her for years and resulted in three major surgeries.
It all started with a dull ache in her right hand side in March 2005, when Sara, now 27, was sitting her Mock Junior Certificate exams.
Her appetite gradually dwindled and the teenager began to throw up when she tried to eat. By July, she had lost three stone. Tests resulted in a diagnosis of Inflammatory Bowel Disease (IBD), a difficult but not uncommon condition — an estimated 40,000 people in Ireland have IBD, explains Professor Glen Doherty, Consultant Gastroenterologist, St Vincent’s University Hospital. There are two major forms of IBD, Crohn’s Disease (CD) and Ulcerative Colitis (UC), both life-long conditions for which there is currently no known cause or cure.
Ireland has one of the highest rates of colitis in the world and this country’s first population-wide genomic research study has now been launched in an attempt to find out why.
It’s believed that genomics research, which is the study of all of a person’s genes (the genome), including the interactions of those genes with each other and the person’s environment, has a critical role to play in the identification, prevention and treatment of disease and rare conditions. The study has been launched by the life sciences company Genomics Medicine Ireland with St Vincent’s and Tallaght Hospitals and it’s hoped its findings will help scientists better understand this condition which typically begins in childhood or in young adults.
While IBD generally can affect educational performance and work productivity, as well as quality of life, Crohn’s Disease is associated with increased mortality in the Irish population, while there is an increased risk of colon cancer to people with either Crohn’s Disease or Ulcerative Colitis.
For Sara, the IBD diagnosis was only the first step in a long and painful journey. From 2005 onward, she underwent a number of different treatments, and at one stage was even put on a six-week tube feed to rest her digestive system. However nothing worked and two years after those first symptoms– by this stage she was due to sit her Leaving Certificate – Sara underwent surgery and remove 30 cm of her small bowel was removed.
This helped for several years, but in 2013, when she was 23 and working as an accountant, she began to get severe pains in her belly.
“They were much more severe than anything I had experienced previously,” she recalls, adding that she was admitted to hospital and put on a liquid diet. However each time she tried to re-introduce food, the pains returned. Eventually Sara went on a liquid-only diet for 13 weeks followed by surgery which involved the removal of four different sections of the small bowel.
She was fed through a vein in her arm and had to have a temporary stoma, which is a surgically created opening from the abdomen to the bowel or urinary tract used to eliminate either bowel or bladder waste.
However, following more surgery, Sara began to feel much better than she had in years. By now a total of 72 cm of her small intestine had been removed:
“We still don’t know what caused it,” she says, adding that the condition forced her to take a total of five months off work and defer an accountancy exam by a year. “It was a nightmare,” she recalls, adding that members of her extended family have recently been diagnosed with forms of IBD:
Ireland has seen a significant increase in Inflammatory Bowel Disease in children over the years, according to Professor Doherty, who says that experts believe it may be to do with changes in the environment, early-life exposure to antibiotics, or antibiotics in food products.
On top of that, he explains, today’s babies and children tend not to be exposed to as many infectious bacteria in infancy and childhood as previous generations. It’s believed this may lead to an immaturity in the gut:
“For example we had more gastroenteritis in the past, and although this would have been life threatening to some children, overall it would have made the immune system in the gut more robust as they grew older,” he says.
IBD can have a significant ‘knock-on’ effect not only on the education and careers of children and young people, but also on a personal level he says:
“Young people can be very body conscious and they may need to have surgery to remove some of their intestine or have to wear a stoma.
“That can be a huge challenge for them to adjust psychologically to that possibility.” The new study, which is expected to run over two or three years across several Irish hospitals, is expected to produce significant findings:
“Ireland is an island with a relatively homogenous genetic background.
“Therefore, at genetic level it is the ideal place for a genetic study into why some people seem to be predisposed towards this condition,” says Professor Doherty, adding that in certain families a number of people can be affected by the condition.
Professor Deirdre McNamara, Consultant Gastroenterologist, Tallaght Hospital believes the study will enable scientists to gain a comprehensive understanding of the interactions between genes, environment, biology and the disease.
“IBD has evolved into a global disease — over 2.5 million in Europe, and one million residents in the USA are estimated to have IBD, while its prevalence is also on the rise in newly industrialised continents.
“Irish IBD patients have an opportunity to contribute to potentially life-changing research that will benefit not just our patients here in Ireland but potentially people with IBD throughout the world”.
The study will run in hospitals across Dublin, Galway and Cork, says Professor Doherty.
“Our goal is to get 5,000 to 6,000 patients with CD or Colitis involved in the study,” he explains, adding that patients will fill in a detailed questionnaire and undergo blood tests, The results, it’s hoped, will help scientists understand both why the condition has increased so significantly in recent years, and why, as a nation, Irish people are particularly vulnerable to it.
“This will be the biggest ever study in Ireland into this disease and we are very excited about it. This research will have an international impact as well as an impact in our own country.”