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, you are an inspiration to all! What a deeply personal message and you are so brave – and caring – to share your story and hope for others! God bless you and keep you in His care!
Thank you for your kind words of support and encouragement, Debbie. Happy New Year to you and yours.
I’m so sorry to read that this has happened to you, and I admire your bravery in sharing so that others might get the help they need more quickly. Lots of love- and hoping you continue to get the medial help and support you need xx
Hi Keren, *waving*! Yes, an uncomfortable share, but one I feel passionate about; getting the word out to get a simple iron check next time you have your bloods done. It would save the NHS money in the long run because it would be so easy to prevent the damage of arthritis, liver disease, heart disease, cancer etc.
Hi Debby. Thank you for sharing your story, and for being so honest about your personal situation. It can be really hard to come to terms with a life-long diagnosis, and I hope that you get some better news soon about the joint replacements that you need. I so understand your words when you speak of mourning the life that you should be living. Sending very best wishes for the coming year, and thank you for raising awareness of this condition.
I’m sorry, Susan, that you can relate to my situation. I hope that your own circumstances are well managed and that you get the best care. Best wishes for 2022 and leading the best lives we can with vigour and grace!
I knew from some of your posts that you were dealing with a chronic illness but figured it was arthritis. Thank you for letting us know the details of your condition. We have all learned so much about this until now, for me, unheard of disease, through this personal post. I am sending heaps of hugs and well wishes for a better 2022 for you.
I guess arthritis is one of the side effects so you were spot on. It’s just that the cause was this condition rather than as the doctors thought just being a middle-aged woman. I guess in the few minutes a doctor has to spend with a patient they make split decisions. I just wish they were more open-minded and didn’t dismiss everything just because you are older or female! Hugs back to you and let’s make the most of 2022!
Oh my Debby, what a story and what a disease. I had never heard of it and if I read than that 1 on 200 European inherit the genes, I was shocked.
So glad you posted this although it’s a very personal thing. Often people forget what the consequences on daiy basis are from a disease.
Also a good thing to talk about with your doctor when you have unexplained symptoms that look like these.
Stay on top of things and keep asking for tests seems to me the best if I read this.
Thank you so much for sharing this with us Debby, I hope you will improve even when it’s a little, every bit helps with joint pain. Very big hug for you and wishing you a fabulous 2022 with your loved ones.
Henriette, yes if after reading this people advocate for their own health and request more tests then I will be delighted. The more people that get checked for this condition which would be so easy to manage if caught early enough. Wishing you the best for 2022 filled hopefully with lots of creativity!
Hello Debby. Thank you so much for sharing this valuable information. It is a real public service! I hope your health journey finds you some relief and that you are feeling better as time goes on. I so enjoy everything you share on your blog. I am always so grateful when people share information like this so that we can all remember that we are not alone, and also to learn about important things.Life can be so challenging and we forget when we consume too much social media and it all looks glossy and bright. Thank you for keeping it real! Sending you much love from California. Here’s to your continued improvement!
Ah, yes, social media is definitely a highlight reel where we see the glossy side of people’s lives. The internet and the communities within it have given me so much, but at the same time, you do need to stay aware of the negative aspects it can have on you.
Thank you for your support in sharing this information. I hope it helps someone. If one person is saved from painful arthritis or liver disease etc then this slightly uncomfortable post for me has been worth it.
Thank you for sharing your story Debbie. I have been living with Rheumatoid Arthritis for over 21 years and I have been reluctant to let people know how it affects my mental wellbeing and how isolating it can be. I can remember once being told that I needed to pull myself together and be grateful that I didn’t have something serious like cancer. I was able to reply to that negative challenge by quoting a caption from an arthritis charity campaign – ‘Arthritis doesn’t kill you but it takes your life’ I know you will be able to relate to that and I send my heartfelt wishes for a happy, healthy and creative 2022. As always I look forward to your next inspirational blog post xxxxx
Oh, I can so relate to that quote. In fact, I’m going to write it down somewhere so I remember it. I’m so sorry you have been dealing with RA for so long. I hope you have a good plan in place to make life as good as it can be. Hugs, Debby x
I commend you for writing this personal and very informative post in order to help others, Debby. I am glad you finally got an answer, but I’m very sorry that you suffered for so long and continue to do so. And thank you for sharing your beautiful works of art with us with lots of tips and tricks along the way. You are a giver, my friend. Hugs, Darnell
Thank you, Darnell, it means a lot to have such amazing people in this community lending support. Hugs, Debby x
I meant to comment here the day you posted but have been dealing with some health issues myself. I am at the opposite end of your condition and have been dealing with low iron for many years, along with so many other women. I am so glad that you finally were able to get a proper diagnosis. As women, we need to stand up for ourselves with respect to our health. We know ourselves best and when something isn’t right, we need to be listened to instead of being handed a cookie cutter solution that doesn’t work for everyone. Thank you for sharing your story and I hope that you find what works for you in bringing you some relief in the coming months. Take good care and happy new year!
I’m sorry to hear you have been having health issues, Tammy. I wish you the best with getting better on that front. I agree that advocating for our own health is so important when medical professionals are pushed for time. Especially as a woman, especially as a middle-aged woman and especially as an overweight, middle-aged woman. So many assumptions are made as you walk through the door. Wishing you a path to better health. Hugs, Debby x
Thank you so much for sharing your personal health struggles. I had never heard of this. Information is powerful.
Thanks also for sharing your considerable talent with us. It is inspiring.
I’m glad I am getting the word out Vicky and raising awareness of this condition. The more people that know the less likely it is for them to end up in my situation. Thanks and take care, Debby x