23andme How to DECODE YOUR RESULTS.

http://rickssnp.weebly.com/23andme-results-reader.html
Here is the personal website of a Facebook friend which offers a great explanation on how to decode the mysterious report you may have received in you genetic testing results from 23andme.com.  Rick’s site also offers valuable advice on Hemochromatosis. 

The 23andme.com site offers ancestry information along with genetic testing. Many other websites offer genealogy testing only. If you are looking for results for many inherited diseases 23andme.com IMO is the higher priced option ($199) test offers genetic information better way to go. They offer a standard test for ancestry information for $99 also. 

http://rickssnp.weebly.com/23andme-results-reader.html
https://www.23andme.com/
(I am not affiliated with either website posted above.)

RUSTICLES

Hereditary Hemochromatosis is too much iron in the human body. It is the equivalent to a rusty boat sunken at sea. At sea rusticles are formed as the wrought iron begins to oxidize in the water.  It is a bacteria slowly eating away at the metal. Too much iron accelerates mitochondrial decay and inflicts system-wide free radical damage to healthy tissues. Oxidation caused be too much iron is eerily similar to rusticles slowly eatin away metal under water. Imagine having a knee or wrist caked with rusticles? It doesn’t work well when used because there is swelling of inflammation in the synovial fluid inside a sack surrounding each joint.  When the pain becomes too bad joint replacement removes the old rusted joint replacing it with an artificial joint. How about a brain filled with rust? It is not able to function well cognitively. The nerve cells are covered with rust eliminating the nerve pathways. Often times Hemochromatosis is discovered in the brain during an autopsy.

Many years ago I began storing iron rapidly despite dietary changes; removal of all alcohol, red meat and foods enriched with iron. My life as a rusticle has been a painful one. All joints are inflamed. I live with chronic severe asthma ( just as my father did…..). It scares me. My mother has dementia. That also scares me.

The funny thing about the metabolism of iron overload disease, the movement of iron within the body. It travels among the soft tissue; joints, brain, arteries, heart muscle, etc. causing unseen damage or death. Heart attacks and strokes (more common in the gene type I have- H63d homozygous) can be caused by iron stores within the body.  I ran into a maternal first cousin who was talking about his knee replacement. I attempted to discuss Hereditary Hemochromatosis with him but he didn’t want to hear about it. He didn’t take me seriously. Just as my own family has done despite providing proof via my genetic testing along with an easy to read book about Hereditary Hemochromatosis.

Having a genetic disability is something I could have easily chosen to treat quietly and not share. I chose to share the disability in an effort to save lives. Once you begin telling lies, then the un-truth takes a life of its own. The next generation begins getting sick from too much iron. My 3 children each carry one defective gene. My nieces and nephews also may have one or two defective genes depending upon the any paternal defective gene mutation. That alone won’t cause problems assuming they only carry one defective gene for Hereditary Hemochromatosis. It’s their children that we should be concerned with.

It time to tell the truth and stop glorifying a lie. Read this post WASHINGTON POST ARTICLE  My initial symptoms were similar when I was first diagnosed. It explains why everyone ran away.  I was too tired, depressed from having an undiagnosed illness. Mental health still carries a very heavy stigma? It shouldn’t be treated as something shameful. Yet it is.  Twenty years later not a single one of my siblings have inquired about my health. This includes 2 separate cancer diagnoses.  Are they afraid HH is psychiatric and not a “real” disease? I guess I will be attending funerals sadly.

 

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. 

🍀 13 Symptoms of Too Much Iron

A LITTLE MORE INFO TOO MUCH IRON (or too little iron; anemia)

(I am a post menopausal woman. What I describe is my own personal journey  for an accurate diagnosis followed by  maintaining my iron level in a healthy range. Please use my information as a beginning. Add it in your own conversation with your doctor.) 

If you and I are related by blood you ABSOLUTLEY SHOULD be discussing your family history of Inherited Hemochromatosis! Sister Nurse is incorrect in her ‘professional opinion’ regarding management of my Inherited Iron Storage  Disease (Hereditary Hemochromatosis). Blindly placing faith into an uneducated person provides a absolute basis of failure.

As iron accumulates in the body the follow symptoms may accure:

BRAIN FOG (rusting caused by the abundance of Iron freely mixing within a contained area is the perfect breeding ground for inflammation.)
Fatigue ( Red blood cells filled with Too much Iron prevent oxygen from reaching organs.)
MOOD SWINGS; especially ANGER- the body is under constant fight or flight survival. Excess iron particles form sharp daggers-like accumulations in joints and organs. The body attempts flight for survival. “Let’s get rid of this iron crap!” It’s a fight for survival and the instinct to battle the ever accumulation iron stores is continuous and very real battle for life or death. This is a real disease with real physical symptoms. 

