Hi Alex I would recommend further reading on Hemochromatosis, it is an either or thing but hard to find out which, it is commonly defined as people who have only one copy of the gene dont have the disease they are carriers of the disease, and people with two copies do have the disease. You say that you only have one copy of the gene, however they at best only test for three of the different types of genes that can cause Hemochromatosis, and over forty different genes have been identified so far and more are expected to be found, the two most commonly found genes C282y and H63D cause about 85% of the cases of hemochromatosis the rest are caused by the genes that are not tested for.
However there is what is called compound heterozygous where people have one copy of two different genes e.g. C282Y and one of the other untested for ones and they can develop Hemochromatosis, although they will only get tested for at best the three most common genes and will often be told that they are just a carrier of say the C282Y gene and dont have hemochromatosis. There is also scientific evidence that some people with only one copy of a gene can become sick. Adding to this confusion some people have two copies of the genes and dont get sick, nobody knows why, it is for these reasons that the iron overload diseases association recommends that genetic testing is not used and relied on because it is bound to lead to people having the diagnosis missed and not treated see
http://www.ironoverload.org/information/objections-pt1.html
Hemochromatosis can best be defined as someone who is overloading on iron, no matter what the genetic tests say, so someone is either overloading on iron or they are not, you appear to be saying that you test indicate that you maybe overloading on iron. The belief that genetic tests show a predisposition to it is because of the holes in the testing and the science dangerous! The only thing that can be relied on is what the iron level tests say and then how the patients respond to treatment, some people can have high iron levels but they drop very quickly with treatment so therefore it isnt iron overload no matter what previous tests have said. If a patients iron levels dont drop quickly in response to treatment they have hemochromatosis, the gene and blood tests are not an accurate measure of iron levels in the body, it is the use of these tests that leads to terms like borderline hemochromatosis, there is also a false belief that iron levels must rise very high before symptoms start, so doctors will say that it is borderline and will adopt a wait and see approach, this is a wrong out of date belief, any excess iron is highly toxic and symptoms start at a way lower level than was previously believed and the longer it is left the worse it gets.
Different people with iron overload store the iron in different parts of the body and nobody knows why. Some people will start storing iron in say the pituitary with very little being stored in the liver, because the pituitary is very small, the size of a pea, it only takes a very small amount of iron to damage it, if this happens the entire endocrine system will not work properly because the pituitary sends out the message chemicals that tell the entire endocrine system to work. It is because of reasons like this that it is now believed by the experts in iron overload that saying peoples iron levels are borderline and adopting a wait and see attitude is now considered very dangerous, because very small amounts of iron overload in certain vulnerable parts of the body can cause disastrous results.
The iron overload site states that a transferring saturation level above 44% should lead to treatment, the treatment will then either confirm or deny the diagnosis depending if the patients iron levels drop quickly or not. See treatment confirms diagnosis here
http://www.ironoverload.org/information/diagnosis-pt2.html
You express an understandable concern about how treatment will affect you, its kind of a catch 22 situation, if you do have iron overload then delaying treatment can lead to permanent organ damage and it can be fatal. There is another test that can help diagnosis in some cases, its called a ferriscan which is a type of MRI that can measure iron stores in the body, however although it is capable of measuring all the iron in the body, it is only being used to measure iron stores in the liver, which is where most people store the majority of the iron, however there are people who dont store the iron that is causing the problem in the liver and if you are one of them, it wont confirm the diagnosis, if you are interested in this there is a site that explains it and where ferriscans are located, 5 in Queensland, here
http://www.resonancehealth.com/resonance/ferriscan
The sad reality is that there are no tests that are 100% reliable for confirming iron overload in all people, the only truly reliable gage is how the patient responds to treatment if iron levels dont drop quickly with treatment then the patient has iron overload. This is the only way that it is possible to tell for certain if you have Hemochromatosis or not. There is a hemochromatosis forum here that has some very knowledgeable suffers on it if you are interested in talking to them about it
http://www.cdnhemochromatosis.ca/forums/phpbb/index.php
I dont know what your test results are but there are a few other conditions that can cause high iron results if you have high ferritin and transferring saturation the other possibilities are listed here
http://en.diagnosispro.com/differen...ansferrin-saturation/11876_10555-154_154.html
Unfortunately the only certain way you can tell if iron overload is an alternative diagnosis that is causing your symptoms is to treat it and see what happens. Hemochromatosis is certainly capable of causing the symptoms of ME and has been misdiagnosed as it many times, it can damage almost every organ in the body, as well as the joints, and can also damage all the endocrine system including adrenals, pituitary and thyroid, it does damage the immune system and can cause NK cell dysfunction.
