Falling asleep at will (Haemochromatosis)

Member Name: eilidhcatriona

Product:	Haemochromatosis
Date:	27/10/09 (83 review reads)
Rating:

Advantages: The hospital gave me chocolate cake!

Disadvantages: Fatigue, the treatment,everything about this condition

I've been considering writing this review for some time now, weighing the benefits against the drawbacks. I want to raise awareness of the condition haemochromatosis, but on the other hand it's a difficult thing to write publicly about a condition which you suffer from, as it's a very personal experience and perhaps not something you want to share. However, I've decided that the benefits are worthwhile, as this is a condition a lot of people may not be aware of, and it can be serious.

The easiest definition of haemochromatosis is that it is an iron overload disorder. The body is unable to get rid of iron as it should, which results in a build up of iron in the blood and around the organs. It is also known as genetic haemochromatosis, or GH, as it is inherited from defective genes from both parents.

The genetics are something which is has taken me some time to get my head round - I've never been scientifically minded. The gene in question with haemochromatosis is the HFE gene. Haemochromatosis is a recessive disorder, which means that a person must have two copies of the defective HFE gene, one from both parents. If a person has only one copy of the defective gene, they will be a carrier but not at risk from haemochromatosis. Both parents must be at least carriers, if not even sufferers, for a child to develop haemochromatosis, as two copies of the defective gene are required.

There are a few different combinations of parents genes which can lead to haemochromatosis, as detailed below (information from the Haemochromatosis Society):

1. If both parents are carriers (most common - about 10% of the population are carriers, so 1% of marriages will be between carriers). On average a quarter of the children will develop GH, half will be carriers, and a quarter will be normal.

2. If one parent has GH and the other is a carrier (about 1 in 2000 marriages), on average half the children will develop GH, the other half will be carriers.

3. If both parents suffer from GH, (a rare event, occurring in about 1 in 100,000 marriages) all the children will inherit two defective genes, and will have GH.

The main test for haemochromatosis is a gene test, which identifies if a person has the defective gene. Most likely this will follow blood tests which reveal high levels of iron - for transferrin saturation, which indicates the accumulation of iron in the body, and serum ferritin, which indicates the amount of iron stored in the body.

The most common symptom of haemochromatosis is chronic fatigue, weakness or lethargy. There may also be abdominal pain, arthritis (usually in the hands), liver disorders, diabetes, cardiomyopathy and bronzing of the skin. Haemochromatosis can also lead to numerous other conditions, including pancreatic conditions and osteoporosis.

Treatment is simple yet somewhat medieval - blood letting, or to give it the modern medical term, venesection. The removal of blood from the body, usually 500ml at a time, causes the body to use some of its stored iron to make new red blood cells, therefore reducing the level of iron stored. This treatment should reduce some of the symptoms, such as fatigue, cardiomyopathy and bronzing, but will not affect diabetes and other symptoms. It is carried out like blood donation, although sadly they cannot donate the blood or even use it for research.

The regularity of treatment depends on the level of iron stored. Often at the time of diagnosis a person will need weekly venesection until the iron level is brought to a manageable level, and even after that they will require up to 4 treatments per year. If there is not a huge iron overload at the time of diagnosis, there is no reason that haemochromatosis should affect life expectancy.

The body absorbs iron from food, and so those with haemochromatosis need to watch what they eat. The main culprit is red meat, something I don't need to worry about as a vegetarian. Alcohol intake also needs to be watched, but as I'm not a big drinker I don't think about this much - the amount I drink won't lead to problems so I try not to restrict myself too much, unless I have an attack of conscience. Another thing to avoid is vitamin C - this aids iron absorption in the body, which is obviously not desirable when you already have too much iron.

I was diagnosed with haemochromatosis in March 2009, at the age of 25. I had been suffering from extreme tiredness, and having decided this was not related to another condition, my GP decided some blood tests were in order. The results showed I had high iron, so I was packed off to the local haematology clinic. It took three visits here, and three lots of tests before they diagnosed me.

Diagnosis of haemochromatosis tends to be later in life, usually from the forties onwards, so I have been exceptionally lucky to find out this young. The Haemochromatosis Society gives the ages of diagnosis as being from 26 to over 70, so I've lowered that! Because of this, the level of iron stored in my body was not too high, as it had less time to accumulate, so I didn't need the weekly venesection. I did, however, need one venesection at the time of diagnosis, and I've had another since.

