My PERSONAL STORY – HEREDITARY HEMOCHROMATOSIS 

Its obvious I’m not an artist. What I have diagramed is my own family history from what I know. Its a given because of my own genetic testing (positive for homozygous H63d Hemochromatosis genetic defect.) the above diagram is accurate. Personally I believe my father (passed age 84 January 2016) was also was homozygous. Given his medical history of 3 (each!) hip joint replacements, chronic asthma and the fact that he set off metal detectors at the airport. I am certain he had one as does my mother. I almost certain Dad had two Hereditary Hemochromatosis genes. Shortly before his death he said he didn’t believe in “all that stuff” (regarding Hereditary Hemochromatosis) but he had heard “something” about it. I sensed he had been through enough of pain and medical procedures. It was the night before he was admitted into the ICU to be medically induced into a coma for pain relief due to a severe shingles infection. He passed away shortly after.  

Anonymous family.
Names and faces changed to protect the family.
I didn’t have to share my disability. I did so hoping the fact a serious genetic disease within my immediate family was ignored. It was (and still is) considered not a problem. To me it seems silly to cover up something so serious. When I look at all the symptoms too much iron in the body causes (and has caused) in my own health and what I know from family history it has caused many medical problems easily avoided with treatment. 

A quich science lesson: We all carry 2 genes in our chromosomes for certain traits, eye color is one often discussed. Blue eyes or brown eyes? Two brown eyed parents should have brown eyed children. Right? Not exactly. If each parent carries a non dominate gene for blue eyes it is possible for a blue eyed child to be born. My parents both have brown eyes. Another sister and I have blue eyes, two of six children. My paternal grandfather had blue eyes. My mother obviously carries the non dominate gene for blue eyes. The hemochromatosis genes follow a similar genetic pattern. It can be carried for generations without being seen. It only becomes dominant when both parents give the gene to their child. If one parent is homozygous (carries two defective genes) while the other is heterozygous (carries only one defective gene) children born can have either one gene or two genes. They cannot be free of the defective gene. Taking it a step further, if both parents are homozygous (two) defective genes (just as if both having blue eyes…..with certain exceptions. Lets just leave that part out but keep reading.) offspring born will all carry two copies of the defective hemochromatosis gene. This is science fact. Taking it one step further….not all those with homozygous (two) genes will go on to develop symptoms of iron overload and need treatment. However just like the unexpected blue eyed baby born to generations of brown eyed parents, the gene (s) undiagnosed hemochromatosis can rear its blue eyes. My point if you are still reading….. if a family member says they have been diagnosed (or is carrying) one or two genes for hemochromatosis run, don’t walk, to you primary care physician. Request a full iron panel be done with your routine lab tests. If you are afraid of having the black mark of a loved one’s diagnosis of iron overload on your medical records? Don’t fear there are companies that anonymously test for disorders like hemochromatosis. Your swab the inside of your cheek and mail it in. Several weeks later you get the results. What you choose to do with your anonymous results is completely up to you. 

Treatment if your iron panel should show you are loading iron? If caught early enough is through removing the iron in your blood. Technical name; a therapeutic phlebotomy. Yes, its the same thing as the Red Cross and other blood donation organizations do. Excep a therapeutic blood donation may ne done more or less than the guidelines for an average adult donating blood in general.

Science lesson is over! If you cant tell i just barely squeaked through with a B+ to remain a Deans list student. If I had only known in college what I know now i would have paid more attention. 😉

Returning to my childlike drawing above. My number one symptom? I had bronzed skin since I was give iron supplements while pregnant with my youngest child. Honestly I do believe my earliest non-specific symptoms began at this point. Exhaustion, unexplained liver enzyme tests which were out of balance, hair loss and depression. They went on unexplained for years. I was labeled “crazy” “making it up”and “it was all in my head/psychiatric”just to name a few descriptions by my loved ones. Other symptoms? Type 2 Diabetes, Heart attack (at age 40??), Dementia, Athritis, Depression, Insomnia, Exhaustion, Asthma (leading to CPD!), Malaise, Brozing of the Skin, Hair Loss/Alopecia,  Blood tests /Liver Enzymes/Blood Work All Not Normal. These are just few. 

 In the above diagram my older sibling, a sister, Mary Margaret, passed away at age 14. She had bronzed colored patches on her face. (I also had bronze patches on my face which went away with treatment.) She died in 1972 before Hemochromatosis was widely thought to exist. Testing only became available in 1996. It was known in the medical field. Iron panel testing was done if suspected and treated with therapeutic phlebotomy just as today. It just was not considered as  prevalent as is known today . Her death certificate states a heart virus (primary) along with pulmonary pneumonia as the cause of death. After researching I believe she could also have had homozygous genes for hemochromatosis. This is my opinion only. 

Its a given one child in four will inherit both genes of carrier (heterozygous) parents with hemochromatosis. Carrier parents have one gene each. It is also possible for two offspring to carry both genes of heterozygous parents. It is more likely one of my parents is a homozygous (has both genes) carrier. I will never know. Mom has dementia (also a symptom of Hemochromatosis!). For reasons Ive already stated, the disease of Hemochromatosis will claim more lives since it is not taken seriously in my own family. I can only share what I know. I cannot get anyone else to take it seriously. when They still consider me and the fact that I am being treated for two the defective genes I inherited from my parents as “crazy” “making it up” and “psychiatric origins/not credible”. Lets see who believes and we will see who dies an early avoidable death? 

In the general population how many “crazy” relatives have you heard of who might have actually had an unknown/undiagnosed genetic disability?  

Author raises hand and waves madly!! ME ME ME. I think my blood relatives aren’t afraid this crazy genetic disease as much as they are of eating their own words? I placed myself and the diagnosis of a genetic disability out there because I honestly thought it would help define a new generation with a manageable condition. I was met with ignorance and discrimination. HH and other newly recognized genetic conditions can still destroy a family one generation at a time. It doesn’t matter how much money you have or how high your flag is planted on a hill. Hereditary Hemochromatosis will kill if left unchecked. 

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