Sorry but there is no way I or anyone else on the planet can give you a 100% guarantee as to whether your tests results mean you have iron overload or not, the more up to date researchers say only treatment can confirm, the tests are just not sensitive enough at the moment.
So in a nut shell the genetic tests are unreliable and the blood iron tests are not always an accurate measure of iron in the body, and only treatment can confirm the diagnosis. If your tests are indicating it is a strong possibility it is up to you to decide how to proceed.
RE Which raises an amusing point: how come an under-resourced and by current standards ignorant doctor, a century and a half ago, knew more about ME than most doctors today?
Simple answer, they listened to their patients LOL
Cant say I know much about atypical diabetes theres a few articles on line about it like
http://www.hongkongstemcell.com/c/o_information_93.php I get the impression the medical community doesnt have to much of an understanding of it either, sigh, but there is the possibility that you have excess iron in your pancreas or some other part of the insulin control system which is possibly causing it.
Regarding PEM what people want to believe is up to them, but a few points that you might want to consider are.
The first main source of information on PEM is the CCC which invented the disease ME/CFS by combined the two conditions ME and CFS, it is also mentioned as a symptom in the CFS fukuda definition but without a lot of detail, Dr Carruthers has since then been the principle writer of the ICC which states that the CCC was wrong and ME and CFS are different, so PEM in the CCC has been come up with by mistakenly combining two very different conditions, The second thing is that nowhere in the CCC does it say that PEM is only found in ME/CFS, what it says is that it is a cardinal symptom of ME/CFS not an exclusive to ME/CFS symptom, but that there are other diseases that have a similar symptom pattern and that they have to be ruled out because of this. E.g. you cannot just diagnose ME/CFS on the symptoms that they outline because other diseases will cause these symptoms including PEM and will be mistaken for ME/CFS unless they are tested for and ruled out. The diseases that they say can also cause the symptoms that they outline in the CCC for ME/CFS they state are
Addisons disease, Cushings Syndrome, hypothyroidism, hyperthyroidism, iron deficiency, other treatable forms of anemia, iron overload syndrome, diabetes mellitus, and cancer.
It is also essential to exclude treatable sleep disorders such as upper airway resistance syndrome and obstructive or central sleep apnea; rheumatological disorders such as rheumatoid arthritis, lupus, polymyositis and polymyalgia rheumatica; immune disorders such as AIDS; neurological disorders such as multiple sclerosis (MS), Parkinsonism, myasthenia gravis and B12 deficiency; infectious diseases such as tuberculosis, chronic hepatitis, Lyme disease, etc.; primary psychiatric disorders and substance abuse.
All of these conditions will cause the same symptom pattern and they have included iron overload as one of the diseases that will do this. Unfortunately there exclusion list is a bit lazy because they say things like, neurological disorders such as MS etc, these are not complete lists there are many more unnamed diseases that will cause these symptoms.
I have a family member that has Parkinsons and I can tell you that they are right Parkinsons causes PEM.
The point is if PEM was exclusive to ME then there would be absolutely no need to have these exclusion lists for other diseases, if ME was the only disease in the world that caused PEM it would be one of the simplest disease on the planet to diagnose and the answer to what causes it would have been found a long time ago because there would be no mixed cohorts.
There is nothing exclusive to ME about what they term PEM
Post-Exertional Malaise and/or Fatigue: There is an inappropriate
loss of physical and mental stamina, rapid muscular and cognitive fatigability,
This is found in many conditions. They then say
post exertional malaise and/or fatigue and/or pain and
a tendency for other associated symptoms within the patient's cluster
of symptoms to worsen.
because they use and/or, what this mean is that the patients can have post exertional Fatigue, or post exertional malaise or post exertional pain(with no definition of what pain or where), or combinations of these, this is not a definition of a symptom, this is a definition of a multitude of symptoms that can be completely different from one patient to the other. To make matters worse malaise, fatigue and pain are scientifically completely un measurable and are symptoms that are also found in psychiatric diseases like depression, which is why they have included psychiatric illnesses in the list of conditions to rule out, they can cause PEM.
All it actually says is that exertion can make the patients symptoms worse, this is found in hundreds of conditions.
They then say There is a pathologically slow recovery
period.usually 24 hours or longer.
Again found in hundreds of conditions.
So not only do they not say that PEM is exclusive to ME/CFS quite the opposite they give lists of other disease to rule out that can cause it. But their description of PEM is not that of a symptom, it is the description of a multitude of symptoms that different patients can have very different combinations of, all given the same label.
