The traditional form of hemochromatosis is an iron overload disease; the body absorbs too much iron, stores it in the pancreas, liver and heart. It can cause these organs to fail if it is not discovered early enough. If left unchecked hemochromatosis can damage the heart muscle. Too much iron can be too much of […]
Enjoying the crack is something that comes natural to us Irish, even if we’ve had to alter the spelling to the Gaelic version, craic, so it’s not mistaken for an illegal cocaine derivative. Unfortunately, after a life time of craic , I’ve turned in to a crock, thanks to this Celtic curse, haemochromatosis.
One of the biggest problems with haemochromatosis diagnosis is it’s hard to spot and is often treated for its symptoms and not for the condition itself. These days people are becoming more and more aware of HC, particularly doctors, so its indicators are more frequently screened than ever before.
Sixteen years ago, after complaining about pains in my fingers for at least three years, I found the clue that alerted me to whether my problems stemmed from an overload of iron in my blood. Typically, I assigned the finger pains to the rigours of tapping on typewriters, daily, rushing to beat deadlines. Although I’d been using laptops for years, by then, my early day typewriter training came from hammering on a monstrous, non-electric newsroom typewriter, usually with just two fingers, the index fingers of my left and right hands.
Professor John Crowe, a distinguished gastroenterologist and then Master of the Mater hospital in Dublin, presented a paper to a medical conference in Dublin that highlighted the prevalence of this dietary iron disorder among Irish people and people of a Celtic origin. It was covered by a Dublin newspaper and in that report there was a simple list of the main indicators for hereditary haemochromatisis. Once I read arthritic pain in the left index finger and an unseasonal tanned look, he had me. I contacted my doctor who did a quick blood test, for serum ferritin, I found out, later.
Now my fingers were sore but the tanned look? Well, y’see I’d always tanned up deepy and quickly, come the summer and always had a complexion that, throughout my life, has had people wonder where I’m from because the typical Irish complexion is not so much white as ‘transparent.’ While I remember, as a child in short trousers in primary school being referred to, by other mothers, in the totally pre-PC days of the early ’60s, as ‘the wee darky.’
So the test results came back and the diagnosis confirmed and before I knew it, blood was being drained out of me by the half litre on a weekly basis.
The unfortunate thing for me, though, was the horse had long bolted from the barn. Within two years of that diagnosis, along with the diabetes that first manifested itself eight years before that, I began to experience serious problems while walking. It began with a dull ache getting out of bed. Within a year, running was out of the question and walking had become an assault course strategem.
You only realise how much you take simple physical activity for granted, when those simple acts become painful manoeuvres. Descending a stairs became almost as painful and perilous as climbing one. If there were steps to be climbed, I’d have to think out my route in detail and in advance so I could minimise the most challenging obstacles. I remember being so thankful when footpaths became wheelchair friendly. Crossing a street became something I had to plan, very carefully, particularly since lifting my leg high enough to negotiate a step became as calculated as an Olympic high jump attempt.
Pretty soon, I was being lined up for my first hip replacement as osteoarthritis was the cause of my motor difficulties.
Was I surprised? Yes, since I’ve always been an active person and loved walking and cycling, I was, as we say in Ireland, on a prolonged Egyptian holiday: I was in denial. For two years before I was told I needed a hip replacement, I visited chiropractors, physiotherapists and osteopaths. Then, after the diagnosis and a date was set for the operation, I refused to let it get in the way of a holiday trip I’d planned with a friend, to travel to the south of Spain, by motorbike.
Now the prospect of throwing my leg over a pushbike had already become an exercise that might entertain the Marquis de Sade, so getting my leg over a 1200 cc Harley Davidson Centennial for a marathon road trip, well, that was my tribute to the notion of mind over matter.
The first thing I did was visit an osteopath in Tipperary who, I was told, performed miracles with injured professional jockeys. All I wanted was to maintain as much flexibility as I would need to help me make the trip. It didn’t quite work out that way. Getting on and off the bike turned in to a nightmare. We had to make stops along the way at intervals of 50km or so. This lengthened the journey. Happily, for my good friend and long suffering travel companion, Dave and myself, the trip, itself was great fun and, despite the pain, an amazing elixir.
