Michael Hallissy’s Story

Michael  who  comes from Killarney  now lives in Kildare with his wife and two children.

Originally he trained and worked as a teacher but has been an IT consultant for the last 20 years. He was diagnosed with Haemochromatosis (HH) in August 2008. He says it was a red letter day for him as he finally knew what was wrong with him! Over 20 years ago he played a lot of both football and hurling at his college in Cork. He would come home from school and have a nap before heading out to play another game.  He thinks that maybe the iron helped him at this stage but he does remember chronic tiredness in his early twenties.

As time moved on he lived abroad. The tiredness was always there. As he moved into his thirties he felt very lethargic and chronically fatigued. . He visited his GP who put him on iron tablets. After three years he started to develop soreness in his knuckles.  His dad had just been diagnosed with Haemochromatosis. His sister had also been tested and had HH. Michael who is from a family of ten then decided it was time for him to be tested and was very relieved to know that there was a reason for his symptoms. His iron levels were over a thousand.  He attends St James’s Hospital  for venesection and has  been very appreciative of the great treatment he has received  from  the  brilliant nurses.

The IHA appreciates the fact that Michael  highlighted the importance of early diagnosis in an interview on TV 3.  He also helps every year on the stands for the Annual Awareness Day

Kate

Ann O’Sullivan Dooley tells her story :

'I was diagnosed with Haemochromatosis in1990. I had been living in Brussels since 1973 where I worked with the European Commission. I will soon move from Brussels to Kilkenny to live.

My main symptom was chronic fatique. A wonderful English female doctor in Brussels pursued the matter, decided to test for Haemochromatosis and this diagnosis was eventually confirmed.

Hereditary Haemochromatosis (HH) is a commonly inherited disorder where the body absorbs too much iron from the diet. The iron is then deposited in, and can ultimately damage, organs such as the liver, heart and pancreas. When a person has too much iron in their body they are said to have 'iron overload'.  Needless to say I had never heard of Haemochromatosis, let alone pronounce it - and there was no Internet or Google in those days!  A liver biopsy was carried out in a hospital in Leuven, the result was "idiopathic haemochromatosis without cirrhosis" My ferritin level was 1200 ng/ml which was sky high !  I had an enlarged liver and bronze pigmentation was pointed out.

Nowadays a blood test to check iron levels and a genetic test confirms a diagnosis of haemochromatosis (the gene which causes Haemochromatosis is known as the HFE gene and was was only identified in 1996).

I was apprehensive when told that the treatment involved having my blood taken regularly . I need not have been and I have had regular venesections roughly every two months without any problems.   

I attend the day clinic in Erasme Hospital in Brussels. I follow a life maintenance to ensure my iron levels are at a safe level to keep me healthy. I have a yearly check up and blood analyses. Depending on my results (iron, ferritin, transferritin) I get a prescription for venesection either every 6 weeks or 8 weeks. Sometimes my blood pressure decreases a bit, but after a rest it returns to normal.

Because it is a hereditary condition, tests were carried out on my family. My brother and two of his daughters have Haemochromatosis.

I joined the Irish Haemochromatosis Association where Margaret Mullet has carried out trojan work to increase the Awareness of Haemochromatosis. Margaret and the Association have done a great job, constantly raising awareness throughout Ireland. They organize Awareness Days, information stands and support meetings in various towns and cities where they have specialist guest speakers, questions & answers etc.  They also organize a stand at the Irish National Ploughing Championships, and participate in the women’s mini marathon.  They generally keep members informed and up to date through their very informative Newsletters and their Annual General Meeting.  

I was very happy to have been at one such Awareness Day in Kilkenny last November where Professor Dr Gary Courtney and nurses Pauline, Linda, Noreen & Angela from the Hepathology Unit at St Luke’s Hospital gave an excellent presentation. Dr Courtney gave a very clear and comprehensive overview of Haemochromatosis.

My husband and I have bought a house in Kilkenny and we will soon move there to live. I will continue my treatment in St Luke’s and I was very reassured by the doctor and nurses when they outlined the local monitoring and care facilities for Haemochromatosis treatment.

