What Am I Thankful For? A diagnosis of hemochromatosis

by Stephen Cobb on November 30, 2008

I have been trying to find the right way to write this post for about two weeks. Now we’ve arrived at the time of the year when it’s traditional to speak of things for which we’re thankful, I figured I would put it like this: I am thankful for a diagnosis, even though that diagnosis is hemochromatosis.

That might sound strange given what is written on the cover the “bible” of hemochromatosis, The Iron Disorders Institute Guide to Hemochromatosis:

It’s Real • It’s Common • It Can Kill You

And it’s all true! If left untreated, hemochromatosis can kill you, often through some form of liver disease. And hemochromatosis is particularly prevalent among people of Celtic and Northern European origin. It is incurable. It is genetic. If you have it, you may pass it on to your kids. Here are the basics, as presented by the Iron Disorders Insitute:

…hemochromatosis is an inherited condition of abnormal iron metabolism; it is not a blood disease. Individuals with hemochromatosis absorb too much iron from the diet. Iron cannot be excreted therefore the metal can reach toxic levels in tissues of major organs such as the liver, heart, pituitary, thyroid, pancreas, and synovium (joints). These overburdened organs cease to function properly and eventually become diseased. Therefore, undiagnosed and untreated HHC increases the risk for diseases and conditions such as diabetes mellitus, irregular heart beat or heart attack, arthritis (osteoarthritis, osteoporosis), cirrhosis of the liver or liver cancer, depression, impotence, infertility, hypothyroidism, hypogonadism, and some cancers. Mismanaged iron in the brain is seen in patients with neurodegenerative diseases: Alzheimer’s, early onset Parkinson’s, epilepsy, multiple sclerosis, and Huntington’s disease.

Sounds pretty bad, right? So why on earth would I be glad about a diagnosis of hemochromatosis? If you have studied hemochromatosis or have this condition, then you’ll know what I’m talking about, but many people have never heard of hemochromatosis. This is pretty amazing since it’s the most common genetic disorder in the United States, affecting an estimated 1 of every 200 to 300 Americans.

Until two weeks ago “people who’ve never heard of hemochromatosis” included me and my wife, Chey. Then we came home one evening to find a message on our answering machine. It was from Dr. Carol Beechy, Chey’s new doctor.

Dr. Beechy is one of those wonderful doctors who listen to you when you say things like “I feel terrible” and believe you if the honest answer to the question “Where does it hurt?” is “All over.” Dr. Beechy is not one to tell you that you’re imaging things or to run a bunch of tests and say “The results are all normal, so there’s nothing wrong with you,” when the truth of the matter is “Despite all those tests, we still don’t know what’s wrong with you.”

Just to give some background here, when I met Chey, twenty plus years ago, she was a picture of health and it wasn’t hard to picture her surfing the beaches of Florida where she grew up in the sixties. Fifteen years ago, Chey was sailing the Atlantic in antique sailboats. She cheerfully captained seventy foot yachts off the coast of Scotland. Ten years ago, Chey was a spy-in-training, about to head for the Australian Outback where she would often go off-roading and camping. She took up dune buggy racing and was one of the first American women to compete in the gruelling Finke desert race.

Then, about seven years ago, Chey’s health started to take a turn for the worse. It wasn’t one particular thing, but a series of apparently unrelated things, from joint pain to stomach ailments. Her gall bladder was removed. She had all manner of tests. Shoulder surgery. She grew increasingly tired, fatigued, and depressed; three conditions that really bothered her. They sounded so lame, vague, wimpy. But they were real. Fortunately, one of the benefits of a long-term, well-grounded relationship is that you get to know the other person really well. When Chey said she was in pain, I knew she was in pain. When she said she felt too tired to walk the dog or take out the trash, I knew she wasn’t being a slouch or copping out.

For Chey, basic things like holding down a steady job became increasingly impractical. She had to abandon plans to open her own art gallery because she couldn’t reliably predict how many days a week she would feel well enough to open the store. She tried other projects that could be performed on a more flexible schedule, like writing books (she wrote Network Security for Dummies). She was going to be editor of The 5th Edition of the Computer Security Handbook. But increasingly lengthy periods of poor health made such tasks impractical.