There are ludicrously memorable moments like the time we both pulled in to a motorway garage, all leathered up and ruddy faced, on this behemoth motorbike and Dave alighted, ignoring me, to fetch himself a drink. Then I started the process of alighting that involved, first, standing up, before easing my leg over the bike then sliding to the ground, crawling to the footpath and gently, crab style, working my way up to a standing position, to the bemusement of some watching locals. That happened more than once and soon we were taking a delight in the whole spectacle.
When I got back to Dublin, ten days later, I was ready for the operation. Within three weeks I was back on my feet and the absence of pain, the ease of movement was phenomenal. Two years later I was back in hospital for another hip operation. More recently, I’ve begun to experience ankle arthritis and, once more, mobility comes with a huge pain bill. These days they can replace hips, knees and even ankles but ankle replacement for me is out of the question, I’m not old enough and anyway, I have diabetes; there’s too great a risk of infection.
Since prevention is not a possibility until there are advances in stem cell research, so early detection and treatment is the best way forward. But that’s a story for another blog.
When I was 38 and working every daylight hour and more to pay a mortgage on my first house, as well as feed and educate a young family, I got ill, something I could (pardon the pun) ill afford to do.
My weight was fluctuating, almost weekly. I was always thirsty, all the time and had taken to carrying a bottle of water around with me, long before it became a fashion accessory.
So I was visiting our family doctor, not for myself, but for my four year old daughter who needed a check up and a prescription for her asthma. While I was there, I mentioned my fluctuating weight and thirstiness to the doctor and he handed me a plastic cup and a litmus strip and asked for a urine sample. “You could pee on the strip, too,” he told me.
I did as he asked and he looked at the strip and frowned. I found out later the strip tested my urine for ketogenesis, a condition that, along with the other symptoms, might indicate some liver disorder and raise alarm bells and suspicions. He asked me to wait, a moment, in the reception area, while he made a quick call. Two minutes later he asked me to go home, pack a small bag and then go to the local hospital where I would undergo some tests.
If my urine had set off alarms, his urgency raised me to DefCon One. So I asked him to explain himself and he told me, ‘I think you have diabetes and I want to make sure.” So would I be in hospital, overnight? I asked. “No,”he said, “this will take a week.”
And why the urgency, I asked, is this life threatening or something? I asked, surprised by his haste and a little bit put out by the inconvenience it might cause me. “Yes, it is,” he told me, “particularly because of your age. It is very rare of someone of your age to manifest diabetes like this. You’re not overweight, even if your weight has been fluctuating and you’re fit enough.”
Later that week, when the first test results indicated I had type 1 or insulin dependent diabetes. There is a 7 in 100,000 chance of late onslaught type 1 diabetes in adults between the ages of 30 and 50.
This was discovered after a battery of tests that included blood and more urine tests and a liver biopsy. The rest of ther week was spent in nutrition training and gym sessions where I was put through a diabetes boot camp and the message was drilled home: no sugars or fats, lots of fibre and complex carbohydrates and planty of regular exercise. They gave me an orange and a hypodermic syringe full of water so I could practice injecting. Then they taught me to inject myself.
By the end of that week in hospital, my sugar levels were back to normal and so began a life of daily self medication. And this is where it gets really weird. It took another six years for the diagnosis of my haemochromatosis and the discovery that this had caused my diabetes.
Now, it appears, my diabetes can not be classed as type 1 or type 2, but a class of diabetes that can only be associated with haemochromatosis, somewhere between the two but because of my original diagnosis, I’ve had to maintain my administration of insulin.
So why, you might ask, was it not diagnosed the first time, the haemochromatosis not noticed and diagnosed, saving me a measure of future grief? Well, haemochromatosis symptoms often don’t manifest themselves until people are in their middle years or, at least, over 40.
But you got diabetes when you were 38 and that set off alarm bells? Yes, that’s true but many tests were done, particularly a liver biopsy, that showed no abnormalities in my liver function. What wasn’t done, though, because of the liver biopsy results, was a ferritin test. These days, this has changed and anyone manifesting diabetes, over 30 years of age, will automatically be given a ferritin test.
At the time, I thought, hey’ of all the long term conditions I could develop, diabetes isn’t the worst. Apart from the incovenience of constantly testing the sugar level in your blood and injecting yourself with insulin, a properly controlled diabetic lifestyle can be quite healthy, if you eat good and exercise, regularly.