 

                                                         

                          

Kate

Jim Jackman Haemochromatosis Story

SHOUT IT FROM THE MOUNTAINS

‘Last year, I was diagnosed with Haemochromatosis.  I was 59 at the time and for the previous five years, I had been on medication for gout, pseudo gout, high cholesterol and eventually, rheumatoid arthritis. Because of these conditions and the high level of medication I was on, my blood levels were routinely   monitored   over the years.

Early last year, my GP, who was concerned at the results of recent blood tests, asked specifically that my iron levels be checked. 

My ferritin level came back as 1400, whereas the normal level in men ranges from 30-300.  The percentage transferrin saturation level was then checked and this level was also raised. Because both levels were raised, the doctor suspected that I had Haemochromatosis. This was confirmed by a genetic test.

Haemochromatosis is a hereditary disorder and to have it, I would have inherited a faulty gene from each of my parents. I was shocked that now, aged 60, I had this new ’ailment’.  Considering I was a blood donor with over 169 donations, I would have thought that such a blood disorder would have been diagnosed earlier on in my life. The Blood Transfusion Board refused to take my blood because there was too much iron in it. [However, the IBTS will now take your blood in their clinics in Dublin and Cork, provided that the ferritin is below 600. It is hoped that over the next year, this will happen nationwide.]


The treatment for Haemochromatosis is venesection/ phlebotomy or, in everyday language, having a pint of blood removed. This is done every week until the Ferritin levels in the body are restored to normal. After that, one is in maintenance and blood is usually taken three or four times in the year.

I was encouraged by my GP to inform close relatives. My two brothers only inherited one faulty gene each, so they were carriers but my sister who inherited a gene from both parents was also diagnosed with Haemochromatosis a number of months ago.   

After my diagnosis, two major concerns were at the forefront of my mind.  Firstly, I was anxious to get my Ferritin levels to safe limits. This proved more complicated and frustrating than one would have expected. If I went public, the waiting list was unknown. I decided to go private and was seen straight away by an excellent consultant in the Mater hospital. It took approximately 4 months, post diagnosis, before regular venesection took place.

The other major and real concern was how much damage had been done to my body because of the high concentration of Ferritin in my body over my lifetime.  

I was sent for an ultrasound on my abdomen region and a fibroscan on my liver. Fortunately, both came back fine. No damage had been done to my liver or other vital organs. The reason that no apparent damage was done was put down to the fact that I had donated so much blood over the years.
  .
 I feel very lucky that I found out. My dad suffered from terrible abdomen pains all his adult life. He was only 58 when he died in 1982, after having two major operations in the space of four days on his stomach. The gene for Haemochromatosis was only discovered in 1996. My father always had a high colour and I believe now that he had undiagnosed Haemochromatosis. His father died in 1950, aged only 57, with heart muscle issues and I believe Haemochromatosis was an issue in his early demise.

So far, in my own family, my wife found out she has one gene, so she is a carrier. Two of my thre children are carriers. The third will be getting tested soon.

I feel strongly that people who know that they have the condition have a moral imperative to be proactive in creating awareness of the condition. As I said earlier, we are the lucky ones, we know we have it and it is very treatable. Shout it from the mountain tops if you have to.
 

Kate

MY STORY: CONCHÚR Ó BROLCHÁI

My own personal haemochromatosis journey has been an interesting one. My father was diagnosed with Haemochromatosis in 2002 after bouts of severe fatigue that actually culminated in him being diagnosed with terminal cancer. His passing was extremely sad and traumatic for us all, but it did provide a catalyst for close family members to be tested for iron overload. In the months following his death all of his brothers were found to be haemochromatosis sufferers, a rarity apparently, that has led us all on a journey of comparing and contrasting phlebotomies and iron ferritin levels for the best part of 15 years.

In my efforts to be more informed about the disorder I have taken a great interest in my iron ferritin levels from phlebotomy to phlebotomy. I have worked out that giving a unit of blood seems to reduce my iron ferritin level by around 50-60 points each time. The last text I received from my local medical centre stated that my ferritin levels were 77, the text message before that stated 124 and the one before that was around 180. This isn’t an exact science however and all sufferers of haemochromatosis know that there can be many different variables that affect ferritin levels. That said, and in light of the sheer amount of phlebotomies that I have had over the past 15 years, I feel like I have developed the capacity to make an educated guesstimate.