2007 was pretty bad and 2008 has been even worse. Her joints are increasingly painful. Walking down stairs is now difficult. At times her skin looks gray and she appears, quite frankly, to be a lot older than she is. More and more symptoms have manifested themselves but a series of doctors kept drawing a blank. At times we thought she might have Lyme disease, fibromyalgia, multiple sclerosis, and a bunch of other frightening candidates. Doctors did find thyroid deficiency. They suspected she was borderline diabetic. There was some muttering about liver enzymes being “slightly elevated but nothing to worry about.”

At one point this year Chey was hospitalized with severe stomach pains, given all sorts of tests, X-rays, and ultrasound, but then discharged with a handful of pain pills because: “All the tests come back normal. We can’t find anything wrong.” You wonder if doctors realize what that says to a patient. Here’s a clue: It says “You fraud, you’re making it up” or “You’re an attention seeking hypo who’s imagining things.” In other words, it’s really not good for a patient’s sense of self-worth and sanity.

Chey also experiences severe hot flashes where she suddenly turns bright red and, in a matter of seconds, sweat starts pouring down her face and neck. When these happen in public, some people stare. Others ask if she needs a doctor. Not surprisingly Chey has become increasingly reclusive. These flashes sometimes come as often as two or three times an hour, day and night, leading to sleep deprivation. Then sleep deprivation leads to mood disorders and depression. Not fun. Sometimes chey’s feelings of anger are matched only by her sense of exhaustion (a fact which probably saved the life of the nurse practioner who said to her, and I’m not making this up: “All women have hot flashes and anyway, you’re not working, so why not just take a nap during the day”).

I won’t go into all the knock-on effects of Chey’s ailments on our social life, our family life, and our outlook on life in general. Needless to say, they all took a turn for the worse. The fact that during this time we also lost our life savings in the real estate bust was almost a footnote. Life’s no fun if you’re sick, even if you’re rich and sick. Money certainly didn’t seem to be the answer to Chey’s health problems. Even when we had a bunch of money, doctor’s weren’t coming up with answers.

Then we found Dr. Beechy, or rather, we heard that Dr. Beechy was a good doctor and we signed up as her patients. Apparently good doctors are few and far between because it took months for Chey to get an appointment. And when she saw Dr. Beechy it was not diagnosis at first sight. Charts were studied. Blood tests were ordered, including one which used to be standard but was dropped from regular blood panels after a $200 million Medicare fraud case in 1997 suggested the test had too often been ordered superfluously.

But when we got that message on our answering machine it was clear Dr. Beechy had figured things out. She actually used the word hemochromatosis. Within minutes of listening to the message both Chey and I were Googling. We found hemochromatosis was iron overload and when we found the following list of symptoms of iron overload, we were stunned:

  • Arthritis, joint pain
  • Diabetes, high blood sugar levels
  • Early menopause, prolonged menopause
  • Abnormal pigmentation of the skin, making it look gray or bronze
  • Thyroid deficiency
  • Chronic fatigue
  • Loss of sex drive (libido)
  • Abdominal pain
  • Gall bladder issues
  • Low thyroid function (hypothyroidism)
  • Abnormal liver function tests, even if no other symptoms are present

That’s right! Chey had all of these. In one stroke, with one word–hemochromatosis–just about everything that ailed her was explained. Dr. Beechy’s message did not say categorically that Chey had hemochromatosis, but fortunately there is one test that’s pretty conclusive. It’s a DNA test. About 85% of cases of iron overload are caused by a genetic condition. About two weeks later the DNA test had been done and the results came back, right on the money: homozygous c282y.