DIGESTIVE PROBLEMS as iron builds-up in the gut. (After many years of living with Too  Much Iron the digestive track believes all nutrition is harmful. It does not absorb any good or bad nutrients.The 1 constantlyabsorbed nutrient is the only one not needed, Iron.

ANXIETY (constant oxytivate stress of cells is also known as living with rust inside your body.  Reimagine your body as an old car; a Model T. Every morning you awaken your body by turning the crank just to function. Your blood has turned into rusty sludge in the hours of sleep. Do you think that sludge is going to automatically turn back into free flowing blood with a single crank? No. It hurts and it causes stress!  Hence anxiety does exist but can be managed. Notice I did not write ‘cure’?
DEPRESSION (yes, it is sad living with chronic disease. I’ve since been diagnosed with Fibromyalgia, Breast Cancer and Graves Disease; hyper thyroid.  Similar to Anxiety, depression can be managed. 
FARIGUE AFTER MEALS (insulin resistance) (the pancreas is usually one of the first organs to be bombarded with Too Much Iron.)

MEMORY LOSS (exhaustion from all of the above can cause Memory Loss. It can be managed. 

JOINT PAIN ( the synovial fluid inside the sacks surrounding each joint is a warm and inviting host for excess iron. Once inside the iron particles join together forming hook or beak like creatures with the formal medical term of ‘pseudo-gout’. Similar to Gout but since there is not any uric acid involved as with gout, the term ‘pseudo’ or mimicking every detail of true gout. Treatment for Gout is dietary. The only treatment for Pseudo Gout is after the pain becomes further advanced the joint maybe replaced.)
WEIGHT LOSS/GAIN  (Personally my weight has increased from inactivity of the disease. Iron is EXTREMELY heavy in the bloodstream so it forces the heart to work harder as it pumps.)

HEAVY METAL pumping through your blood vessels resulting in blood pressure changes and more inflammation in your arteries. TOO MUCH IRON is painful and it is exhausting!
Taking an extra tube of blood during routine labs for a Ferritin Test is a simple and easy request. Every patient, even not at risk of Hemochromatosis, should request it of their healthcare provider. Too little ferritin could explain the same symptoms. Remember Ferritin is a binder. It attaches itself to iron.

Too little ferritin could signal anemia. 

Too much ferritin could signal Hemochronatosis.

TOO extreme IN ANY BLOOD TEST is important! Blood work should be interpreted over a range of years. A slowly climbing ferritin blood test over several years could be the beginning of Hemochromatosis. A declining test rate could signify anemia developing. Either way your medical professional should be paying attention! 
Abdominal pain
Hair loss
Congestive heart failure
(Male only- low sex drive. Iron stores in testicles!)

Yes, many of the symptoms caused by having  Much Iron could also be psychiatric symptoms. The iron should be removed before psych meds are used. Without a list of ingredients Taking an anti depressant or anti anxiety medication could add iron! It could cause liver problems. It’s wise to have this discussion with your HH Doctor. 

It’s also possible there is overlap of symptoms. Treat each one until it clears. I will be breaking down symptoms individually over the coming weeks. 

Iron is EXTREMELY heavy in the bloodstream. It forces the heart to work harder as it pumps. Heavy metal pumping through your blood vessels resulting in blood pressure changes and more inflammation in your arteries. Yes just like an old rusted car.
Taking one extra tube of blood during routine labs  could save your life! When should your Ferritin be checked? The test timing varies on age, medical history, etc. do start the conversation with your primary care medical team early on rather that when its too late. A Ferritin Test is a simple and easy to request. It is just an addition tube of blood!  Every patient, even not at risk of Hemochromatosis, should request this test of their healthcare provider. 

 A slowly climbing ferritin blood test over several years could be the beginning of Hemochromatosis. A declining test rate could signify anemia developing. Either way your medical professional should be paying attention! 

AUNTIE MABLE’s LITTLE BOTTLE OF BOOZE 🍀

Here. Is s great example of how Hereditary Hemochromatisis is overlooked. It is easier to look at what is on hand; an apparent drunken patient who strongly denied alcohol abuse. 

https://www.washingtonpost.com/national/medical-mystery-alcoholism-didnt-cause-mans-diabetes-and-cirrhosis/2011/05/19/AGd0hdTH_story.html

“She must be lying about how much alcohol she is using!” 

Aa alcoholic can easily forget how many bottles of beer they have had or how much they have had to drink. Someone with Hereditary Hemochromatosis can present upon arriving at the emergency room as someone very different than that of someone in desperate need of medical detox. The last thing needed is a bed in a locked unit. Once the disease of too much iron is caught it might be too late.