Despite the minor inconvenience of frequent phlebotomies and the occasional anxiety about symptoms that may affect me in later life. I believe wholeheartedly that having haemochromatosis has helped me to develop a deeper consciousness about health, wellbeing and diet. My most recent wellbeing adventure has culminated in a decision to become vegan. If it was the diagnosis of haemochromatosis that sparked my search for a healthy lifestyle and diet, it was various Netflix animal welfare and environmental documentaries that have pushed me over the edge into a plant based eating lifestyle. Not only has my cholesterol dropped to 4 but in light of the Irish Haemochromatosis Association’s information booklet, detailing the difference between haem and nonhaem food sources along with a thorough description of inhibitor foods, it appears to be a positive health decision for me. Although I will need to continue to stay informed about the Celtic curse and also to have iron ferritin levels monitored regularly, I can say with hand on heart that having ‘the bloods’ under control, keeping alcohol consumption to a minimum (except when the Galway hurlers won the allIreland) and eating healthily has lead me to a place where I feel happy, energetic and healthy.

Sincerest thanks to Conchúr for sharing a very interesting story.

Kate

FALL FROM A HORSE LEADS TO A MORE SERIOUS DIAGNOSIS

 If it wasn’t for a fall from a horse, Sean Carter could have found himself with a more serious problem than just a sore back.

After a horse riding incident, Sean Carter suffered with backache and chest pain. He went to see his doctor after the fall, who enquired about his colouring.  Confused, Sean asked the doctor if his colour was abnormal. The doctor told him that he had a bronze/grey pallor and that he would conduct a test to investigate.

Due to the doctor’s observations Sean, who was 45 at the time, was diagnosed with Haemochromatosis. Haemochromatosis, commonly known as the Celtic Curse, 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 may affect the liver, heart, pancreas, endocrine glands and cause pain in the joints. The iron overload can lead to impaired function of those organs and eventually result in disease and organ failure.

More people in Ireland are affected by the disorder than in any other part in the world. About one in 86 people in Ireland are predisposed to have iron overload, but one in five people carry the gene. Since iron can build up slowly, symptoms might not appear until people reach 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. Other indications include skin pigmentation, abdominal pain, arthritis and diabetes. Many of the symptoms can be found in other disorders. However, when arthritis affects just the first two finger joints there’s a high probability that it is haemochromatosis.

If the disorder is diagnosed early, the treatment is simple.  A person gives blood to remove the excess iron. This is known as venesection and the numbers of units of blood that have to be taken depend on how high the iron level is at the time of diagnosis.

When Sean was first diagnosed his iron levels were very high and he gave 65 pints of blood in just 70 weeks!  However, he has now dramatically reduced his iron levels and he just needs to gives blood a few times a year.

Since Sean’s wife is a carrier of the gene, Sean made sure his four children were tested to see if they had the condition. One of them tested positive, but fortunately he was diagnosed early.

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

“When we first started raising awareness about ten years ago there was very little understanding of the disorder”, Sean said. “Now people know about it because it is so common. We also encourage the relatives of those diagnosed to get tested”.

This interview with Margaret Langevin was originally published in the Connacht Tribune on June 5th 2016

Photo: Johnny Ryan Photography

 

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Kate

John O’Brien describes how a dive on the barrier reef uncovered a haemochromatosis diagnosis

In 2014, my wife and I had planned a visit to our daughter, Eimear, who lives in Brisbane, Australia. I decided that a chance to scuba dive at the Great Barrier Reef would be too good an opportunity to pass up. So I applied to get my PADI diving certification. The diving instructor informed me that because of my age (56) and a pre – existing back condition I would require a doctor’s sign off on the training. As part of the medical examination my GP asked the practice nurse to take some blood samples. When the nurse was taking the blood samples she said that she would also get me tested for Haemochromatosis. I had never heard of Haemochromatosis and the nurse was handed a copy of the Irish Haemochromatosis Association (IHA) information leaflet. On reading the information on the leaflet and later on the IHA website it occurred to me that the diagnosis explained the fatigue and also a heart irregularity.

I was a senior manager with a large company and led a busy life full of meetings and deadlines. Over the years, occasionally at meetings, I battled the near overwhelming desire to sleep and on one notable occasion succumbed only to wake and discover that I had agreed to something I had no recollection of!

