1. Community
  2. Blood & Immune System
  3. Haemochromatosis

Delighted to have a diagnosis!

Posted , 3 users are following.

rachel22516
rachel22516

Not so much a question as a story. Just thought I'd introduce myself, and encourage anyone thinking they may have HC to look in to it further, as it's taken me nearly 18 months to get a diagnosis.

I've had a few different health problems in the past, and as a result, I've always felt a bit battered and bruised, but last August (2012), I started a period of about 3 months of being absolutely SHATTERED. My friends all convinced themselves I was pregnant. I stopped going out to the pub, I went to bed at 9pm every night, and 10 hours later, I'd get up and feel all day like I'd been on an all weeker in Ibiza. I went back and forth to my GP around 5 times, and each time she tested my blood. The TS (Transferritin Saturation - for anyone not yet diagnosed) and SF (Serum Ferritin) kept coming back high, and my doc would just say 'we'll have a look again next month if you feel the same'.

In the end, I got so upset and frustrated that nothing was being done, that I started my own research, and I went to see a private Haemotologist. This man ruled out HC in my first appointmenrt (seemingly without doing any tests) and effectively wrote me a letter to say that "trying to find a reason for tiredness is like trying to find a needle in a haystack" and sent me packing. I still have the letter. He suggested that if I worked from home one day a week it may help, so I took full advantage of that, of course.

I began to either feel better, or just get used to the way I was feeling, and it became the norm. Then this August (2013), the same thing happened again, but this time accompanied by abdominal pain - sometimes down one side, and sometimes all the way across. My friends, once again, convinvced themselves I was pregnant, and I wasted a good £50 on home tests, which came back negative every week for 5 weeks. I was beside myself, as I would loved to have been pregnant, but I knew all along what was wrong.

Off I popped to my GP again and layed the cards on the table. I got angry, upset, and expained that something had to be done for my own sanity. She sent for a blood test, and when the surgey rang to explain that my iron levels were high, so they'd need to test again, I near exploded with frustration. I asked outright for a HFE test, and was finally granted one.

4 weeks later, after one set of results being lost in the post, I finally got the call to say I had Hereditary HC, and would need to start a course of venesection. I've got to be honest, I don't so much mind what happens from here on in, because at least I have the prove that I was right all along.

If you thinjk you might have HC, and you're grounded enough not to be one of those patients who sees something on the internet and immediately believes they have it (because I absolutely get that these people exist, and how annoying that must be for trained doctors), push, push and push again for a diagnosis. This alone will make you feel 50% better!

2 likes, 10 replies

10 Replies

  • rubytuesday
    rubytuesday

    Posted

    I had to reply as soon as I saw your beautifully written email - and you can tell in your writing how relieved you are! Well done for persevering!

    Like many others I have been through what you have been through but there are some things you now must do if you haven't done already - if you have that's fine.

    You should become a member of The Haemochromatosis society in London who are fantastic - they are very helpful. I presume you have already been on the web site www.haemochromatosis.org.uk

    The other is you are allowed to ask your doctor for a copy of the results of your tests. It will say on your results sheet that this person has haemochromatosis but it will also say what your HFE Genotype is. Mine is

    C282Y/C282Y and my husband is C282Y/H63D. . This may not be important to know at the moment but it will when you need to know what it is - if you understand my meaning there! It is easier to get this piece of paper at the moment but it may be harder later.

    Also do you have siblings or relatives you should suggest they get checked out - a sibling was allowed a free test when I was diagnosed - but that was 4 years ago.

    .

  • rubytuesday
    rubytuesday

    Posted

    Sorry my reply accidentally went off before I had quite finished - please can I add to it?
  • rachel22516
    rachel22516

    Posted

    How do I let you add to it? Or does the site admin have to do something? I can't see an option to approve your comment...
  • rubytuesday
    rubytuesday

    Posted

    Hi Rachel, not sure why they would not print what I said - I am sure I didn't and wouldn't say something I

    Shouldn't .Always very suspicious ! Basically I said that Well done to you for persevering and there are some things you should do now but the best thing to do is (if you haven't done already?) is to go onto the haemochromatosis .org web site and you will find lots of answers there.you will also find a link there that will

    Take you to their Facebook page where you will find lots of interesting people who have been through what you have been through and some who are still going through! I knew exactly what you meant when you got your diagnosis - it is so rediculous because when caught early enough and vene sections can get started you can stop any further damage. I find it very annoying that so many people could be saved from loading more iron than they need to. You didn't say what your ferritin level was but I am sure now you can get started on vene's

    Which is fantastic.

  • rubytuesday
    rubytuesday

    Posted

    Hi Rachel , I did reply again at 11.08 this morning - not sure at all why it isn't showing here. Maybe they are just very busy and they all just have to wait in a queue or maybe they have gone Christmas shopping or even gone home for Christmas - it is a mystery! I didn't say anything I shouldn't I am sure of that! We can only wait and see!
  • rubytuesday
    rubytuesday

    Posted

    I can only remember that I congratulated you on persevering and suggested that you went to the website of theHaemochromatosis society and from there you would learn a lot more.This of course you may have done already. Best wishes
  • rachel22516
    rachel22516

    Posted

    Thank you smile and yes I have been to the site, and several others. Just happy to have a name to it!
  • Emis_Moderator
    Emis_Moderator

    Posted

    Hi both,

    The posts went for moderation as they included the web address link and I have been off the last two days. I have now approved them, sorry for the wait.

    Regards,

    Alan

    Emis Moderator

  • rubytuesday
    rubytuesday

    Posted

    Thank you Allan - thought it was a bit odd! Merry Christmas
  • sheryl37154
    sheryl37154

    Posted

    So glad to hear that you asserted yourself to get a diagnosis. Mine took 9 yrs after a hysterectomy when severe symptoms started straight away. There is still a lot of denial and lack of consciousness in Australia. I had hoped the UK would be better but it does not seem so.

    It seems drs do not like preventative health. They would prefer we had bad health so that we have to keep coming back to them. It does not cost much to do an Iron Studies test as standard or even a genetic test. Much less than the cost of repairing the damage caused by haemochomatosis.

    Every year I resent more and more the late diagnosis as more problems caused by Haemochromatosis come to the surface. My health has been destroyed by it. It now motivates me to try to prevent others from going through what I went through.

    Insist on getting that ferritin iron down to <30 to get that toxic iron out of your organs and be aware that as well as the usual problems, it does reduce your oestrogen too so when you have those sort of problems, you will know what they are about. and keep having venesections every 3 months once you have been deironed. good luck!

    to="" get="" that="" toxic="" iron="" out="" of="" your="" organs="" and="" be="" aware="" that="" as="" well="" as="" the="" usual="" problems,="" it="" does="" reduce="" your="" oestrogen="" too="" so="" when="" you="" have="" those="" sort="" of="" problems,="" you="" will="" know="" what="" they="" are="" about.="" and="" keep="" having="" venesections="" every="" 3="" months="" once="" you="" have="" been="" deironed.="" good="" luck!="">

    >

Back to top

Report or request deletion

Thanks for your help!

We want the community to be a useful resource for our users but it is important to remember that the community are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the community is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.