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My ‘Tiredness’ Turned Out to Be a Genetic Condition That Raises Cancer Risk – msnNOW

February 1st, 2020 4:42 am

Courtesy Jen B.

In 2012, Bev Michel found a large lump in her breast. This discovery started a medical odyssey that led to a cancer diagnosis and ultimately unraveled the mystery of a variety of health issues that had plagued her for more than eight years.

Following up on the lump with a mammogram and biopsy, Michel got the startling news that she had cancer. The West Chester, Pennsylvania resident immediately jumped into a chemotherapy regimen, undergoing six sessions of chemo and two lumpectomiesonly to find later after genetic testing that her type of cancer, lobular breast cancer, doesn't respond to chemotherapy. She then requested and underwent a double mastectomy, hoping to ensure the cancer was gone for good. But the cancer recurred in 2016near the nodes. So she again had surgery, this time to remove lymph nodes that she later learned were benign.

Michel felt there had to be more to her troubles, and she went to her general practitioner for guidance. "I told her how I was always tired, and how much my joints ached," Michel recalls. "She ran a couple of blood tests, and when she received the results she didn't believe them. She said my iron levels were sky-high, so she retested them. They were even higher." Michel's doctor diagnosed her with hemochromatosis, a metabolic disorder that leads to abnormally high iron levels in the body.

The mineral deposits itself into organs like the heart, liver, and pancreas, and in the joints; it can raise the risk of cancer and other diseases. A normal human absorbs about 8 to 10 percent of the iron they get from their diet; people with hemochromatosis absorb four times as much. The condition is inherited, and people with northern European ancestry have an elevated risk, according to the Genetics Home Reference. Experts estimate that 16 million Americans have elevated iron levels. Michel's diagnosis helped shed light on her family's medical history. "My mom died of breast cancer, had macular degeneration, and heart issueswhich are all signs of the disorder. When I had genetic testing, my results showed that both of my parents had the gene mutation, so of course, I would, too." (Here, doctors reveal the rarest conditions they've ever diagnosed.)

About one in 227 of people of Northern European descent have the condition, and about 10% of white people in the U.S. are carriers, according to National Organization for Rare Disorders. That means they have one copy of the gene mutation that causes hemochromatosis. You need to inherit two copies of the gene, one from each parent, to have the condition, although not everyone with both genes develops it. It's most often diagnosed in men after age 40 and in women after 60, in the postmenopausal years. While it's one of the most common genetic diseases in the U.S., it's less common in African Americans, and people who are of Hispanic, Asian, or Native American descent.

Michel was told she would need to donate blood every few weeks for the rest of her life, as giving blood regularly helps reduce iron levels. The prospect of this sent her to the internet to research other possible treatments. "What I found was that high iron is correlated to cancer, and I'm convinced it's what caused cancer for both my mom and me," she says."I found a doctor at the University of Maryland, Abulkalam M. Shamsuddin, MB, BS, PhD, who had studied the use of something called IP6 for treatment of cancer and iron overload." IP6 stands for inositol hexaphosphate: It's basically a carbohydrate substance that behaves like a vitamin, and it binds with extra iron in the body, explains Michael. "Once I began taking it, I haven't had a blood draw in two years, and my cancer has not recurred. My doctors are amazed."

Through her journey, Michel has found a passion for educating others about this relatively common yet underdiagnosed disorder. "I think there needs to be more open-mindedness among the medical community regarding treatments for conditions like this. Instead of treating only symptoms, look for the cause," she says.

If you have suspicious symptoms and you're not finding answers, Michel advises you be direct: "Ask to be tested for hemochromatosis. It's not an expensive test. If you have cancer, look for a possible correlation to your iron levels. If you test positive, then consider genetic testing for your children's sake. If you have it, they might, too."

Don't miss the 50 everyday habits that reduce your risk of breast cancer.

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My 'Tiredness' Turned Out to Be a Genetic Condition That Raises Cancer Risk - msnNOW

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