The blood test results came back and it was confirmed that I had Haemochromatosis with a Ferritin level of 1000.

Once the diagnosis was confirmed an appointment was made for the Venesection Clinic in St James’s Hospital where I met the resident nurse, the marvellous Liz, coincidentally an avid scuba diver. A programme of venesections was set up and my stored iron (Ferritin) levels were restored to a safe level. In addition to the venesection treatment I had my liver function checked and also had my joints scanned, luckily there didn’t seem to be any deterioration.

I do not have to attend the Venesection Clinic as frequently nowadays. I ensure I maintain a healthy diet. Having recently retired, I hill-walk every week and I’m planning another dive in Australia shortly. My energy levels have improved hugely.

I am very conscious that if the GP’s nurse, who sent my blood for the Haemochromatosis test in 2014, had not been made aware of the prevalence of this disorder in the Irish population I would probably have remained undiagnosed. This nurse’s consciousness of the disorder was a direct result of the IHA Awareness Campaign. In gratitude for the work that the IHA does in raising awareness about Haemochromatosis I volunteer when I can for awareness raising campaigns which I find both rewarding and great fun.      

Thanks to John for sharing his very interesting story and for all his help to the IHA.

 

Farming Brothers, John and Michael Fennelly

Farming brothers John and Michael Fennelly, from Co Laois talked to journalist Margaret Hawkins about living with Haemochromatosis.

 

John Fennelly was diagnosed with Haemochromatosis by accident. A stay in hospital in 1998 because of a bad bout of jaundice led to the discovery. “I got jaundice in 1998 when I was about 30, the year I was getting married,” he says. “I was very sick, so I ended up in hospital. Lots of tests were done at that time and one of the blood tests showed that my iron levels were very high and I had Haemochromatosis.”

 

After the jaundice cleared up, John was advised to begin treat­ment. “I had to have a unit of blood taken off once a month initially. I had never donated blood before. It wasn’t a thing I liked at the start, but I got used to it. I know now that it was good that the condition was diagnosed when I was younger because it gets more serious over time, as the iron levels build up in your system and can cause organ dam­age.”

 

John now has a unit of blood taken off once every three or six months, depending on his iron levels. “At the start it meant a half day away from the farm, but now it doesn’t take as long. I get the blood taken off in Portlaoise hos­pital now rather than in Dublin, so that’s a lot handier.” Overall, John is very positive about coping with Haemochromatosis.

 

BROTHER’S DIAGNOSIS

 

Michael Fennelly, John’s brother, is also a farmer. He specialises in breeding Piedmontese cattle and sells the meat direct to customers. He had the test done for Haemochromatosis in 2000 on John’s advice because siblings have a one in four chance of having the inherited condition. “I never had any health issues before that,” Michael says. “My GP referred me to a specialist in Tul­lamore General who found that I had it too.”

 

The treatment, as for his brother John, involved taking blood on a regular basis to bring his ferritin levels down. Like John, Michael had never donated blood prior to being diagnosed and didn’t find it easy initially.  “But within a year they had the levels back under 50, where they needed to be. The process of venesection is now very routine for me.” Michael doesn’t feel that hav­ing Haemochromatosis affects him negatively, but he does notice that he has more energy about a week after blood is taken off.

 

The IHA would like to thank The Farmers Journal for alerting readers to the possibility that they may be suffering from iron overload. Thanks also to Michael Fennelly for participating in the photo shoot to launch the Awareness Day

 

Jarlath’s Story - why early diagnosis of haemochromatosis is crucial

Haemochromatosis is a hereditary iron overload disorder and is more common in Ireland than anywhere in the world.  Jarlath is a member of the Irish Haemochromatosis Association and is very committed to raising awareness of the importance of early diagnosis.

 “When I was about 40, I began to feel tired, lethargic and had low libido. I went to the doctor but as the GP didn’t know the cause of my problems, I stopped attending the surgery.  

As the years went by, things got worse. I was getting headaches, loss of concentration and poor memory. This made it very difficult to do my job and it was very stressful. Every night I went to bed exhausted and woke up just as tired after 8 hours sleep.

Something had to be done about this and I went back again to the GP. I insisted that he did a ‘Wellman” full medical examination. One of the blood tests was Serum Ferritin. My level was 2580ng where it should have been under 300ng. The Transferrin Saturation was 98% instead of 45-50%.  I was referred to a gastroenterologist who organised a genetic test, the results of which confirmed a diagnosis of haemochromatosis.

