It was eight years ago when my doctor told me that my iron levels were high. He referred me for further testing which included an ultrasound to look at my liver because it was enlarged. The report came back indicating there was fatty infusion in the liver. I was devastated and scared because I knew what the implications were; that I was an alcoholic.

Alcoholism runs in my family, my Irish grandfather died relatively young from alcohol abuse. (I often wonder if he had hemochromatosis as well, which hastened his death from liver disease.) My uncle and brother are alcoholics, so I was concerned. I was a social drinker, at the time, enjoying going out with friends and not drinking to excess. If I had any more than 2 - 3 drinks at one time, I would be sick the next day. I knew I was drinking very moderately. I spoke to my wife, who is a social worker and asked her about my drinking habits and she agreed that I did not abuse alcohol. She added that if I did she would have intervened.

My doctor told me that I was drinking too much and that I needed to stop. So, I did. At the same time he referred me to a liver specialist who confirmed that the only reason that I had increased liver enzymes and a fatty liver was excessive alcohol use. He said that he could do a liver biopsy to see if anything else COULD be happening.

The thought of a liver biopsy was frightening and it did not appear that it was necessary, so I said no thanks. After several months of abstaining, I was retested. The liver tests did not return to normal, as I had hoped and the doctor was confused. He had tested me for hepititis, which was normal, and he added that the liver levels were too low to suggest hepititis. He indicated that I was still drinking, which I denied. I was faced with the reality that my doctor did not believe me and that I must be in denial. My doctor then advised me to lose weight as this may be having an effect on the liver. Apparently, my triglycerides were also elevated.

Each year I returned for a checkup the liver enzymes were still elevated, although the liver had returned to normal size. I asked the doctor if there was something else going on that could me affecting liver function and I got a 'NO'. I asked if I could have any genetic problems affecting my liver and could I have a 'weak' liver. He said no, and kind of laughed off the possibilty.

At the same time I came across an article on 'The Iron Man' who was diagnosed after setting off metal detectors in the airports. I thought that maybe I had this disease. Unfortunately, I did not convince my doctor. I will admit that I should have been more assertive with my doctor, which I was not.

I returned to my social drinking as the liver had returned to normal and the specialist felt that this would not be a problem. My drinking consisted of 1 to 2 beers every 3 to 4 weeks. I returned to my doctor in February of 1996 and the first question out of his mouth was, how is the drinking? I was frustrated and angry that I was obviously being branded as an alcoholic! He then reviewed my lab work and again the liver enzymes were elevated.

I told him that I was not drinking a lot. His reply was , what is a lot? He said, "look, you are drinking too much and that's that. When I told him how frequently I drank and that I hadn't had any alcohol for the last 6 weeks, he replied that I was in denial. He added that I drank everyday and that this was the reason for the problem. I said, look doctor that has never been a drinking pattern ever in my life, even when I was in my twenties.

This finally sparked my assertiveness and I told him that he needed to find another reason for this problem right now, instead of considering it alcohol abuse. I told him that I had been reading about hemochromatosis and wondered if I had this disorder. He reminded me that I had raised this with him before, but he had disagreed. However, he agreed to send me to another specialist and referred me.

I walked into the specialist's office. He looked down at my lab results and said, "YOU HAVE HEMOCHROMATOSIS, I just need to find out if you are homozygote or heterozygote." I was amazed that all he had to do what look at the results and provide a diagnosis. My doctor had always seen the same information and could not! He added that my ferritin level was 1800 and that my percent saturation was 90%.

Finally, after 8 years of fatigue, joint pain, and illnesses, I obtained the correct diagnoses. (I realize now that any alcohol consumption before being treated can cause this disorder to hasten the progression and have since eliminated any drinking.)

After receiving the diagnosis the specialist said, "You are lucky that your doctor recognized this and got you to a specialist." I strongly informed him that I had made the diagnosis and that my doctor thought I was an alcoholic. The specialist stated that alcohol had nothing to do with this, only in speeding up the effects.

To confirm the diagnosis, I underwent a liver biopsy and the result confirmed that I was a homozygote hemochromatosis person, which meant that I inherited the disorder. He sent me back to my doctor for phebotomy treatments. Unfortunately, I had no confidence in my physician. It was apparent that I knew more then he did, as I was doing a lot of reading and he was not! He referred me for only 4 treatments! I knew better.

I referred myself to a hematologist with experience in this area. He stated that I needed at least 40 treatments just to get the ferritin down and hopefully out of storage. After each treatment, some twice a week, I began to feel better and even looked forward to the phebotomies! I was reviewed in October and found that for the first time in 8 Years my liver enzymes were normal, the ferritin was down to 20, and I was out of immediate danger.

Thank God for a specialist who knew what he was doing! Unfortunately, however, my recent blood work revealed high sugar and I have now been diagnosed with borderline diabetes, treatable with diet.

Patrick J. Bloom/Illinois

SOMETHING GOOD ABOUT HEMOCHROMATOSIS

My mother was diagnosed with hemochromatosis. She had some liver damage, so this tipped off the rest of the family to get checked. Sure enough, my blood tests pointed toward hemochromatosis and I checked into the hospital for 24 hours to get a liver biopsy.

Here is the good part: I met my wife to be. She was one of the nurses who were attending to me during my stay. In spite of those ill-fitting hospital gowns, being unshaven and my bed pan, I must have the gift of gab because I managed to get a date with the cute nurse. We got married a year later. I have since been de-ironed and am coming up to my third anniversary.

Without hemochromatosis, I wouldn't have met my wife. So that's good, Right?

SASpecht@worldnet.att.net

Mother Diagnosed at Autopsy.....

My mother died at age 58 twenty years ago this year. She was diagnosed at her autopsy with hemochromatosis. Without the autopsy her death would have been considered due to "congestive heart failure." Her diabetes, arthritis and liver damage were considered completely separate health issues by her doctors. Twenty years ago, her doctors told my dad and me that the MOST COMMON genetic disease in the Northern hemisphere was "rare" and that "women never get hemochromatosis!" That was because the doctors did not know what some specialists know now. I say SOME specialists...unfortunately, too many doctors still think like my mom's did twenty years ago. My dad said that my mom told him, "I have a metal taste in my mouth, I think I'm being poisoned..." She knew better than the doctors did.

My first attempt to get blood tests done for ferritin and percent iron saturation were a fiasco! My primary physician advised against it (even though my mom's sister was undergoing phlebotomies because she also had hemochromatosis...) I finally persuaded him to do it. When the results returned, I asked him for the numbers. He just said, "Don't worry, they're fine." I made him give me a copy of the lab results. He failed to compute the percent saturation correctly. The TIBC and serum iron came out to an 85% saturation!! I demanded a second opinion. The second doctor right away knew to send my blood work to a different lab and the results were 55%. This was just 6 years ago!!

As soon as I knew about the availability of the DNA testing for hemochromatosis my brother and I were tested. We got the results early this year and have learned that we are both carriers for the hemochromatosis gene. The professional health care industry has done very little to help my family deal with this disease.

I find myself sharing this information with people where ever I go. We must have routine, universal screening for hemochromatosis now. If there is anything I can do to help increase awareness about hemochromatosis, I will do it.

Enid Fox