Understanding what I face allows me to have the healthiest future I can, explains Katharine Hough

I was in my second year at university when I began to faint frequently. My hair was falling out, I was constantly tired and I didn’t feel like myself. My mum thought that these rather general symptoms were down to my university lifestyle. When they persisted, I went to my GP who tested my blood, including my iron levels. The results came back high for iron a second time, so my GP tested for the genetic haemochromatosis gene. The gene test came back positive so I was referred to a consultant.

Haemochromatosis is a genetic inherited condition, yet my family were unaware that they carried this genetic problem, and had never even heard of it until I was diagnosed eight years ago. My diagnosis was very quick as my GP knew about it and recognised the symptoms; most people aren’t so lucky.

Haemochromatosis is one of the most common (yet relatively unknown) genetic conditions where the body absorbs too much iron. This iron is then deposited in different parts of the body such as the joints, heart, liver and pancreas. This can lead to different symptoms and conditions such as arthritis, joint pain, fatigue, stomach problems, skin problems, liver problems and many more.

The generic symptoms could apply to so many conditions or diseases and too few doctors check for iron levels and stored iron. Many people with haemochromatosis search for several years or even decades for a diagnosis and explanation for their symptoms, yet early diagnosis and treatment preserves quality of life.

Treatment

The only treatment for haemochromatosis is a venesection, which is like the process for donating blood. Every pint of blood removed contains about a quarter of a gram of iron. Depending on the patient’s iron levels on diagnosis, venesections can occur every week until the iron levels are brought down to a safe level. Most then go into maintenance therapy, which means having venesections every three to four months, for the rest of his or her life.

My current situation

I have around three to five venesections a year and I am in maintenance. Since being diagnosed I have become a regular visitor to hospitals, where I meet with different consultants (including a gastrologist, hepatologist and rheumatologist) at least once a year who monitor my joint pain, stomach issues, fatigue and general haemochromatosis status.

A few years ago I was diagnosed with having the signs of arthritis in my neck, knees, elbows and hands. These aches and pains are heightened by the hypermobility in my joints. My chance of having arthritis is increased due to my haemochromatosis. A recent study (2017) from Haemochromatosis UK found that more than 85% people with haemochromatosis suffer from joint pain and/or arthritis.

My regular hospital visits have given me the confidence to question health professionals when I feel they are not taking me seriously. Many health professionals only expect severe problems for older patients. Whilst I would rather I did not have haemochromatosis, I realise that the early diagnosis is an opportunity to protect myself and my future health. I do not want to wait until I have severe difficulties before I seek assistance.

At 28 years old I shouldn’t have aching joints, throbbing pains in my knees and feet, which hurt when I walk around, but I do. At the time of writing I have three hot water bottles on my body soothing my aches, and microwaveable slippers – my current lifesavers – for the aching joints in my feet.

I feel lucky to have been diagnosed young. Although there is no cure for haemochromatosis, just knowing why I have these aches and pains stops me from going crazy wondering what is wrong with me. Instead I can take steps to try and ease my pain (one hot water bottle at a time…).

I need help, support and guidance from health professionals. Yet I know that I need to be at the heart of any solution. Understanding what I face allows me to have the healthiest future I can.

LOOK OUT FOR A FULL LENGTH FEATURE ON HAEMOCHROMATOSIS IN THE NEXT ISSUE OF ARTHRITIS DIGEST

Katharine Hough is a Trustee for Haemochromatosis UK, which is working to raise awareness of the condition and its symptoms among the public and health professionals to increase earlier diagnosis and avoid long-term complications. Visit www.haemochromatosis.org.uk or tel 0303 040 1102.

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