The treatment for haemochromatosis is to have your blood taken and this is known as venesection. I commenced weekly venesections for nine months until my level was normal. This was a slow process as it was often difficult to get blood from my veins.

I was 57 when I was diagnosed in 2007. I am now 68 and my life has greatly improved. I no longer have headaches or dizziness.

My wife is a carrier for Haemochromatosis which means that she has one mutated gene. We have 3 children, one son doesn’t have Haemochromatosis, our daughter is a carrier, our other son was diagnosed when he was 23. He has twice yearly phlebotomy but because he was diagnosed early he has none of the symptoms that I had.

 This is why I strongly believe that early diagnosis is so important”

 

Colm Kavanagh

Sudden bouts of tiredness, sore joints and dry eyes – these are some of the symptoms of haemochromatosis or iron overload. Margaret Hawkins of the Farmers Journal talks to Colm Kavanagh about his diagnosis.

Colm Kavanagh from Kiltulla, Athenry, is a part-time farmer who was diagnosed with haemochromatosis in 2006. He was 59 at the time.  For years he had been experiencing sudden bouts of tiredness, sore ankles and dry eyes, but put them down to general ageing and computer work.

“The tiredness used to hit me coming in from work or on my way home from work. Many’s the time when I was working in Ballinasloe, 20 miles away, I’d come out and feel so tired that I’d have to pull over to rest he says.”

.​​​​Colm used to think that he had a cold or flu coming on when this sudden fatigue hit.  “I used to say to myself that if I lay down for a while I’d recover. When I’d feel better, I’d say I’d overcome that bout, whatever it was. That happened regularly.”

Joint pain also affected Colm then, because of the illness he didn’t know he had. 

“My ankles would get quite sore for no reason and I couldn’t understand it. It was like someone suddenly hit me with a stick or a hurley. The leg would nearly go from under me when I was playing golf, for example.”

Diagnosis solved mysteries

Colm hadn’t a clue that he had haemochromatosis – a condition once called bronze diabetes because patients, in latter stages, had bronze skin.

“I had worked overseas in jobs where medicals would have been very strict, but nothing was picked up until about ten years ago” he says He regards his diagnosis as “almost accidental”.

“When I was going in for my usual yearly check-up, my GP decided to do the ferritin test along with the routine ones. That’s how it was found out. I didn’t know the haemochromatosis test existed as I had never heard of the condition.

“The test came back positive and I was told it was bad news but I wasn’t too upset when the full story was explained to me. It certainly solved the mystery of the tiredness and more. My level was about 900 at the time so I had to give blood for six or seven weeks to bring the iron levels down”

Removing blood is only treatment

Removing blood is the only method of removing excess iron from the body and is called venesection or phlebotomy therapy. Colm had never donated blood so this was a whole new experience for him.

“I had hepatitis B years ago so I wasn’t able to be a blood donor. I was a bit squeamish for the first few bouts but the staff at the clinic were excellent, so after five or six times I’d built up confidence about the process”

Fatigue lessened – ankle soreness gone

There was no instant change in how he felt but over time the bouts of fatigue lessened. “After a while, I wasn’t getting as tired as often.”  The ankle pain disappeared quickly and his eye dryness problem also diminished.

“My eyes used to be very dry and blood shot and I assumed it was because I was at a computer screen.

The eye issue had been worrying me, especially after I’d gone to the trouble of getting protective screens for the computer yet the problem remained – so hearing that dry eyes was a symptom of haemochromatosis explained a lot. Colm now uses eye gels regularly to solve the problem.

“I used to really suffer on a sunny day as they would stream and sting and I couldn’t open them. They were bloodshot sometimes, too, and I’d look like I’d been drinking. Now that know what’s causing the dryness, I use a special gel which helps a lot”

One in 83 Irish people predisposed

Haemochromatosis or iron overload is one of the most common genetic disorders, particularly in Celtic people. Therefore, when a person is diagnosed, family members should be checked too. Siblings stand at least a one in four chance of being affected.

Colm’s siblings and children were tested for haemochromatosis after his diagnosis, but luckily none of them have the condition.

