Ann Teehan has always felt tired. But, like most people, she put it down to the busy nature of modern life: working, school runs, friends and family.
“I have four kids, I’m a nurse, I have my own business. I was just always busy, and assumed I was doing too much. I put it down to that. I’ve always been tired, that’s just the way I am,” she said.
But about six years ago the Co Wicklow nurse developed abdominal pains that led to her going to the doctor. “They did some bloods to see what was going on. There were a few strange things in the bloods so they suggested I have the gene test done. I had that done and it came up that I had the genes. I had haemochromatosis.”
Haemochromatosis is an inherited condition where iron levels in the body slowly build up over many years. Also known as the Celtic gene because it is more common in countries such as Ireland and Scotland, an estimated 20,000 people in Ireland are believed to have the condition but are undiagnosed. If left untreated it can lead to organ damage and premature death.
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Speaking in advance of Haemochromatosis Awareness Week, Ms Teehan said after she was diagnosed she sent her mum Lily and sister Fiona to be tested. They also were diagnosed with the condition.
“I had obviously heard about haemochromatosis and knew it was the Celtic gene but I never really thought about it or considered it. It was funny how I kind of led to them [her mum and sister] being diagnosed.”
Prof John Ryan, consultant in hepatology and gastroenterology at Beaumont Hospital, said haemochromatosis is a “genetic condition” in which people absorb too much iron in their diet.
“Over time that iron can build up in various parts of your bodies, particularly your liver, but also it will affect your pancreas, your heart, your brain, your joints and your bones,” he said.
“And so over time that iron can become damaging and cause liver disease like cirrhosis or liver cancer, and we see people with other problems such as diabetes, osteoporosis or heart disease. It really affects all parts of your body, but it happens gradually over your life.”
Prof Ryan said half of people have symptoms, and half do not. For those that do fatigue is the “big problem”, as well as muscle and joint pain, particularly in the hands and knuckles. Family testing is so important.
“It runs through families. Not everybody in the family would have it, but one in five Irish people are carriers. It’s very common, and while one person might have haemochromatosis their sibling might carry it. It is very important if someone is diagnosed with haemochromatosis that they tell their family to get tested.”
Anna McCarthy had different symptoms that led to her diagnosis more than a decade ago. She was doing a lot of swimming at the time when she injured herself. Following this injury she got bloods done which found her iron was “really high”.
“I just didn’t know what she was talking about when she said I had haemochromatosis. I asked if I was going to die from it, and they said no so I decided I could deal with it. If she had not caught the condition then I would have had liver damage,” the Dubliner said.
“I had to give about 40 pints of blood to get my iron back down to normal levels. Now I can just donate blood.”
Family testing is also something Ms McCarthy feels strongly about. “Four people in my family have it. My children are carrying it as well. If you have any symptoms you should get tested. Diagnosis is very important.”
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