OUR FAMILY'S SEARCH FOR ANSWERS ON HEMOCHROMATOSIS
[written by Cindy Munn 8/1997]
This is how our family has been affected by hereditary
hemochromatosis, abbreviated HH,
which is a genetic condition of iron overload. It is NOT a blood
disease. It is a condition of defective metabolism for iron. The
body lacks the ability to refrain from absorbing excess iron from
a regular diet. Unlike other nutrients, iron is not excreted. It
results in excessive iron being stored in the organs, resulting
in a variety of disorders: cancer, heart disease, arthritis,
chronic fatigue, diabetes, cirrhosis, impotence, sterility, etc.
Iron overload is lethal UNLESS it is detected & adequately
treated. It requires a person to inherit one HH gene from each
parent, to actually have HH. If you only have one HH gene, you
are a carrier. As reported by the Iron Overload Diseases Assoc.,
1 out of 8 people are carriers of the HH gene, & 1 out of 200
carries both genes. The lab tests that are used to evaluate the
iron status are: Serum Iron, TIBC, Transferrin Sat. & Serum
Ferritin. An iron level or hemoglobin alone, is not adequate.
My husband, Dave, is employed at the A-plant & once a yr., they do a very thorough physical on their employees. Their lab workup includes an iron & ferritin level, which your basic CBC or SMA profiles generally do not include. Being a nurse, & due to Dave's prior history of having cancer, I would always have him bring home copies of his labs from this physical workup. For 2 consecutive years, I noted that his iron & ferritin levels were increasing rapidly. When Dave asked the dr. about it, the response was, "quit taking your vitamins with iron & cut down on the red meat in your diet." I looked up in my lab manual to see what increased iron & ferritin levels could mean, & the word, malignancy, jumped out at me. The word, hemochromatosis, was also there, but I had never heard of it & cancer is the feared word of today.
Near this same time, in late 1993, my husband began complaining of chest pains, shortness of breath, excessive fatigue, & arthritic problems. It was feared to be his heart, since his father had a history of a 5-way by-pass & his paternal history was very significant for early death due to heart attacks. The first test done was a stress test, which indicated a possible problem, so we were sent to Columbus to a cardiologist. They performed a cardiac catheterization & declared him to have a very healthy heart & arteries. Still the chest pain, shortness of breath & fatigue persisted. Stress & depression, we were told could cause this. Well, depression was definitely occuring, due to the lack of finding the cause of his continuing problems. Dave, who is what I call a "workaholic" was getting to the point, where he couldn't find the energy to do his typical work routine. He was constantly tired, laying on the couch, having to rest frequently at work & would become so short of breath with very minimal exertion. Something was wrong, but the doctors just kept saying that his heart was fine & that it was part of getting older[at 37!] & due to stress, etc. More or less, learn to live with it!
Meanwhile, the increased iron & ferritin levels were being ignored. I also began to notice an "odor" about him that was especially noticeable right after he showered. It was sort of a metallic odor. His skin also began to turn a rusty, tan color & it was not from the sun. After going back to my lab manual again, I wrote down this "hemochromatosis" word & asked our family dr. how to rule out if that was causing his problems. Liver biopsy was the only way to know, so off we went to Columbus again & had a liver biopsy done. The results were positive for a diagnosis of Hemochromatosis & the gastroenterologist there, recommended phlebotomies, [taking off a pint of blood] until his iron & ferritin levels decreased, a treatment that he would have to do for the rest of his life.
So, finally, we had a diagnosis! But what was this "rare" thing that he had? And what did it mean for our future? Would he ever get better? Much to our dismay, there seemed to be little known about it. We were told that it wouldn't cause his chest pain & shortness of breath, so we still didn't know what to do about those symptoms. There were no support groups available. We were totally in the dark about this condition & it seemed even the doctors knew little about it.
I went to our medical library at SOMC & Andrea Arnett did a great job of getting me info. on HH. I devoured every word, looking for hope, for anything to help us understand this condition. We found that the chest pain & shortness of breath that Dave was experiencing, could indeed be associated with HH. We read that it probably was also involved in his thyroid dysfunction, AND that it causes early death, if not diagnosed & treated soon enough. The literature said that it can cause heart disease, liver &/or pancreatic cancer, diabetes, arthritis & more. We learned that it is autosomal recessive, meaning that Dave had to have inherited a HH gene from each parent, which further indicated that his parents could be affected, as well. His grandfather had died from pancreatic cancer, his grandmother of a heart attack, his uncles from heart attacks; they probably were affected by HH but were never diagnosed.
Over the next 3 yrs., Dave went for his bloodletting ritual at Mercy Outpatient Care Center, starting out at once a week, & gradually progressing to every 2 weeks, etc. until he was "deironed." Now he is being maintained at a bleeding every 1 to 3 months at the Portsmouth Cancer Care Center. His symptoms of chest pain, SOB, joint pain, etc. gradually lessened, as the phlebotomies continued. His energy level returned, not to the level that he was accustomed to, & it never will, but at least he could become a productive person again!
Then in Feb. 1997, we went for a checkup with a dr. at OSU in Columbus, just to make sure that we were doing all that was necessary in the treatment of HH. This dr. informed us that there was now DNA testing available to check for HH in family members & encouraged us to have the family tested. These test results came back with a surprise, that I was a carrier, & our 7 yr. old son, had inherited a "bad" gene from both of us! For the sake of simplifying this, we were back to square one, due to the lack of knowledge of treating children with this condition.
