Genetic haemochromatosis: a patient's story

Suzy and Graham Makin live in Manchester. In 2013 Graham was diagnosed with genetic haemochromatosis and this is their story, as told by Suzy.

"Haemochroma...... what?" we asked the doctor, stunned and frightened.

The specialist explained that haemochromatosis is a genetic condition which causes the body to absorb too much iron. He explained that as my husband Graham was diagnosed early with a ferritin level of 880 he would have no ill effects and live a perfectly normal life. This was a huge relief to us both. He discussed the treatment and said that he'd see Graham back in FOUR YEARS!

We were extremely lucky that Graham was diagnosed early. In fact, he was diagnosed by mistake really. He'd been having a lot of numbness in his hands and undergoing all sorts of tests for this. Our GP noticed that his ferritin levels were raised and monitored it over several months. Finally, she sent him for a genetic test which confirmed the haemochromatosis. We still don't know what's causing his numbness but the doctors don't feel it's related.

Hindsight is a wonderful thing of course; Graham had also been feeling very tired over the previous couple of years. In fact we had discussed this with a local pharmacist who advised trying multivitamins (with iron), tonics and so on. That was when I had unknowingly begun to poison my husband - iron is toxic to patients with this condition and the added Vitamin C greatly exacerbates things by increasing the rate of iron absorption.

Once properly diagnosed, Graham began his weekly venesections in the endoscopy department of our local hospital. He found this extremely stressful as he is needle phobic, has veins which are extremely difficult to find, and he was trying to fit all these appointments around his job. It was a difficult time for us both but the nurse consultant took charge of Graham's venesections and things then became easier.

Graham was in shock when he was first diagnosed and didn't want anyone to know, although he understood that close family would have to be informed at some point. He wanted time to let it sink in and to work out how to tell his family. Looking for advice, guidance and reassurance, we took to social media making a plea on The Haemochromatosis Society's Facebook page. Suddenly the phone was like a hotline, with calls coming from friends and family here and abroad asking after Graham's health. My post had appeared on my friends and families' pages. I had inadvertently informed our entire family with one press of a key!

That was the start of our relationship with The Haemochromatosis Society and other groups. There's always someone available willing to share their experience and knowledge, there's a wealth of medical knowledge on the website and the regional group hold regular meetings where they invite guest speakers who are always informative and interesting.

We are both grateful to the society for all the help and support they've given us and also to our GP for the diagnosis. Because of this we are both working to raise awareness with pharmacists where we live in Manchester; advising them of the dangers of recommending supplements that include iron and vitamin C. We have had a very positive reception from all of the professionals we have spoken to.

Sadly, genetic haemochromatosis is not always diagnosed as early as it was in Graham's case. Often, accumulated iron may already have damaged the joints and organs, sometimes very seriously. Early symptoms often include fatigue, joint pain and sexual health problems. Later complications can include liver disease, severe arthritis, heart problems, depression, impotence, and much more.

The liver is particularly affected by iron absorption. Haemochromatosis can lead to cirrhosis, hepatoma (liver cancer) and the need for transplant. There is no doubt that suffering and early death could be avoided by earlier diagnosis.

Graham is now "in maintenance", which means he has venesections every few months as and when his levels of iron rise. He still gets tired, and has a few minor problems which may or may not be related, but thanks to our GP, The Haemochromatosis Society (and similar groups) he's in a better place than many others.


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