Lazy or had they haemochromatosis?

Looking back though, Colm suspected that some of his uncles may have had it without knowing.

“A lot of my ancestors died fairly young, mostly of heart attacks. Two grand uncles we used to talk about were reputed to be very lazy and sit by the fire all day, so it’s possible they had haemochromatosis. They died aged 56 and 60.

“Knowing what I have now, they could have had haemochromatosis that was never diagnosed.”

Colm helps out during the Irish Haemochromatosis Association (IHA) Awareness Days each year – in Galway shopping centres and at the National Ploughing Championships. He believes that people should be checked for haemochromatosis routinely.

Get checked for it so you’ll know

“I think people should be checked for iron overload even if they don’t have the symptoms, given that haemochromatosis is so prevalent in Ireland,” he says. “You’d only need it done once to know if you’re positive or negative. Hopefully once you’re found to be negative then that’s it, the test is done and dusted.”

He thinks doctors aren’t really aware enough of the condition and the need for the test yet.

“I know of people who have tested positive but their siblings and children weren’t automatically tested by their GP for it after their diagnosis. Doctors should immediately tell people to get all their family tested because they could have the same thing as it’s an inherited condition.”

 

 

 

 

 

My father and the 'Celtic curse'

By Andrea Smith
Irish Independent 25 August 2018

The rate of hereditary condition haemochromatosis here is shockingly high, but many people don’t understand its severity. Andrea Smith talks to one affected family

IF YOU were to wonder what the 'Celtic curse' is when it comes to health, what might you think it could be? Our inability to tan, which renders us pink and peeling after ten minutes in the sun? Or maybe our penchant for knocking back the drink, which leaves our livers pickled and diseased?

Wrong! The 'Celtic curse' is the name popularly given to the condition haemochromatosis, a genetic disorder where excessive amounts of iron are absorbed from the diet, leading to organ and tissue damage and even death, if left untreated.

It's nicknamed the 'Celtic curse' because, while one-in-400 Europeans has the condition, in Ireland it's one-in-83, and one-in-five of us actually carries the gene.

This shockingly high statistic may come as a surprise to many people, as we Irish are always banging on about being tired because our iron levels are low, and we regularly hear people saying that they are anaemic. But while having too much iron is not as widely discussed, it is actually a very serious condition, affecting an estimated 40,000 Irish people.

While we need iron for growth and development and for providing new red blood cells, our body normally regulates the amount it takes from food with the amount of iron we need daily. However, this system fails in those with haemochromatosis, and they accumulate too much iron.

As their bodies have no way of getting rid of the excess iron, it is then deposited and stored in organs such as the liver, heart and pancreas, in the joints and in the glands that produce hormones. It causes damage to these organs, but as the condition is relatively silent, the effects don't usually show up until sufferers are in their 40s or 50s.

Like many people, Westmeath Rose Shauna Coyne (26) had never heard of the condition until it hit close to home.

"My dad Shaun developed stomach problems about eight years ago, and even though he went to various doctors and specialists, they didn't know what was causing it," says Shauna, who lives just outside Mullingar. "He also used to get quite flushed and red in the face, which is a very common symptom, especially among men. He wondered if he had high blood pressure, but eventually he was diagnosed with haemochromatosis, which none of us knew anything about."

"I had suffered with a loose bowel since I was 17," says Shaun, now aged 55. "It was getting worse, and I thought it might be coeliac disease. I went to Professor John Crowe in Dublin and he suspected I had haemochromatosis."

One he was diagnosed, Shaun had to undergo treatment, which is done simply by phlebotomy, or drawing blood. The number of venesection sessions required varies per person, depending on the severity of the condition, and once the iron has been reduced to a safe level, maintenance involves an average of three or four phlebotomy sessions per year.

In Shaun's case, he had a pint of blood taken every week, and as his ferritin (excess iron) levels decreased, this regimen went down to once a month. He originally had to travel to the Mater Hospital in Dublin for the treatment, which was hugely inconvenient, but now has it done locally in Milltownpass.

"What I noticed in the beginning is that as soon as I had the blood taken, my energy levels increased," he says. "I am hyperactive, and I work seven days per week and sleep very little. I also walk and run so I keep myself fit. Drawing the blood means that the body makes more of it, and that dilutes the iron content it contains."

