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Is Any Specific Disease Misdiagnosed More Frequently Than Any Other?

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In my opinion, yes! And depending on the population group of any country, Hemochromatosis is that condition. In Canada where it is estimated that 1 in 3 individuals – especially those with a Celtic background – will die of this inherited condition. It seems to me that no matter how many years of my life or how much of my own health have been invested in hemochromatosis awareness, many doctors, including specialists, are still not spotting the tell-tale signs.

Many years ago – it seems like a century ago although it was only in 1980 that I established the Canadian Hemochromatosis Society in Victoria, British Columbia – one of the first things I was determined to do was to put out a newsletter as frequently as I was able, in order to keep those already diagnosed, as well as their family members, up-to-date with new developments. All were encouraged to submit their own stories, to be included in this amateurish publication – laboriously typed out on my little Olivetti portable – and I reckoned that Iron Filings – an intended pun provoked by my inventor husband’s everlasting filing away at some new “gadget” in the garage – was an apt title for stories about a disease caused by TOO MUCH IRON.

Iron Filings

Nowadays the Canadian Hemochromatosis Society, the head-office of which is located in Richmond, British Columbia, is able to produce a really first-class publication – still called “Iron Filings” – and the articles and stories are so riveting that I never discard a single copy. Periodically (please excuse another pun!) I take a look a some of the older publications, and it is the re-reading of a story on the front page of the Spring 2010 issue that has prompted me to write this.

One Man’s Story

“Out of The Blue,” a story submitted by a good-looking young man called Patrick, is well-written, and many of the details he includes are quite riveting – starting with the fact that his experience with hereditary hemochromatosis began the month before his 33rd birthday (just about the age my daughter was when she phoned me to say, “Mom, I think that I have this iron thing that Dad has.”… And I replied: That’s nonsense! In the first place women are notoriously iron-deficient; secondly it’s not hereditary, thirdly, it’s far too rare – and, what’s more you are far too young!”)

In August 2009, despite the fact that Patrick was feeling generally healthy, he was declined extended disability insurance as a result of some routine blood analysis completed by an insurance company. Essentially, his liver enzymes were “elevated.”

He goes on to relate : “My liver enzymes elevated? It was a surprise for sure, so a trip to my general physician ensued, resulting in numerous tests in an attempt to rule out any major infectious diseases. In the end, his biggest concern was hepatitis A or B., which didn’t make sense to me, but was the most logical explanation for my liver enzymes. He also lined me up for an abdominal ultrasound which I was able to get in mid-October, and which produced more questions as it showed an enlarged spleen and enlarged lymph nodes in my abdominal cavity. I soon had a referral to a gastroenterologist, which took another six weeks, so there was more waiting and wondering.

“Life went on as usual, but I did stop drinking because we knew my liver was compromised in some way. … The gastroenterologist I saw at the end of November was straightforward. He asked me about joint pain, ordered a few more the tests and then tested my ferritin. This was the first time I had heard about ferritin.”

Patrick continues by telling the reader how when his wife was away on a ‘work trip’ on the day his lab results arrived in the mail and his ferritin results came back ‘off the charts,’ as he puts it, with the first number high in the 9,000s. By the time she came home that night, he had spent some time with “Dr. Google” on the Internet and realized the gravity of his situation When his wife came through the door, he greeted her with: “I think I know what I have. It is called Hemochromatosis. (Homozygous for HH ie. a carrier of two genes necessary for development of  the full-blown disease). It appears that, because of these enlarged nodes and the extremely high level of ferritin the specialist was not convinced that it was just HH. He reckoned that the problem could also be leukemia or lymphoma, so, before he knew it, Patrick was ordered to undergo an urgent CT scan, and he was then left with a message of impending doom – as well as having to wait for the results of genetic tests – right before the Christmas holidays; results he would not receive until early 2010. Furthermore, because no one in his family had ever been diagnosed with HH, at least as far as he was aware , the doctors became even more skeptical that this was his main problem.

“I received a positive genetic test for HH (homozygous C282Y) in mid-January and was referred to a hematologist, who ruled out the additional scare of lymphoma and got me started on a weekly phlebotomy regime in February – which will continue as long as my hemoglobin stays reasonable and my ferritin levels are lowered to a target of 50.

“Even with my out-of-the-ordinary lab results, it still took five months to get my diagnosis with HH. I am a young, healthy man with no other medical problems. I did not have unusual abdominal pain or fatigue. Out of all the symptoms that could be attributed to HH, I only ever experienced joint pain in the thumb and forefinger of both my hands. However, I had gone to the doctor about this four years ago, which he and I both chalked up to repetitive stress from daily computer work. The doctor suggested I wear wrist guards, which I have been religiously wearing since, and have helped reduce my wrist and hand pain, but not eliminated it. My ferritin level continues to be high (in the high 5,000s) and I have a number of appointments lined up with specialists (including an MRI scan and echocardiogram) to help assess the extent of damage my iron overload has had on my system.

“The purpose of my story is that had I not had the test from my insurance company, I am sure I would have suffered more severely from HH within the next decade. I now encourage my friends and acquaintances to have their ferritin tested by their doctors whether they have HH in their family or not particularly if they have any of the following symptoms: Transferrin saturation percentage (TSAT) is also an important diagnostic tool,. which, if elevated, is a good indicator that HH is present.

“I’ve been told that I must be the quarterback of my own health and stay on top of my treatment and conditions related to HH. I’ve pushed to see not only a hematologist, but also other specialists like cardiologists, gastroenterolo-gists and so on because HH is a multi system disorder especially depending on the severity of its impact when diagnosed.

“I remain hopeful that I will successfully work through my treatment, lower my ferritin, manage any associated conditions and live my life to the fullest, despite my HH. – I wish the best to those of you similarly affected with HH as well. Medical research indicates that end organ damage begins at a when serum ferritin is in excess of 1000ug/mL”

Patrick is a member of the Canadian Hemochromatosis Society; and that he is an enthusiastic one is proved by his sharing this story!

What is most amazing, as far as I am concerned, is that out of all his symptoms that could be attributed to HH, he only ever experienced joint pain in the thumb and forefinger of both his hands!

Books, Pamphlets, Lectures – What Else Should I Try?

After All These Years, of ‘Preaching,’ Lecturing, and Writing, I have found that Richard’s story is not unique. Read more here.

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About Marie Warder

Born in South Africa, became a journalist and later trained as a teacher before establishing my own school - "Windsor House Academy, of which I remained the principal until I emigrated to Canada. Love to write, and have published 27 books. Played the piano in my husband's dance band for 33years. Founder and President Emerita of the the Canadian, South African and in International Association of Hemochromatosis Societies,
  • Dr. Joseph S. Maresca

    Does this disease recede with chelation therapy?

  • Marie Warder

    Dear Doctor,
    I have never been enthusiastic about chelation. In my opinion – which is also that of the Canadian Hemochromatosis Society, as well as the experts like Professor Tom Bothwell of South Africa, et al – it is a bit like Nero fiddling while Rome burned. There are occasions when short-term chelation therapy is useful, but it never removes all the iron – as venesection – would, leaving a residue which, in time becomes toxic

  • Marie Warder

    I shall never understand why a “dash” ends up looking like this..?