Thanks to zoomnet & the internet, [I had just gotten online in Dec. 96], I was able to meet up with Sandra Thomas. She was able to give us much help & support & is very actively trying to educate the public on HH. [Sandra is now president/founder of The American Hemochromatosis Society.]
We ended up in Philadelphia, Pa. at a Hemochromatosis clinic, at the University of Pa., looking for treatment for our son. They retested us with the DNA testing, as OSU, apparently, had only tested for one mutation, and the clinic reported that there are 2 that are now indentified with HH. The 2 mutations are identified as: Cys282Tyr, also known as C845A, and His63Asp, also known as C187G. Our final results were that our ENTIRE family has now been diagnosed as being affected with HH!
Here are our stats & DNA results to give you an idea about our family:
**Dave 40 yrs. DNA 845/187 [called a compound heterozygote]
**Cindy 37 yrs. DNA 845 carrier
**Stefy 20 yrs. DNA 845/187 [compound heterozygote] [She is donating blood occasionally to keep her levels from ever going out of normal.]
**Becky 19 yrs. DNA 187 carrier
**Andrea 9 yrs. DNA 845 carrier
**Robby 7 yrs. DNA 845/845 [called a homozygote] Robby was diagnosed in Feb. 97. **Please see the article, "Like Father, Like Son" for an update on his condition.
Dave's parents are both carriers. My mother is a carrier, my dad is neg. My 2 sisters tested negative & my sister in law is a carrier. All family members, down to 1st cousins are urged to be tested, once a family member is diagnosed with HH. Dave also has a 2nd cousin, once removed, who has tested positive as a carrier. We just recently found out about another cousin, who died 3 yrs. ago, and who, sadly, was diagnosed with HH at autopsy. He was only 38 yrs. old. It is definitely running through our genes!
So, we have quite a family affair of HH! We are grateful that everyone in our family has been diagnosed so early & without alot of organ damage. We give praise to God for the early diagnosis & the chance to help educate others about this condition that is 100% fatal if not diagnosed & treated early.
Through Sandra Thomas, we also found out about a new method of DNA testing through "cheek brush" DNA sampling in your own home for HH. My parents, inlaws & sisters all have been tested, using this method, which is as accurate as blood sampling.. Everyone with a family member with HH is encouraged to be tested with the DNA testing. It will be saving many lives by giving an early diagnosis of HH to affected people, so that they can prevent the iron overload & toxicity to vital organs in their body.
Following is the info. on the labs from which you can order the home collection test kit:
Michigan State University[MSU]
Phone 1-877-TEST DNA [837-8362] or 517-353-2032.
They also host a great website on HH: http://www.phd.msu.edu/hh/hemochromatosis.html
My husband calls it an "obsession" that I have now,
with educating people about HH. I call it my mission. But
whatever you want to call it, there are people in our community
that are affected by HH, yet are undiagnosed & overloading
iron as we speak. The lack of education by the medical community
& the public astounds me. What once was considered the most
rare genetic condition, is now known as the most common genetic
condition, yet it is being missed. We need to get informed on
this, start doing some iron screenings & find these people BEFORE
damage is done, BEFORE
early death occurs as a result.
I strongly urge all doctors to begin screening the iron status of their patients. I encourage patients to ask for an iron screening & become involved in their healthcare. If anyone has internet access, the AHS website is invaluable for information on iron overload. Their web address is: http://www.americanhs.org . Sandra Thomas would love to hear from you & her email is firstname.lastname@example.org She is also organizing a project for children with HH & would like to hear from families with children that have been diagnosed and/or from doctors who are treating children with HH.
I would like to thank Dr. Greg Hudson & Dr. David Provaznik for their willingness to learn more about HH & for effectively managing the treatment of our family. I want to thank Dr. Stanley Balcerzak & especially, Dr. Kelly Cawley, at OSU, for alerting us to the availability of the DNA testing! Dr. Cawley is a great asset to OSU! A special thanks, also, to Dr. Chris Friedrich & Jennifer Farmer, Genetic Counselor, at the HH Clinic, at the University of Pennsylvania, for the kindness & compassion that they have shown for our family & for Robby. A big thank you to the genetics staff at Michigan State University, & Annette Taylor, at Kimball Genetics, for providing the DNA cheek brush testing to the public at such generous rates. And a special thank you to Sandra Thomas, from the AHS, who has became a friend through this. She volunteers her time for this great organization & my family would not know what we do today, if not for her! May God bless you all for the part that you have played in the healthcare of my family. But most of all, I praise God for the way everything has worked out for us. Without Him, we are nothing.
www.munnfamily.net email: email@example.com
update as of 12/2001
Dave is in maintenance phlebbing about 3-4 times per year. Physically, he is doing well, except for coping with some arthritic problems. Cindy [me] still has an iron profile WNL. Stefany has had bariatric weight loss surgery & is now iron deficient as a result of it. Her spouse tested genetically negative, making their son a carrier from his mother. Becky remains iron deficient, her husband tested as a HIS het. & his iron profile is borderline. Their daughter tested as a HIS het. Andrea's iron profile remains WNL. Robby is being maintained with about 1-2 phlebs. per year. The carriers in the family have their iron profile checked annually. Many cousins in Dave's family have been identified as being positive for the HH mutations.
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