Although it is written in a way that sounds impressive, when it is broken down all it actually says is that exertion makes the patients symptoms worse, which is a sign of having just about any chronic illness.
Although Im pleased that the ICC has separated ME from CFS it unfortunately repeats the same pattern, It again states that what they are now calling PENE is a cardinal feature, not an exclusive feature! It does say that all other alternative diagnoses that could explain these symptoms should be ruled out, but this time they dont make an attempt to list them.
It again uses language that at first gives the impression of a comprehensive symptom but again a close inspection shows that it isnt actually describing a symptom it is again a matter of choosing from a multitude of symptoms and therefore doesnt really define anything.
They define PENE as
1. Marked, rapid physical and ? or cognitive fatigability in response to exertion, which may be minimal such as activities
Of daily living or simple mental tasks, can be debilitating and cause a relapse.
2. Postexertional symptom exacerbation: e.g. acute flu-like symptoms, pain and worsening of other symptoms.
3. Postexertional exhaustion may occur immediately after activity or be delayed by hours or days.
4. Recovery period is prolonged, usually taking24 h or longer. A relapse can last days, weeks or longer.
5. Low threshold of physical and mental fatigability (lack of stamina) results in a substantial reduction in pre-illness
Activity level.
A close look and you immediately see things like the symptoms can be physical and/ or cognitive, so one patient can have physical symptoms, one can have cognitive, one can have both, this is a description of three very different symptoms. You see them saying, can lead to worsening of other symptoms, without a definition of what these symptoms are it is meaningless. They say post exertional exhaustion can occur immediately or be delayed by hours or days, again this is a description of very different symptoms from person to person.
The ICC description of PENE is just like the CCC description of PEM it is not the description of a symptom it is a description of a multitude of symptoms which are very different, and that different patients can have very different clusters of these symptoms and still qualify for the diagnosis. They dont describe a symptom, they describe a vague ill defined cluster of symptoms that are common to a vast multitude of diseases. If they had said that the cardinal symptom was something like flu like symptoms including fever delayed by 24 hours that would be a symptom that could be used, what they have defined is a meaningless collection of very different symptoms found in lots of conditions that get worse with exertion.
To make matters worse apart from the fact they have called it PENE which is penis in Spanish(oops), they are stating that these symptoms are caused by defects in the neuro immune system. There is no 100% scientific proof that this is the case, and because of this they are likely to be discredited in the scientific community, they also have include XMRV as a possible cause when the science had already torn that theory to shreds, again leaving them open to being discredited. The symptoms that they outline in the ICC can just as easily be attributed to an endocrine problem the ICC is after all a good description of Addisons disease.
It is impossible to write any list of symptoms that can be used to say that anyone has ME, it has the same or similar symptom patterns to a multitude of diseases. Dr Hyde who probably knows more about it than anyone else, never says that a patients symptoms mean they have ME, he knows that its symptoms can be produced by a multitude of diseases and he systematically rules them all out until ME is the only possible diagnosis, he states that PEM is found in many conditions that patient that wrongly get diagnosed as having ME have, interstingly he also does not say that PEM is even a cardinal symptom of ME, He finds that about 75% of his patients have been misdiagnosed and dont have ME, and because of the expense of seeing him most of these patients have already been able to afford extensive medical testing which has failed to find the diagnosis.
The CCC and ICC along with all the CFS definitions are just lists of symptoms found in numerous diseases, relying on them to say a patient has ME is wrong and will lead to misdiagnosis and unnecessary deaths unless all other possibilities are ruled out first. Unfortunately documents like the CCC are written by doctors for doctors, it says that PEM is a cardinal feature not an exclusive feature of ME/CFS and lists a large number of other diseases that can cause it. Doctors know that what they are describing as PEM or PENE is found in numerous conditions, unfortunately people who are not medically qualified are reading the likes of the CCC and have jumped to the conclusion that PEM is only found in ME and this has spread across the internet, it is a dangerous myth not backed up by medical science, and it is a view that is not supported by the writers of the CCC and ICC they say it is a cardinal not exclusive symptom and that other diseases must be ruled out.
Regarding the lights and pacific fatigue lab research, I see no evidence of extensive investigation of patients to rule out other diseases, and the use of CFS criteria and wrong names for ME like ME/CFS, so Im far from convinced that this isnt just research on mixed cohorts adding to the confusion.
Anyway nice chatting to you, I hope for your sake you do have iron overload that is easily treatable! And treatment makes you better.
All the best