During those two weeks we read everything we could find about hemochromatosis. One finding that had pointed Dr. Beechy in the right direction was Chey’s serum iron level, this is a test that used to be routine and in the nineties was credited with detecting hereditary iron overload in many patients even before other symptoms were present (thus allowing treatment to begin before serious organ damage occurred). Basically, if serum iron is high and TIBC or total iron binding capacity is low, then you have a clue that the body is retaining too much iron.*

Since Chey’s numbers were high and low respectively we pretty much knew that she had iron overload. And the good news about this condition is that it can be treated relatively cheaply, by drawing blood. The bad news is in three parts: A. Is the iron overload genetic in origin, in which case you have some bad news for your family? B. How much damage has your body suffered so far from the iron overload? C. How do you get the blood drawn?

We handled A with email and phone calls. We are now waiting on B and C. In about a week Chey will see a doctor who will check for organ damage and hopefully authorize blood letting, otherwise known as phlebotomy (for a series of reasons explained in the literature, simply “giving blood” is not so simple with this condition). Our hopes are high that her health will improve dramatically (we learned of one case where a forty year-old marathon runner was flattened by hemochromatosis, got diagnosed and cured and now runs marathons again).

Our fingers are crossed that Chey’s organs–liver, adrenal glands, pancreas and such–have not suffered serious damage. There are things that need to be ruled out, things with frightening names like hepatocellular carcinoma. But right now there is not much that can dampen the thankfulness we feel for, and the boost we have received from, a diagnosis of hemochromatosis.

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*Note: Do not use the information in this blog post to perform self-diagnosis. Check with your doctor before drawing blood or starting a low iron diet. The author of this blog post is not a medical expert and cannot answer medical questions including “Why don’t more doctors know about this disease?” In fact, the author’s main area of expertise is knowing precisely how much he does not know, however, he can recommend some informative web sites:

{ 11 comments… read them below or add one }

Bob Rogers December 1, 2008 at 1:41 am

Happy Thanksgiving… I am pleased to hear about your diagnosis because you are one more person who knows about this disorder and its risks. You now become an ambassador to create awareness about this silent killer. Awareness is the Cure!
Hemochromatosis is as common as you mention in any country where there is a large Celtic, French, Northern and Eastern European population. In addition to the USA, Australia, New Zealand, England, Ireland, Wales, Scotland, France and Canada (where the Canadian Hemochromatosis Society is).
I pray that you are spared any serious organ damage. Please advise your siblings, children and cousins that they need to be tested. In Canada, all your family would be entitled to go directly to genetic testing to determine if they have two mutated genes (HHC) or if they are carriers (one of the mutated genes).
Please have a look at our website and find us on Facebook. Many blessings this coming year. Keep spreading the word.

Bob Rogers
Executive Director
Canadian Hemochroamtosis Society

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stacy December 18, 2008 at 12:25 am

I have been experiencing all of the same symptoms: hypothyroid, rapid weight gain for no reason(doctors laugh at that), joint pain, fatigue, and gall bladder. I had to change docs due to health plan change and the doc did labs and found that I had elevated cholesterol(that’s new) and elevated liver enzymes. So I head back for more labs(7 tubes of blood) and tomorrow a liver ultrasound. I feel at times like I have totally lost my life..as if I’m the living dead. Before I was enjoying life, going, achieving and now just surviving. I actually googled all the symptoms I’ve been having tonite and hit on your blog. I have always felt that everything was related. This past April, my dad was diagnosed with unexplained cirrhosis(hope its spelled right). He was in the hospital for a week before he was released. He actually was grey. Then in Oct. of this year he was found on the ground outside. He had developed hepatic encephylopathy(another BIG word) where he was basically psychotic. I and my sisters actually had to take shifts by his bedside because he was restrained and kept breaking through the restraints. I work in mental health, but I can tell you that I have never had a similar experience. I am sooo hoping that maybe this will explain why I am feeling so crappy all the time. The depression and anxiety are the pits. Did I tell you I was scheduled for gall bladder surgery last year and had a panic attack and got off the pre-op table and left? Well I did. And I have lost two jobs-dream jobs because of my constant illness and fearfulness. I can tell you this definitely is not ME. I am so glad you chose to write this blog. Now I can tell my doc how I feel and go from there. The tests she’s running are most certainly a start. Please feel free to e-mail me or send me updates on Chey’s status or she can. I pray she becomes well.

