Putting haemochromatosis in the spotlight

FRENCH television and newspapers have been raising awareness of haemochromatosis, a genetic disorder that sees people absorb excessive amounts of iron from their diet.

The week long campaign aims to help people recognise the symptoms and get a check-up if necessary, as it is estimated that around 200,000 people in France are affected by the illness.

Here Helen Aurelius-Haddock, who lives in the Poitou-Charentes, writes about her experience of being diagnosed, some of the difficulties now being faced, but also the support network that has developed, especially on the internet:

"I am 52 years old, and I was diagnosed with type 1 haemochromatosis in January 2009. During the late summer of 2008 I visited the doctor with abdominal pains, along with palpitations and joint pain.

I was sent for a scan, which showed no major problems and my blood tests indicated that I had raised ferritin levels. I also discovered that I had raised blood pressure.

My cardiac tests indicated that there was no cause for alarm, other than I was suffering from a potassium deficiency, which was the likely cause of my palpitations.

My doctor prescribed some medication for the high blood pressure, suggested that I reduce my alcohol intake and cut down on red meat and sent me on my way.

He offered no explanation for the abdominal pain which was my main cause for concern, and, as I was neither a drinker or large consumer of red meat, I felt overall dissatisfied with his diagnosis.

As I live in France, the health system allows you to visit any GP, and I decided to get a second opinion with another doctor. I was very glad I did.

I then underwent several months of monitoring my ferritin levels and transferretin saturation. As these all continued to be raised well above the norm I was referred to the local hospital to see a haematologist.

He immediately suggested a gene test for haemochromatosis, and I waited for the results.

I felt very confused as I had spent some considerable time reading about the disease on the internet, but had made the false assumption that as no one in my family had the disease, I could not possibly have it either. How wrong I was.

Further reading led me to understand how the disease often remains undiagnosed in people who suffer associated medical conditions such as heart disease and diabetes.

I also learned that the genetic test was only developed in the mid 1990s which since that point has acted as a definitive bench mark for haemochromatosis.

It may well have been the case that my grandparents or father, all of whom are dead, might have suffered from the disease, but in them it remained undiagnosed.

My grandparents on both sides all had heart conditions, and my paternal grandfather developed Parkinsons Disease.

The results seemed to take forever to arrive, and in January 2009, they eventually came, confirming that I had type 1 haemochromatosis.

It would be an understatement to say I was shocked, and it took a long time for the news to sink in. However, I was quickly referred to a heptologist and was booked in for an MRI scan, which would show the level of iron accumulated in my liver.

The results showed that while there were deposits of iron in my liver, they were not so high as to cause a danger to such a vital organ of the body.

I was subsequently booked in to have my first phlebotomy at the local day hospital. Apart from a degree on anticipation on my part, it all went very smoothly and the nursing staff were superb.

My ferretin levels were closely monitored during this initial treatment period, and I was obliged to go for treatment every two weeks.

It was extremely tiring, and at one point I became anaemic so the treatment was halted until the situation righted itself.

I stopped work for a short period due feeling under the weather, and my employer was very supportive.

I now follow a maintenance programme, where I have a monthly blood test to gauge the level of ferritin in my blood. If it is raised, I am contacted by the local hospital to go in for treatment until the level returns to normal.

Overall, I feel that my experience has been a positive one. Apart from the surprised looks from people when I told them I had haemochromatosis, and then attempting to explain what it was, my family and those in the medical profession have provided me with an excellent support network.

The condition has been fully explained to me as far as it is understood. Unfortunately, my joint pain has continued, and I have been advised that I will need some joint replacement in the future.

This does present daily difficulties and I most certainly have 'good' and 'bad' days when my joint pain prevents me from doing what I want.

I have learned that on the bad days, it is best to put my feet up and try and rest until the pain eases.

If I am honest it is very hard to remain positive sometimes, but I find that even though I am more restricted than I was before my diagnosis, I remain upbeat throughout it all, and am thankful that the treatment has had a retarding effect on preventing organ damage and further complications.

I try and keep up with the latest research on the internet and find that more is being discovered about haemochromatosis, which in time will lead to a better quality of life for those who suffer from it.

To this end, I have started to raise funds for the Haemochromatosis Society, finding that it provides me with a focus on the disease which is very fulfilling.

I have held a virtual book sale, by selling cookbooks that I review online, and am in the middle of organising a coffee morning and a cake sale.

I also have a friend here in France who is an Elvis tribute artist, so I hope to persuade him to do a concert in our village hall in the autumn for the society.

After all, there is nothing like a bit of Rock n' Roll to take your minds off things!"

Websites:
Haemochromatosis Society and on Facebook
l'Association Nationale Hemochromatose France and on Facebook again.