When I was diagnosed with hereditary hemochromatosis (HH), that wasn't the end of the bad news. The doctor said that since I had the disease, my other family members were at risk. So I dutifully told them they should get tested, and then I got the weekly phlebotomies, with IV (to keep from passing out), had a cardiology workup, and waited three months to see the liver specialist, who finally said I had cirrhosis and probable liver cancer.
I assumed that my family members would get themselves checked out. But, as it turns out, I think some of them decided that little unlucky yours truly was "It." I was the one who'd been hit with the worst-case scenario, so how could they possibly have it as bad as I did? After all, they hadn't been instructed by a physician assistant to take "women's multivitamins [with iron]" and wouldn't have been slavish enough to dutifully follow through on the instruction.
My sister did get a ferritin test fairly soon, and it was rock-solid normal. It seems my parents' PCP had tested their ferritin some years before, and my mother's was elevated, but only to about 200 to 300, while Dad's was rock-solid normal. Brother A finally got his ferritin tested after a year or so; his was 300+, but he insisted "I DO NOT have hemochromatosis!"
Brother B waited the longest, maybe two years. He was 32 when he finally got his ferritin tested, and it came back at 950 units. His ancient spider of a doctor signed him up for phlebotomies and a liver biopsy, and Brother B was mighty lucky the biopsy showed no cirrhosis, because his platelet count was already low.
But neither brother altered any of their lifestyle behaviors. They didn't put down the beer, burgers, or bourbon. Brother A continued to deny he had HH. Mom kept getting horrible static electric shocks in stores (like I do) and continuing to deny that her elevated ferritin was a problem.
Fast forward into the second decade of the twenty-first century. After passage of the Affordable Healthcare Act ("Obamacare"), it seems that Mom and Brother A must've had their ferritin tested again and gotten DNA tests. Both, having previously believed they were merely carriers of the common C282Y mutation of the HFE gene that causes hereditary hemochromatosis found out instead that they were heterozygous: they each had one HFE gene with the C282Y mutation while the other member of the HFE gene pair had a secondary type of mutation (H63D) that causes less severe iron absorption. Thus, Mom and Brother A do have HH but are heterozygous (with a C282Y/H63D gene pair), while Brother B and I are homozygous (two copies of the big, bad C282Y).
So, while Brother B gets a monthly phlebotomy (he loads VERY fast), and I struggle along with cirrhosis, arrhythmia, arthritis, hair loss, and trying to find a doctor's office that can handle all of my special requirements, the two Heterozygs in the family have decided, after a few awkward phlebotomies (bad veins, etc.), that it's just too inconvenient, too much trouble, and they'd gotten along for decades without a problem anyway. The Heterozygs basically say, "Meh!"
I have many, MANY opinions about the healthcare situation in the USA and about how the "lifestyle paradigm" of medicine affects people. My only comment here will be that Brother A's employer might want to consider making it easier for him to get preventive treatment for his hemochromatosis. Instead, Brother A acts as if he is chained to his oar on a Roman galley ship and will be unlocked only when he is too sick to row, at which point he will be tossed overboard to the sharks.
I assumed that my family members would get themselves checked out. But, as it turns out, I think some of them decided that little unlucky yours truly was "It." I was the one who'd been hit with the worst-case scenario, so how could they possibly have it as bad as I did? After all, they hadn't been instructed by a physician assistant to take "women's multivitamins [with iron]" and wouldn't have been slavish enough to dutifully follow through on the instruction.
My sister did get a ferritin test fairly soon, and it was rock-solid normal. It seems my parents' PCP had tested their ferritin some years before, and my mother's was elevated, but only to about 200 to 300, while Dad's was rock-solid normal. Brother A finally got his ferritin tested after a year or so; his was 300+, but he insisted "I DO NOT have hemochromatosis!"
Brother B waited the longest, maybe two years. He was 32 when he finally got his ferritin tested, and it came back at 950 units. His ancient spider of a doctor signed him up for phlebotomies and a liver biopsy, and Brother B was mighty lucky the biopsy showed no cirrhosis, because his platelet count was already low.
But neither brother altered any of their lifestyle behaviors. They didn't put down the beer, burgers, or bourbon. Brother A continued to deny he had HH. Mom kept getting horrible static electric shocks in stores (like I do) and continuing to deny that her elevated ferritin was a problem.
Fast forward into the second decade of the twenty-first century. After passage of the Affordable Healthcare Act ("Obamacare"), it seems that Mom and Brother A must've had their ferritin tested again and gotten DNA tests. Both, having previously believed they were merely carriers of the common C282Y mutation of the HFE gene that causes hereditary hemochromatosis found out instead that they were heterozygous: they each had one HFE gene with the C282Y mutation while the other member of the HFE gene pair had a secondary type of mutation (H63D) that causes less severe iron absorption. Thus, Mom and Brother A do have HH but are heterozygous (with a C282Y/H63D gene pair), while Brother B and I are homozygous (two copies of the big, bad C282Y).
So, while Brother B gets a monthly phlebotomy (he loads VERY fast), and I struggle along with cirrhosis, arrhythmia, arthritis, hair loss, and trying to find a doctor's office that can handle all of my special requirements, the two Heterozygs in the family have decided, after a few awkward phlebotomies (bad veins, etc.), that it's just too inconvenient, too much trouble, and they'd gotten along for decades without a problem anyway. The Heterozygs basically say, "Meh!"
I have many, MANY opinions about the healthcare situation in the USA and about how the "lifestyle paradigm" of medicine affects people. My only comment here will be that Brother A's employer might want to consider making it easier for him to get preventive treatment for his hemochromatosis. Instead, Brother A acts as if he is chained to his oar on a Roman galley ship and will be unlocked only when he is too sick to row, at which point he will be tossed overboard to the sharks.