The Ongoing Impact of Iron Overload

I first posted about iron overload or hemochromatosis around Thanksgiving 2008. That's when my wife Chey learned she had this incurable, degenerative, and potentially fatal genetic condition. Since then we've learned a lot about iron overload (for example, as many as 1 in 300 Americans of Northern European descent may suffer from it, most of them undiagnosed and headed for an early grave).

We've learned that several of Chey's relatives suffer from the condition and others may have died of it. Death from untreated iron overload comes in several forms, two of the most notable being liver cancer and cirrhosis of the liver.  (If a relative is diagnosed with cirrhosis of the liver but they claim they don't drink much alcohol, they could be telling the truth. It could be iron overload.)*

Iron overload can damage other organs and glands besides the liver, such as the gall bladder, the pituitary and the thyroid. So, if you are diagnosed with hemochromatosis, your doctor will probably order a bunch of tests to check if there has been damage. A referral to an endochronoligist is likely.

In my wife's case the endocrinologist has already confirmed thyroid deficiency which he is now treating. Now he has  found, via a pituitary test, very low growth hormone. Some of the changes associated with GH deficiency are loss of energy, a loss of interest in usual hobbies or activities, and a decrease in sociability referred to as social isolation. "Patients suffering with this symptom do not like to go out and meet with their friends or social acquaintances. Patients may also develop mild depression or decrease in sexual function." All of which fits Chey. Oh, and untreated low growth hormone can spell early mortality in adults.

On the upside, it is possible that Chey's GH levels will increase when the iron overload is treated and all sorts of good things will follow, like more energy, more interest in life, more sociability, and so on. On the down side, we still haven't found a doctor to authorize iron overload treatment (namely phlebotomy, a.k.a. drawing blood).

We are getting closer, but still managing to fall through gaps in a set of health management practices that are clearly not adequate for dealing with this condition. Chey's iron levels are now twice what they were back in November when the original diagnosis was made. Her doctor is still reluctant to authorize phlebotomy, even though the nurse who took Chey's last blood sample said the blood was almost too thick to draw!

After much research we figured that the kind of doctor you probably want in this situation is a hemotologist. Chey has been trying to get an appointment with one for months. Last week she finally got one, for next week. Apparently people who don't have iron overload don't worry too much about the damage it is doing to those who do.

Pardon the cynicism, but I think it's understandable when you've watched the one you love decline physically for years while being told "it's all in her head." Then you've watched her suffer for months with terrible pain from a deadly condition that a dozen doctors missed, only to hear "Sorry, the doctor's are all on vacation this week, she'll have to wait."

So, we will see what next week brings. In the meantime I am researching the fraud cases that led to iron overload testing being dropped from standard blood panels in 1996, about the same time doctors realized hemocromatosis was a genetic condition. Talk about bad timing.

* See the next exciting Iron Overload episode: The Alcoholic Father Who Wasn't.