I’m taking a moment’s break from creative posts to raise public awareness of Genetic Haemochromatosis. If this post is not for you, then please skip along and I’ll be back sharing new cards and videos soon.
I was reticent to share this blog post. I am a private person and it feels weird putting my medical history out there, but if by posting this I can save one person from my experiences, or worse, then this has been worthwhile.
In addition, societies such as Haemochromatosis UK who have been so very helpful following my diagnosis are looking for case studies of how Genetic Haemochromatosis has affected them and their families. What better way to share the information than via a blog post and hope that as many people see this as possible too.
what is genetic haemochromatosis?
Genetic Haemochromatosis is when the body is genetically programmed to absorb too much Iron (chemical symbol FE).
I always thought we had to work hard to make sure we had enough Iron – cereals are fortified, and so is the flour that makes our bread. And yet some people, through their genetics, absorb too much Iron, and it becomes toxic. So much so that the body puts it anywhere it can get it out of the way – joints, liver, heart, pituitary gland, thyroid and more. And although it might be “out the way”, the Iron causes damage – arthritis, liver cancer, disease of the heart muscle and late-onset diabetes, among other things. If left untreated, this can lead to premature death. So this innocuous little part of our diet can, for some people, be life-threatening.
As many as 1 in 200 people of European ancestry inherit the genes that cause Haemochromatosis, especially those with Celtic origin. A straightforward blood test can determine Iron levels and the treatment for levels that are too high is simple: venesection, whereby a pint of blood is drawn. The body then produces blood to replace the lost blood and in doing so draws on Iron reserves to create red blood cells. Venesections on a weekly or fortnightly basis reduce the Iron levels to normal. From then on, for the rest of their lives, people with Haemochromatosis have venesections or give blood in order to keep their Iron levels within normal limits. How often depends on the person.
genetic haemochromatosis – my story
That is a quick rundown on Genetic Haemochromatosis, but it doesn’t get across the life-changing effects. So here’s my story.
I had a dodgy pelvis when pregnant with my children, and so when I developed hip pain in my late 30s, I initially attributed it to another side effect of childbirth. However, as time went on and the pain was persistent, finally in my 40s, I got it checked out and was told I would need a new hip at some point. However, being so young, I was encouraged to soldier on and keep going for as long as possible.
As time went on into my 40s and 50s, more and more places hurt. My hip, lower back, knee, and joints in my feet and hands were notable but everywhere felt like it was either hurting or not functioning correctly. By now, I was also incredibly tired. I kept seeing the doctors and asking whether there was something systemic/whole body going on. Checks were made for Rheumatoid Arthritis and such, but results kept coming back as all clear.
I was getting more and more desperate. As the joint pain had increased, my world had, in turn, decreased. I couldn’t do the things the family could, the things I wanted to do, like walking in the hills and sightseeing on family holidays.
Thankfully, in the summer of 2019, one of the doctors decided to start from scratch, and she ran a bank of blood tests, and the results revealed that my Iron levels were very high. Genetic Haemochromatosis was mentioned but thought unlikely, but further tests showed that I did indeed have Genetic Haemochromatosis. My Iron levels were so high that doctors in the practice had never seen a figure like it before.
Being told you have a genetic condition was overwhelming. It wasn’t like I was told I had cancer or anything, but equally, it was a lot to deal with. However, weirdly it was also a relief. Having a diagnosis explained what was happening and that I wasn’t going crazy.
It took six months to get through the health care system and start getting my blood taken, and throughout 2020, regardless of Covid and lockdowns, I attended the hospital every two weeks.
As my levels came down, I was frequently asked if I felt better. Unfortunately, most of the side effects listed above do not respond to reducing Iron levels. I have to learn to live with the side effects of having had too much Iron running amok within me for 15 years. I mourn for the person I wanted to be, but I am trying to work with what I have and I am talking to my consultant about what joints can be replaced and when.
If you are suffering from any of the symptoms mentioned, please make sure a simple blood test checks for your Iron level. It is quick and easy and could save your life and that of your family members. Because Genetic Haemochromatosis, as the name suggests, is genetic, so family members should be checked.
If any of the above affects you, please get help from your doctors or from societies set up to help those with Genetic Haemochromatosis. I found Haemochromatosis UK to be very helpful and there are a number of Facebook Groups where I also found a wealth of knowledge amongst other people affected by this condition. Equally, reach out to me. I know from the groups I am in, that it is helpful to know you aren’t alone.
OK, I’m going to wind things up now. I wish you a wonderfully creative New Year and one where we all take good care of ourselves.
Debby, I am so sorry that you have these health issues and that it took so long for you to get an accurate diagnosis! I learned a lot about this condition (one I had never heard of) from your post. I commend you for putting it out there for everyone to know when you did not have to. I believe that a lot of people will benefit from your post about this disease> I hope that you have a better 2022 and that you get some relief from your symptoms! I love your creativity and all that you teach us with your wonderful posts!
Hi Margarita, thank you for supporting my post. I’m glad you read it and learned about this condition. It was certainly an uncomfortable share, but one I felt I had to do as I feel passionate about preventative action and research in this field and that will only come with more awareness. Have a great week. Debby x
I am so glad you published this. So many conditions gave similar symptoms, it is difficult to see the forest for the trees. Clever doctor. I am sorry you endured 15 years of this and that the damage is permanent. I know how hard it is to see your life shrinking, as I have normal arthritis at 70, but you were so young when those limitations started. One thing surprised me though. I have my iron levels tested every year at my annual blood work. Is this not normal in the UK?
Deborah, yes it was a long haul but eventually, we got a diagnosis. I’m sorry to hear you have limitations due to arthritis. It is horrible to find your world decreasing in size, but I am trying to live the best life I can within those limitations. I hope you can too. As for the UK blood tests. We don’t get annual blood work, but whenever something is wrong then it is normal to draw bloods. However, iron it seems is not routinely on the list and has to be requested. Again, something I would argue needs changing. Thanks for popping in. Have a lovely end to the week. Debby x
Debby, My thoughts and prayers are with you! I have had one knee replacement surgery and both hip replacement surgeries. In fact, I am currently going to Physical Therapy for the second hip replacement. Now I have a matched set. It’s well worth the effort though it’s taking me a little longer this time because of circumstances and age. Lol! My first hip surgery was 8 years ago and I would definitely have them all again. Wishing you the best!
Oh, you are the true bionic woman! I’m glad to hear you have found the replacements a success – it gives me confidence as I face my own journey. We are still working out the details as I’m not a ‘straightforward’ case but it looks like I will have my first replacement soon. How soon I hope to find out next week. Keep doing that physical therapy – I’m getting in the pool as often as I can to strengthen and prepare as best as possible. All the best. Debby x