Local family encourages testing for hemochromatosis
Family member: ‘I want to educate the community and anyone I can reach’
After enduring debilitating fatigue and other troubling symptoms, Margaret Rose and her brother, Charles Porter, went through numerous tests and doctors to find out what was wrong.
Porter got the diagnosis first — hemochromatosis.
Hemochromatosis is a rare, hereditary disease resulting from a mutated gene that affects the body’s ability to process iron, which plays a role in several bodily functions, including the formation of blood. But, too much iron is toxic. The hormone hepcidin, secreted by the liver, controls how iron is used and and stored, but in hemochromatosis, hepcidin is disrupted, causing the body to retain more iron than it needs and store it in the liver, heart and pancreas. While many people have faulty genes that cause hemochromatosis, only about 10 percent develop iron overload.
Men are more likely to develop symptoms of the disease at an earlier age, because women lose iron through menstruation and thus tend to store less than men, but after menopause or a hysterectomy, the risk for women increases. Over a period of time, the stored iron can cause damage to tissues and organ failure and chronic diseases such as cirrhosis, diabetes and heart failure.
“Our bodies do not have a hormone to process iron so when we take in iron our body starts putting it in major organs,” Rose said. “Fatigue was our biggest problem, and shortness of breath, heart palpitations and losing hair. It’s made me anemic, and has affected my liver. I could sleep 16 hours a day and be so tired I couldn’t get to the kitchen. Not everyone experiences the same symptoms. It’s caused me to have neuropathy, and my brother Charles, arthritis. And now, because of the arthritis medicine, he has Lupus.”
Rose believes her parents may have passed the disease on to she and her brother.
“My parents both had the same muted gene, died from it and didn’t know what it was,” Rose said. “Back then, people worked hard so they were tired and never thought much about it. If you have it, you’re born with it, but symptoms don’t become visible until you’re middle age, and vary, so it’s difficult for your doctor to diagnose it.”
The diagnosis was almost missed.
“I want to educate the community and anyone I can reach to let them know there’s a disease that can kill them, and they won’t even know it,” said Rose, who is now 71.
Porter is 65, and Weathers is 84.
“My brother went to a specialist in Springfield,” Rose said. “We were getting ready to go to the Mayo clinic, when the specialist said, ‘There’s one more disease to check for. It’s rare, but I want to test before you go.’ A lot of doctors don’t know about hemochromatosis, and that’s why they doctored us for so many years. My doctors gave up.”
The disease has impacted Porter’s quality of life.
“I’ve been affected quite a lot,” he said. “I started having symptoms in 2015. It’s rare, so it’s not the first thing doctors look for, so it took a substantial amount of time before I was diagnosed. I talked to numerous docs, nurse practitioners and technicians and went through a long series of tests and bloodwork, before finally being diagnosed, and once my iron numbers came down, I began to feel substantially better pretty quick.
“When you go through all that on a daily basis, it definitely affects your mental outlook. I wondered if I was going to survive. The issues were that terrible — severe fatigue, a burning sensation in my eyes, a shaky, weak feeling.”
The disease has impacted Rose, too, who relies on a walker.
“I was diagnosed a week after Charles,” she said. “It was really hard to accept at first, but a lot have things worse than this, and I just decided I’m going to fight with everything I’m worth and continue to do what I’ve always done. On a good day, I can walk 20-30 steps at a time without the walker, but there’s never a day I’m not in pain. It feels like my legs are going to burst, and they’ll go numb. I also have the neuropathy in my arms and hands.
“It’s really been a test for me. But, I think God has a plan for everything and somehow, something good will come out of this.”
Rose and Porter now get their blood tested, and excess iron withdrawn, every week at Mercy Cassville.
“The only thing they can do is put you on a diet low in iron and that means no red meat, beans, green leafy veggies, etc., and take a pint of blood every week,” she said. “That’s the only treatment, to take more iron out than your body makes. It takes your body 59 days to make new blood.”
Recent recommendations from a naturopathic doctor to take specific supplemental vitamins greatly decreased Rose’s dependence on a walker, giving her a better outlook.
But Weathers, who is only a carrier, worries about her brother and sister.
“I am really concerned about them,” she said. “I don’t have it, but could pass it on to my kids. My concern is that people be aware and just go get tested. If you have it, you need to have your children tested because it doesn’t skip generations.”
“A simple iron test will not tell if you have it — you have to have a three-step test,” Rose said. “The three of us really want to educate others that they could be sick and not know it.”
“If you have something wrong and are having problems finding out what the issue is, that might be somewhere to look,” Porter said.
For now, the three stick together and take one day at a time.
“We’ll have to be tested all of our life to see if our iron counts are going up,” Rose said. “We take things day by day.”