Stacy

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Stephen January 30, 2014 at 9:20 pm

Good evening. I have been having these symptoms for years, and was diagnosed with depression a few years ago. And with that came the meds which I quit taking because of the physical pain that would start soon after. Like Chey, the insomnia started as did the sweats, followed by being irritable, and then headaches and pain in the joints in my feet.

After getting in over my head at work, and looking for relief in the wine bottle, I started to notice a few other things. I decided to quit, move home to TX, and just press the “Reset” button. After giving up the wine for the most part, I still just felt awful so I scheduled a physical with the doctor I started seeing when I was 14. My liver enzymes were really out of whack that I attributes to drinking too much, but the timing didn’t match. So, more blood tests and today I got the call that said “We need to do a DNA test, but hereditary hemochromatosis seems to be the culprit.”

Like you, I am Thankful because now I know. Now is just figuring out what kind of damage I have done. But everything happens for a reason. There is a reason I came home, and now have a couple of months before I start a new job. This job is the job I have dreamed of, and I can’t wait. But I am more charged about knowing I will walk in knowing I am not going to relive what I have for a few years.

Thank you for sharing your experience. I hope you will update us. Also, what was Chey’s liver enzyme count?

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Kay April 21, 2014 at 5:43 am

I am 63 year old female who was diagnosed a year ago after suffering a bout of diverticulosis. Gastro noticed abnormal lab results and began investigating. Thankfully she asked for serum ferritin level which came back 20 times higher than normal. Got DNA test which confirmed double stranded hemochromatosis. This was followed by 9 months of bi-weekly phlebotomy. Now get blood draws every 2 months. I have extensive joint damage along with many other maladies. Only wish this had been detected years ago. I too have been bounced around in the medical community and have felt hopeless. At least now I understand why my health took a nosedive about 20 year ago. I’ve passed it to my daughter but at least doctors are aware. I’m sad that others have suffered with this but also encouraged by their stories. Please persevere until you find a caring, informed doctor.

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Stephen Cobb May 3, 2014 at 1:11 pm

Thank you so much for sharing Kay. Each piece of sharing helps spread the word about this pernicious and widely under-diagnosed condition.

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Angela June 29, 2014 at 5:26 pm

I had difficulty being phlebotomized . The line would clot up and so multiple hematologists recommended the insertion of a surgical port. My brother (who also has hemochromatosis) found a solution on the internet. Take one baby aspirin one hour before your scheduled phlebotomy. Take a second aspirin fifteen minutes before. The aspirin acts as an anticoagulant. I have never had any further problems and spared myself from having to have a port.

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Stephen Cobb January 29, 2015 at 9:54 pm

Thanks for the tip, although one should always take aspiring carefully. Not everyone tolerates it well.

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Marivientos October 4, 2014 at 3:05 am

It baffles me that doctors at this point in time pay no attention to hemochromatosis.
It has been known since the late eighties and written about it!!
Mine was diagnosed then, without so many symptoms, after watching a morning show talking about the risks of having too much iron in your blood test, which was my case. Mentionned it to my doctor, was tested and voila!
I try to make people aware of it as much as I can. Doctors should know better, though.

I wish you the best and a real recovery.

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Matt January 16, 2015 at 10:20 am

When I was diagnosed with hemachromatosis my Feritan was at 1500 so it took 11 months of at least once a week phlebotomy and sometimes twice a week at 500 ml per phlebotomy. It’s alot time and blood but all of my numbers were normal afterwords. Now I have been getting a phlebotomy 4 times year for the last fifteen years.

That might sound like a lot but it is better then the alternative.

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Stephen Cobb January 29, 2015 at 9:40 pm

Thanks for sharing your story. That’s encouraging news for others who have this condition.

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Brooke Rose March 9, 2016 at 12:34 am

Omg thankyou so much for this blog! I resonated with almost every single point.
Discussing with my hubby he still thinks I’m just being a hyperchondriac and that hurts.
I’m so relieved to know why I feel like I do.
I’m awaiting my geotype test results so will go from there.
Can’t wait to feel normal again.
Thanks for sharing your story ????

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