Fall from a horse leads to more serious diagnosis

Sean Carter: diagnosed with haemochromatosis. Photo: Johnny Ryan Photography.

If it wasn’t for a fall from a horse, a Tuam man could have found himself with a much bigger problem than just a sore back.

Because after the horse riding incident Sean Carter suffered not only backache, but also noticed a pain in his chest.

He went to see his company’s doctor after the fall, and the doctor asked him about his colouring. Confused, Sean questioned the doctor if he was an abnormal colour.

The doctor told him he was a bronzy-grey and that he would do one more test to check it out.

Because of the doctor’s observations Sean, who was 45 year old at the time, was diagnosed with haemochromatosis.

Haemochromatosis, or commonly known as the Celtic Mutation, is a genetic condition where a person absorbs an excessive amount of iron from their diet.

The iron is then stored in the body and it affects the liver, heart, pancreas, endocrine glands and causes pain in the joints.

The iron overload can lead to impaired function of those organs and eventually result in disease and organ failure.

Shockingly, more people in Ireland are affected by the disorder than in any other part in the world. About one in 86 people in Ireland have haemochromatosis, but one in five people carry the gene.

Since iron can build up slowly, symptoms might not appear until people hit 30 or 40 years old.

One indication of haemochromatosis is chronic fatigue, but when Sean experienced tiredness he just thought it came with his age.

“I would be nodding off while watching a rugby game even though I really wanted to watch the game. I thought it was just because I was in my forties,” he said.

Other indications include skin pigmentation, abdominal pain, arthritis and diabetes.

Since many of the symptoms can be found in other disorders, when arthritis affects just the first two finger joints there’s a high probability that it is haemochromatosis, according to the Irish Haemochromatosis Association

If the disorder is caught early, the treatment is rather simple.  A person gives blood a few times a year for life to remove the excess iron.

However, since Sean caught his later in his life he gave 65 pints of blood in just 70 weeks, but now he’s down to giving the normal amount.

Since Sean’s wife is a carrier of the gene, Sean made sure his four children were tested to see if they had the disorder.

One of them tested positive, but fortunately it was caught early enough that his son only had to give blood a few times a year.

Sean, who is now 66, said it’s incredible how many he knows who have the disorder.  Since it’s so common he finds important to educate the community.

“When we first started creating awareness about ten years ago people looked over and asked what haemochromatosis was. They couldn’t even pronounce it,” Sean said.

“Now people know about it because maybe their parents or someone has it. So we asked if they and their brothers and sisters have gotten tested and they haven’t.”

Since it’s a very simple test, Sean believes people should get tested for their own health.