Hemochromatosis: Support and Discussion

by Stephen Cobb on December 15, 2008

So, it has been about six weeks since my wife was diagnosed with hereditary hemochromatosis and I have lost track of the number people I have told about this truly insidious condition. I have told my family, my friends, and anyone who reads this blog. It really is a sick bastard of a condition and more people need to know about it.

One of the burdens of finding out you have hereditary hemochromatosis is the need to tell all your “blood” relatives. Chey did that and got some telling responses. She found out that her mother’s brother, long out of touch, has been in really bad shape for some years now, with a. heart disease that has required extensive hospitalization and has doctors baffled, b. serious liver problems despite the fact that he is not a drinker.

Bingo! Both of those sound like the kind of organ damage that hemochromatosis does. And his sister, Chey’s aunt, died of liver cancer at a very early age. Clearly, the need to run routine tests for hereditary hemochromatosis as a standard part of preventative health care is emerging as a theme in this new world of unwellness we are exploring.

Another theme is complexity. The treatment for hereditary hemochromatosis sounds simple: frequent phlebotomy. But the reality is a little different. First of all, a diagnosis of hereditary hemochromatosis is typically followed by a whole bunch of doctor visits and tests to determine what damage the condition has inflicted so far. As mentioned in my previous post on this, women naturally mitigate or the effects of the condition, to some degree at least, from puberty through menopause. This does not mean their organs are not being damaged.

When Chey had arthroscopic surgery on her shoulders years ago the surgeon mentioned seeing crystals. Dude, those were probably iron crystals, and if a patient has those then there is a good chance she has hemochromatosis; point that out to the patient and she can start dealing with it.

But no, this guy did shoulders–did them very well-but that was all he did (in fact, I went to see the same guy for soreness of the shoulder that turned out to be caused by a herniated disc, which he didn’t diagnose because–you guessed it–he’s a shoulder guy).

That was just one of the many times over the years that a greater physician awareness of hemochromatosis (and greater levels of patient awareness on the part of physicians) could have resulted in less damage to Chey’s organs.

We are now awaiting the results of tests, pituitary, adrenal, thyroid, liver, etc. We think the heart is okay because she did well on a stress test earlier this year. Lungs seem good too, something we know from a very thorough testing at the quit smoking clinic last January.

In the meantime, Chey continues to experience extreme fatigue, bad headaches, and severe stomach pains; not all day, not every day, but most of the time on most days. With a lot of time to think while waiting out the pain, she is beginning to see the past in a new light, the last ten years of it anyway. She realizes that she was much sicker much sooner than she admitted to herself at the time. She was understandably loathe to accept that, somewhere around 2004, she had become technically disabled, i.e. she could not have held down a 9 to 5 job for 5 days a week.

There’s still plenty of room to hope for a return to a more normal existence. We draw inspiration from “The Man Who Turned Orange” in Season 3 of Mystery Diagnosis on Discovery (Episode 2). Here was a marathon runner who described a rapid decline to the point of feeling, and walking, like he was 80. Depressed and suicidal, he was brought to his knees, literally, by what turned out to be hemochromatosis. With treatment he finally got back to the point where he could run a marathon again. Chey has never been the marathon type, but if she got to the point where she could walk the dog every day, that would be wonderful (and the dog would be really happy too).

Anyway, the whole point of this post was to help people with hemochromatosis get in touch with other sufferers. So, here are three resources we have found. There is an old fashioned mailing here and a somewhat more accessible forum here. It really does help to talk with others who have the condition. And we don’t think you have to be Canadian to join this forum. If you know of others, please comment on this post and let folks know. Thanks.

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