As the Westmeath Rose, Shauna's duties include a lot of charity work, but the two charities closest to her heart are the Alzheimer's Society and the Irish Haemochromatosis Association. Her grandfather Bob has Alzheimer's, and he and her grandmother Mary live in Ballybunion, Co Kerry, hence Shauna's interest in entering the Rose of Tralee competition.

Once her father was diagnosed, Shauna and her three younger siblings were tested for the illness, as were her dad's brothers and sisters. The test is done by a simple blood test known as a serum iron profile, and if that is suggestive of iron overload, a liver biopsy is done to assess iron levels and check whether any damage has occurred.

"The results showed that I don't have haemochromatosis, nor do my brothers and sister," she says. "We also don't carry the gene, which is a relief. My dad is one of nine, and two of his brothers were also found to have it. The problem is that the symptoms can be very vague, such as fatigue and itchy or prickly skin, so that makes it hard to diagnose at first.

"It's really important that more people are aware of it, as if left undiagnosed, it can damage your organs and have serious long-term consequences."

Haemochromatosis is a hereditary illness, and both parents must carry a defective gene in order to pass it on to their child. Even at that, the child won't necessarily develop the condition.

Various well known people have been diagnosed with it, including writer Ernest Hemingway; the late Brian Lenihan, Snr; Eurovision-winning singer-songwriter Paul Harrington; food critic Tom Doorley; All-Ireland winning Gaelic footballer for Meath, David Beggy; former senator and president of the Irish Human Rights Commission, Maurice Manning; and author Danny Morrison.

Luckily Shauna works with her dad, so she can also keep a beady eye on his health. Having obtained a business degree, she works in the family business, SkyClad Ltd, which produces all types of cladding and ancillary products, as well as affordable housing and granny flats made from steel-frame modular structures. She is also currently studying law part-time at Griffith College in Dublin. If that wasn't enough, she is obviously very busy these days with her Rose duties.

"My dad is managing director, and I'm chief operating officer, so he's my dad first and boss second," she says. "We're very alike in ways, and he does the talking while I'm the eyes and ears. We do clash occasionally, but luckily neither of us is the type to hold a grudge! Dad has to avoid very iron-rich things like cabbage or Guinness, but apart from that he's grand, and it was lucky that he was diagnosed early enough. He is very busy and travels abroad a lot, so he needs to be fit and healthy."

'Having this condition doesn't mean that you can't enjoy a steak at times, as everyone I know with it still eats a normal diet," her dad points out. "If you were to have your blood taken once or twice extra per year because you enjoyed your steak, so what!"

Interestingly, men tend to be more seriously affected by the condition, due to the fact that women menstruate and give birth, so naturally lose blood along the way. Happily, patients can expect to have a normal life expectancy once treated.

From an early age, we are encouraged to eat our greens, but unlike the rest of us, people who have been diagnosed with haemochromatosis are advised to avoid a very iron-rich diet, including bread or cereals with fortified iron and multivitamins containing the mineral. Alcohol and tobacco smoke both speed up the intake of iron in the body, and should also be avoided.

Sadly, if left undiagnosed and untreated, the illness can have fatal consequences. The late actor Steve McQueen's daughter Terry died at age 38 from it in 1998, four months after undergoing a liver transplant. And closer to home, retired Dublin teacher and chairperson of the IHA, Margaret Mullett, lost her husband George to the condition in 2000.

George, a consultant psychiatrist at St James's Hospital, had been feeling tired and his heartbeat was very irregular, and a doctor friend suggested he might have haemochromatosis. Tests showed that he indeed had the condition, but he died of heart failure within a few weeks, as his heart had been damaged by the iron stored in it. He was only 63.

Further tests revealed that Margaret was a carrier, and all five of her grown-up children had the genes. They immediately began treatment and thankfully are all fine, because they were diagnosed in time to prevent damage.

"Losing George was a desperate shock and I miss him a lot," she says. "The thing is that the children might never have known they had the condition otherwise, so their dad probably saved their lives."

Right now, the main aim of the Irish Haemochromatosis Association is to raise awareness of the condition. The association held a national awareness day last week to educate people about the complex condition and its relatively straightforward cure.

Both Shaun and Shauna actively work to promote awareness of the 'Celtic curse', and feel that they are lucky that their family's experience with it has been a good one.