Although, sometimes, even those can be inconvenient but, well, that’s a story for another blog.
Imagine my surprise, having, first, been told I have a genetic blood disorder, to learn the only way it can be treated is by bloodletting, a medical practice that’s been in use for more than 3,000 years, all the way back to Ancient Egypt.
These days, they call it phlebotomy and it’s not performed by barbers or dark alley quacks, but by specialist medical practitioners under hygienic conditions, in modern hospitals. Well, for the most part, anyway.
In modern medicine, it is used in the treatment of polycythemia (excess of red blood cells), as well as haemochromatosis (iron overload).
Bloodletting is one of the oldest medicinal practices and was practiced by Egyptians, Mayans, Incas and ancient Greeks. It was used to treat a variety of conditions, based on the belief the human body was made up of ‘humours’; blood, phlegm black and yellow bile.
Depending upon the condition, measured often by the manifestation of these humours, a physician would decide where the incisions were made to drain blood and, ultimately, to draw the humours of the body into balance. In the Middle Ages, the task fell to the local barber, hence a barber’s pole, the swirling red and white, which represented the tourniquet, the blood and the rod gripped by the patient, during the treatment.
US President George Washington was among bloodletting’s many victims. He had 3.75 litres of blood taken from him over a ten hour period. He had a throat infection. In the 19th century, although bloodletting remained popular, particular with the use of leeches, its effectiveness was increasingly in question, particularly as more people were dying from its use than were recovering.
For people with an iron overload, however, bloodletting, venesection or phlebotomy is a good thing. As red blood corpuscles carry and distribute iron around the body, then removing blood can reduce the level of iron, too. The trick is to remove it faster than the body can replace it – an inexact science dependent on a whole bunch of factors – and that dilution will result in a reduction of the ferritin level in the body.
So two or three times a year, I have my blood tested for a ferritin count and if it goes beyond 150 then I must return for treatment, a weekly visit to a phlebotomy clinic where about 400ml/l of blood is taken from my blood, then I’m given a cup of tea or coffee and sent home.
Sinead O’Connor saved my life. Yes, that Sinead O’Connor. We were close friends and lovers at the time. She was dropping her daughter off at school and stopped at a shop to pick up a copy of the Irish Times, on her way home.
There was an article on the front page about a medical conference happening in Dublin and how the keynote speaker, Professor John Crowe, had read a paper about a blood disorder that came close to wiping out the Celtic race, a millennium before.
She read on and began to realise the symptoms of this disorder were manifested by her boyfriend: arthritic pains in my fingers, particularly the left index; bouts of fatigue and diabetes. So she called me and I called my doctor. I explained to her what Sinead told me. My doctor asked me to come in.
There’s too much iron in my blood. It’s called hereditary haemochromatosis and it’s caused by a faulty gene. The body absorbs too much iron from the diet and then it deposits in the liver and other organs, particularly the pancreas. It also deposits itself in the joints.
Globally, one person in twelve has a chance of having that faulty gene but if you’re Irish, you have one chance in six. That’s why it’s called the Celtic Curse. It has other names, like Bronze Diabetes or Blood Rust.
Twenty five years ago, I was diagnosed with Type 1 diabetes. Ten years later, I began to experience pain in my joints, particularly the index finger of my left hand. As a journalist, who had to meet numerous daily deadlines, that was painful. Think, while you’re typing, how many times your index finger hits the keyboard.
Back then, I was experiencing frequent bouts of fatigue which, considering my work schedule, didn’t surprise but it did frustrate me.
My doctor performed, what I now know as, a ferritin blood test and, since she worked, as a sideline, in the blood testing laboratory of a local hospital, asked me to come back the following day for the result.
As suspected, my blood showed an inordinately high level of iron. It read 1450 units, she told me and what, I asked, is the normal level of iron? Anywhere between 15 and 50, she answered. An appointment was made with an endocrinologist and two days later, I began my first treatment for haemochromotosis.
Since then I’ve got two artificial hips and no, they don’t cause panic in airport metal detectors because they’re made of a chromium alloy, which doesn’t set off alarms. That said, whenever I travel, I carry a letter from the surgeon who performed the arthroplasty (hip replacement), because it is better to be sure, than sorry.
But that’s for another blog…