The first time was very nerve wracking. I gave blood a few times years ago, but it was a while back, I'd forgotton what it was like, and of course with venesection there's the added pressure of knowing that this is for a chronic condition I'll have to live with for the rest of my life. The blood was removed with no problems in the day ward at Hammersmith Hospital, but just as the nurse was about to remove the large and painful needle, I promptly passed out. I spent the next hour or so lying on a hospital bed having fluids pumped into my arm, which was loads of fun, then I was sent home with a huge bandage round my elbow. I found it a painful and uncomfortable experience, for reasons which were explained to me at my second venesection, at the end of August.

I went along feeling more confident, and knowing what to expect. I had eaten a large lunch and drunk gallons of water, to try to stop myself passing out. The nurse had problems finding a vein, and then explained to me that I have exceptionally small veins, hence the pain I had felt last time. Anyway, she finally got a vein, but 45 minutes later only 200ml had come out, and it had hurt all the way through, particularly if there was any movement whatsoever of the needle - it should only have taken around 20 minutes to get the full 500ml. All the nurses came to have a look at me, then decided to move the needle to my other arm. The first nurse passed it onto another, as she didn't want to watch me squirm in pain again as she put the needle in.

Nurse number 2 got the remaining 300ml out in about 10 minutes, and then I promptly fainted again. They left the needle in while they searched for a doctor to authorise fluids for me, and nurse number 2 felt so bad she brought me some sweet tea and a huge slice of chocolate cake from the café! I was too groggy to hold it but I eyed it on my table from my bed. Eventually they got found a doctor and started me on fluids. Again, it was painful and uncomfortable, but after 10 minutes of the pain building I had to call a nurse over as I couldn't bear it - it turned out the needle had fallen out of my ridiculously small vein and was merrily pouring fluid into my muscle (or lack thereof, but that's irrelevant). Wonderful. They moved the needle, and the rest of the fluid went in with no more drama, while I tried to eat my chocolate cake left-handed and with a sore arm. This time I was sent home with a huge bandage on each arm, leading to problems raising a glass or fork to my mouth.

I find that venesection does indeed alleviate my fatigue, but only for a short period of time, up to three weeks. The fatigue comes back gradually, and even now, late October two months after my last venesection, it is not as bad as it was prior to treatment. That said, it can come back with a vengeance for short spells. I had the treatment at the end of August and for the first two weeks of September I felt great, then at work my fellow admin colleague went off to get married (how dare she!), so I was doing two jobs on top of all hell happening to break loose with one client. By the time I went on holiday at the end of September I was in need of a break, and since coming back my fatigue hasn't been so bad again.

Despite not having a high iron build up, my symptoms were, and still are, quite severe for the level of iron I have - but the doctors treat me based on blood test results, not symptoms. This chronic fatigue sometimes manifests itself in the ability to fall asleep at the drop of a hat, but more often than not it's lethargy, and the struggle to do anything or move about. My mind will be awake in the morning, but some days it's hard to get my body to obey the need to get up and go to work. At work I just want to sit at my desk and not move. The kitchen (and therefore tea) is at the opposite end of the building, and sometimes it takes a desperate need for tea to get me to move. But this isn't the same every day - some days I feel pretty good. Over the last few months I have started working one day a week from home (unless I have to be in the office), as most weeks I'm really struggling to get to the end of Friday if I have to be in the office every day.

Saying all that, I do my best not to let this fatigue get in the way of my life. Even when I just can't be bothered, I force myself out to play tennis twice a week - and once I'm there and going, it's fine, it's just the getting there that's tricky. I try not to tell myself "I can't be bothered" about something I want to do, because I don't want this tiredness to rule my life. Some days I make myself run for the bus, just because I want to carry on normally. Haemochromatosis does not define me, it's just something I have to deal with.

Haemochromatosis is something that I'm going to have to live with for the rest of my life, but I know that despite that I'm lucky - there are many worse off than me, even other haemochromatosis sufferers, as I've been diagnosed so young. It's still hard to deal with sometimes, particularly when I'm feeling low, but I tell myself it is manageable and doesn't need to affect my life.



The Haemochromatosis Society is an invaluable resource. Membership is £10 per year, which gives you a brilliant handbook, newsletters, regional meetings and puts you in contact with fellow sufferers. www.haemochromatosis.org.uk

Summary: A chronic condition but it doesn't have to rule your life