25 years after onset of severe symptoms (after having hysterectomy) and then having to wait 9 years for a diagnosis, in the meantime I am staggering and slurring, left side chest pain and then one day, my left hip broke up. Osteonecrosis - my blood was so thick with iron it blocked the finer capilliaries that feed the bone. Then I got a diagnosis because the radiologist knew what was wrong. 25 years later and people are still having the same problem getting a diagnosis.
A simple damned Iron Studies test is all that is needed. Every dr should do one as a matter of course - every year if first one ok. Don't be fooled into thinking that every blood test has been done on you when you are told you are having a Complete Blood Test or a Full Blood Test. It does not include what the Iron Studies does. You should not have to endure a liver biopsy. A brain scan is good to have in your belt for future reference
HH has been known about since sometime in the 1800's for goodness sake! One in 200 have HH, among the Irish it is one in 80. One in 7 are carriers! Get angry people and do something about it. Contact your country's HH organisation. Join or start a support group. Get involved in HH Awareness week and spread posters and brochures around everywhere, especially in medical facilities.
This is what I did, plus talking to medical students, pharmacy interns, health shop people (so they don't sell iron supps to people who complain of fatigue), service groups if you don't mind public speaking (I am horrified by it, but made myself do it), apply for stalls at health expos - people lined up to talk to me about HH. Last Sept, the top haemotologist in my city told me that there has been an "explosion of HH diagnosis" in our city, so I guess my campaigns worked.
No, I can't work anymore either, and doing the above was so demanding I have to take a break now. I had to have both hips replaced, and one was a botched job which adds to my body pain. After 6 years of other strange symptoms, I was found to have an adenoma on my pituitary gland (another body part which can be affected by HH), cancer tumour removed (we are prone to cancer as it thrives on iron), constantly getting Helicobacter pylori (which thrives on iron), heart arrythmias whenever my ferritin iron hits 56, and numerous others - memory! So far, liver good and pancreas good.
So ask for your pituitary gland hormones to be checked too, as you do not know what is lurking there. You may have to be referred to an endocrinologist to get more than you thyroid or glucose levels checked. I don't know what the go is there as my gp did not check my pit gland hormones.
Despite being "deironed" many years ago now - ferretin iron brought down to 13, optimal level that sits best with me now 34, I still suffer fatigue and body pain. I have a very short day. Walking is so arduous. My haemotologist believes that once deiron we should have no more problems - a myth! If we have have been left so long absorbing iron into our organs, the damage is done deep down in our cellular structure.
Now that I have had my dummy spit ...
Michael, you have some symptoms that I have not come across in my support group, ie. nose bleeds, bad headaches, swelling ankles. However, my husband who was consequently found to be homozygous H63D (I am homozygous C282Y, our son C282Y/H63D), did suffer nose bleeds, bad headaches which were never connected to HH. That does not mean anything - we can all have different symptoms. He was eventually diagnosed with Hodgkin Lymphoma - any link? Not known. He no longer loads iron, supposedly due to H63D being a very mild form of HH. Mine is aggressive and last Transferrin Saturation % was 107%!!!!.
The depression is very debilitating too for some people. I know of a family man who ended it all even though they had been diagnosed. Knowing of the drs in his small town, I believe his HH was not being managed properly at all.
Took me a while but I discovered that eating sugars and starches did not agree with me at all. Whenever I have them (and hard to avoid at times), I have a massive truck hit me slump as all blood seems to go to my stomach to help digest, I end up bloated and useless. I recently found in my searching, that we cannot digest sugar a starches very well and we can have the symptoms of diabetes without actually having diabetes. But there are other carbs we can eat, like all the green veges, cauli, etc. Root vegetables are high in starch.
Stephanie, I don't know what your dr is going on about regarding what type of HH gene you have - must be some myth he believes in. It sounds like you have only one pos gene, which means you do not have hereditary haemochromatosis. One gene does not absorb iron. If you have a high ferritin level, it is being caused by something else and should be checked out. Do not be settled on a diagnosis of HH. If it is not caused by fatty liver (which can be made healthy by eliminating bad fats, sugars and starches), then it is something else and it is important that this be delved into further.
I notice that in England, a lot of people are being diagnosed with ferroportin disease, something which I don't know enough about to discuss. CFS like IBS is a symptom of something else, not a diagnosis.
Among other things I have been searching for answers regarding fatigue. It is accepted that it is one of the symptoms (and you know, some people may not suffer that either), but there is no research on it to prove it, how or why. However, I have been noticing that the hypothalamus has been added to the list of organs that are affected by HH. Now if you google this, you will find that fatigue, sleep and circadium rhythms are controlled by the hypothalamus. Also interesting for me, body temperature - as I often wake up 'iced' - in the tropics (without airconditioning). Sometimes happens in the daytime too, as well overheating when others are not so hot. So my thermoregulation is up the creek. What can we do about it??
It is the hypothalamus which tells our pit gland to give us hormone problems, e.g. libido. The hypothalamus does not have a blood brain barrier because it has to allow peptide hormones to pass through. It also samples the composition of our blood (full of iron!). Hepcidin, which does not switch on to switch off our iron absorbtion (when we have HH), is also a peptide hormone which resides in the liver - I wonder if there is any connection.
So many questions and no answers. Most research is done on liver, pancreas and arthritis. Funding for research it hard to obtain because our condition does not require expensive medications for a manufacturer to be brought into the picture as a sponsor.
Sorry got to go - an appointment very shortly - I am going to be late.