The 1.7 Million Faces Of Iron Overload: Patty Heckman’s Heartbreaking Story of Loss… And Lives Saved!
John and Eric are my twin brothers. Eric died of iron overload aka Hemochromatosis. John lives thanks to Eric. The pain of losing a brother is devastating. As a nurse, it’s even harder since the answers to his survival were close at hand, but hidden from my view by a broken system. Simple blood tests could have caught this disease early when it was very treatable, but the tests are not part of routine blood screening in America. I’m sharing Eric’s story so that you will help push for change and others will not have to suffer and die.
Everything changed the night of October 24, 2012.
“Eric is dead! Aunt Patty, Eric is dead!” My sister screamed into the phone. She was so hysterical I couldn’t understand her. A minute later my niece called. “Aunt Patty, Uncle Eric is dead.”
My immediate reaction was, “God No! There’s been a mistake.”
My son, James drives me right over to my brother’s house… and sure enough there is the paramedic truck, an ambulance, and police. The police won’t won’t let me see my brother. His identical twin, John, is out front with my sister and we are being held off. I can’t believe what I’m hearing. If only I can see my brother everything would be alright.
I can’t remember a worse night in my life. There was no reason, no explanation. The LA coroner would have to give us answers. We’re told it will be months. They are shorthanded and back logged. John, Eric’s twin, and I head home to tell our father. More disbelief. His second child, dead!
As the family and friends gathered to celebrate Eric’s life, we decided to have a second autopsy.
That one decision literally saved our lives. The LA Coroner came back to us in January with a cause of death -Diabetes and Ketoacidosis. A week prior to his death, Eric had lab work done showing a blood sugar of 292 and 4+ Ketones. He was given Metformin and told to take half a pill. He left work early because he didn’t feel well and died early the next morning. More questions, no real answers.
Later in February we get the results from the second autopsy: Hereditary Hemochromatosis!
Doesn’t that mean we could all have it? Hereditary means it was passed on to us. There was a good chance another one or two or three of us has it. There were 6 of us after all. Not only us, but 30 cousins could also have it. Have they had problems? Has anyone else died?
Wait, Cousin Jinny died of liver cancer and Cousin Jimmy died of a liver related illness as well. I remember from nursing school that Hemochromatosis is a condition where the body retains iron in the organs.
I need to get the word out. I call some and I email others. I Facebook as many as I can. At one point I spoke with my Dad’s sister, who told me she got checked. I asked her if she was a carrier and she stated to me that her doctor told her her Hemoglobin is 14 and she was fine. I tried to explain to her that she may be fine, but her 2 boys could be at risk.
All of my siblings are carriers. John, Eric’s identical twin, has the disorder and is positive for two copies of the C282Y mutation in the HFE gene. He was found to have a ferritin level of over 6000. (very high danger zone) A normal ferritin range is 20-220. organ damage sets in above 1000.
The second autopsy showed Eric to have iron deposits in his pancreas, liver, adrenal glands, thyroid, heart and lungs.
But what does it mean and how does it kill?
Hereditary Hemochromatosis is a hereditary disorder of metabolism involving the deposition of iron containing pigments in the tissues that is characterized especially by joint or abdominal pain, weakness, and fatigue and that may lead to bronzing of the skin, arthritis, diabetes, cirrhosis, or heart disease if untreated.
The Mayo Clinic further defines HH by stating it causes your body to absorb too much iron from the food you eat. The excess iron is stored in your organs especially your liver, heart, and pancreas. The excess iron can poison these organs leading to life threatening conditions such as cancer, heart arrhythmias, diabetes and cirrhosis.
Because it is an autosomal recessive condition, siblings of individuals who have HH are at a 25% risk to also be affected. Blood studies should include transferrin iron saturation and ferritin concentration to confirm the diagnosis. Genetic testing became available in 1996 and is a reliable method of diagnosis. This is the same year Medicare stopped paying for Ferritin levels on a Complete Blood Count. They unbundled the tests, essentially dooming countless lives and setting back diagnosis and adding to healthcare costs.
The first signs of symptoms are often from organ damage. They include; joint pain, diabetes, loss of sex drive, impotence, and heart failure.
I believe the first signs my brothers encountered were the bronzing of their ankles and toes. They each went to a dermatologist and they were each given “salve” to put on the rashes. The first doctor I spoke with about Hemochromatosis was my dermatologist. I gave him 2 books I found very revealing on the subject. He stated to me he read about Hemochromatosis during his medical training, but hadn’t given it much thought until he saw me reading “The Bronze Killer” by Marie Warder.
This was a very common statement from physicians I have spoken to about this disorder. My brothers also presented with early hair loss and periodontal disease. Each of these symptoms was attributed to familial traits rather than specific symptoms of HH. We had no idea what the totality of symptoms meant.