Shauna is happy to have volunteered with the association as an ambassador in recent years, as she believes that increased knowledge of the illness is the key to lessening the devastating impact it can have if left untreated.

"Ah, Shauna would be fond of her daddy and would probably want to keep him alive for as long as she can," laughs Shaun, fondly, smiling at his beautiful Rose. "I'm very proud of her."

For further information, please contact the Irish Haemochromatosis Association on 01 8735911, or visit www.haemochromatosis-ir.com.

Michelle O’ Donnell who is from Belfast is an occupational therapist in St James’s Hospital.  She was tested for Haemochromatosis after her sister who suffered with chronic fatigue tested positive. Michelle had never heard of HH and initially did not take it very seriously. She just thought ‘excess iron’, fine, and was completely unaware of the condition. However, when her  genetic test results came back she also tested positive as did her two  other siblings. Both parents were then tested and were positive which meant that all 6 family members had two copies of the HFE gene.

Michelle’s mother had been suffering from chronic fatigue for 30 years, palpitations in more recent years and arthritis in her joints.  Michelle’s father was diagnosed with diabetes. 

Apart from an aching finger Michelle has had no symptoms. After 9 venesections the pain is gone.  Because of what she says is a lack of awareness in Northern Ireland amongst GP’s, Michelle sends up leaflets from the IHA. Michelle stressed the importance of awareness in both the public and the medical profession. 

 

Maurice Manning

 
Irish TImes 6/2/2015


'I feel extraordinarily lucky to have been diagnosed with haemochromatosis when I was’

My Health Experience: Former politician and academic Maurice Manning speaks about his experience of haemochromatosis.

"I was diagnosed with type 2 diabetes more than 10 years ago and a test for haemochromatosis was one of the initial tests that the GP carried out. It showed up quickly that I had seriously high ferritin levels. [Ferritin is a protein that stores iron in the body cells for use at a later stage. It is one of the tests used to confirm a diagnosis of haemochromatosis.]

I was not in good health at the time. I had joint pains, I was cranky, tired and generally out of sorts. I realised that if I hadn’t been diagnosed with haemochromatosis at that time, I’d be a dead man now.

I immediately began an aggressive treatment programme for the condition. In fact, I had over 40 phlebotomies – which are a form of prescribed blood donation – to lower the amount of iron in my body. It took almost weekly visits to the hospital over three years to bring the levels of iron in my blood under control. I went in for the phlebotomies at about 7.30am before I went into work.

You do feel a little debilitated after a phlebotomy and I experienced bouts of tiredness but it was a fantastic
moment when the haemochromatosis was under control. That was in 2003 and since then, I have only to go two
or three times a year for a phlebotomy to keep the condition under control. After each treatment, I sit and rest for
a while.

I feel extraordinarily lucky to have been diagnosed when I was. Because, once you’ve had a diagnosis of haemochromatosis, the treatment is straightforward. My liver was damaged somewhat but it seems to be okay now. The problem is that many GPs still don’t seem to consider testing for haemochromatosis early enough and
people can become very ill and even die from complications of the condition if not diagnosed early enough.

Haemochromatosis is a genetic condition. I am the eldest of 10 and my sister has been diagnosed with it too. My son will get tested for it in due course. Some people are fearful of being tested because there is a potential extra loading on health and life insurances.

This is unreasonable, in my view. In fact, I chaired a Department of Health and Children working group on haemochromatosis (2006) which recommended that younger members in particular who are in treatment and have no significant health risks should not be unfairly loaded when seeking insurance cover. [Since that time, most life assurance companies understand haemochromatosis better and don’t load policies of those whose condition is under control and without complications.]

The Irish Haemochromatosis Association, which I am involved with, does its best to put leaflets on the condition in GP surgeries and pharmacies but we’d like to see a greater effort made by the HSE to publicise the condition.

In my case, the diagnosis of haemochromatosis has meant that I have averted serious liver disease and possible heart failure. I have also averted a catastrophic decline in my quality of life. In fact, I’ve a lot more energy now than during that period of time when I was diagnosed and treated – even though I’m 10 years older."

Maurice is Chancellor of the National University of Ireland

Photograph: Dara Mac Dónaill

story of how I found out!

Mike

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