Iron overload diseases afflict as many as 3 million people in the USA with 1.7 million undiagnosed and 1 million diagnosed too late or only after life threatening illnesses have set in.
Men and women are equally affected by HH and most commonly presents in patients between the ages of 40-60 years since it takes many years for the body to accumulate excessive iron.
Diabetes is present in up to 60%-80% of Hereditary Hemochromatosis patients and is often the initial manifestation of the HHC disorder. It usually precedes the diagnosis of hemochromatosis. The pancreas can acquire an iron load of as much as 50 times normal.
“Iron accumulation has been correlated with retinal neurodegeneration.” “In age related macular degeneration, increased levels of iron have been found on autopsy in AMD affected macula’s as compared with normal maculas.” Macular degeneration is the leading cause of blindness in people 60 and older.
“The accumulation of iron in the brain can cause early on-set of Parkinson’s Disease along with other neurodegenerative diseases like Alzheimer’s, amyotrophic lateral sclerosis, epilepsy, and depression.” Too much iron in the brain causes changes in the vascular capabilities.
“For more than 70 years evidence has been accumulating that elevated iron initiates and promotes cancer cell growth.” In addition to initiating the cancer process, iron can bolster the growth of cancer cells by suppressing host white blood cell defenses. Liver and colon cancer have been found at a higher rate in individuals with HH.
The treatment for iron overload, although it can be grueling, is rather simple. One simply donates a pint of blood. The frequency is determined by how high the ferritin and iron saturation levels are at the time of draw.
Eric’s identical twin, John has given a pint of blood a week for over 19 months. His hemoglobin has changed from 16 to 14, but has not varied any further. He has continued to work a full time job, engage with family members, and live life as an active participant. He looks great, and we never thought he looked ill, but of note is that the gradual change in appearance and the gradual degradation of health can be easily dismissed as normal affects of growing older.
As for Aunt Dorothy, I explained to her hemoglobin is not an indicator for HH. Physicians repeatedly have used this test to put other family members as ease. My Brother John’s hemoglobin after a year of weekly phlebotomy has not strayed from 14. We have found physicians don’t know what tests to order.
Please don’t let your physician off the hook by telling you that you are fine after a normal hemoglobin test was performed. Ask specifically for a Ferritin level and an Iron Saturation percent.
My brother was 47. At autopsy he was found to have iron in several organs. Weeks before his death he had complained of fatigue, thirst, and shortness of breath when climbing stairs. He saw his physician and had labs drawn 1 week before he died. I wonder if his physician had put the symptoms together, if he had noticed the blood sugar and ketones, the elevated liver functions, could he have done something to save him. He needed early diagnosis with tests that should be on the routine blood panel nationwide.
Probably not, I am resigned to this outcome, but can I wake up others in time? This is a recurring theme in my mind and in many of the articles I read and stories I’ve heard.
I want to raise awareness, educate physicians and patients, and inform families of this disorder and how it can take a life, devastate a family, and go unnoticed time after time. It is apparent to us the symptoms are attributed to further destruction of the organs. In other words, diabetes, cancer, cirrhosis, and other diseases are diagnosed instead of the underlying cause, which is HH.
“The removal of serum iron and ferritin from routine blood chemistry panels closed the window of opportunity for early detection.” “Millions lost the added benefit of discovering elevated iron early enough to intervene with preventive and treatment measures..” My brother was one such person.
John is doing well. His ferritin is down to 80 after 19 months of weekly phlebotomy. His liver functions and glucose are normal. We are all being tested for iron levels every 6 months to 1 year. Even though my sister and I are only carriers, we have noticed that our ferritin level and iron saturation are higher than last year. We are going to donate blood. We are testing our children to see if they carry the mutated genes. So far, my oldest son and his wife are carriers. Their oldest son, JT is positive for HH at 6 years of age.
My brother was not in poor health, have any medical issues or medical history. He was as normal as you and me. If it can kill without notice at 47, don’t you want to know more? A simple CBC with Ferritin added could have prevented this and there is no reason it can’t be done in the USA, as it is done in other countries.
We had known that my daughter in laws father had died at age 48 from a heart issue, but didn’t put it all together until we tested the 7 year old. Last week we found out that his brother (the uncle) was just diagnosed with HH. It’s becoming a puzzle that we continually need to put together. I believe my Mom had HH. She declined in her 60’s with fatigue and joint pain. Then proceeded to get Parkinson’s and dementia. Classic female HH. My sister Kathy is a carrier, her husband Gary is not. When we diagnosis one person early, it can have an echo effect of healing throughout an extended family.
Please at a few seconds to sign and share is incredibly important petition to get iron tests back on the CBC blood panel. It will save countless lives. Click thru the link below:
Thank You, Patty Heckman, www.ironitout.org board member.