I am a survivor of many things. Hereditary Hemochromatosis (Homozygous H63d) is when a genetic defect on a pair of genes already decided at conception. There are several genes discovered and more on the horizon. More and more primary care physicians are recognizing this disorder. Our healthcare system shoes not routinely test to see if one is loading iron. They test for too little iron, anemia, routinely. Its important to understand if you know (or even suspect ) a family member may be have Hemochromatosis you shouldn’t ignore it. It is also called the Celtic Curse because many with Celtic origins are at risk. I’ve always though I was the furthest from any Irish heritage. Both sets of my grandparents are from Canada. French Canadians. My father has generations of French Canadian relatives. While my Mother tracked her grandfather’s birth to a place now Northern Italy but formerly France. I don’t know if a technicality makes his heritage Italian or French. It doesn’t matter though. Anyone that has ancestors from northern Europe could possible have the Hemochromatosis genes. There are more facts and info about this disorder.
This is my story with HH. I was diagnose in 2008 at age 48 with this disease after years af failing health. As many of us HH’ers who unknowingly store dietary iron I had many lab tests done. Most were over or under the limits consistently. The liver enzymes being the one test always off baseline. Finally after having bilateral carpal tunnel release procedures relieve the numb and tingling in my fingers but the procedure caused my thumbs to become frozen with arthritis. With a positive ANA blood test (but a negative RA antibody) I visited a Rheumatoid Arthritic specialist at the Brigham and Women’s Hospital in Boston. Through a series of elimination by trying known drugs which treat the symptoms of RA over several months. The physician ran the genetic test for Hemochromatosis. He had run the test of a handful of patients over his 30 year career yet never had a test actually return positive. I was blindsided by a diagnosis which would change everything I believed in.
I was not a healthy person. At least I had my answer.
It was routine to follow a genetic test with a liver biopsy. It was at that point that I found my I had been storing iron for years causing symptoms I had accepted as aging. I began treatment through weekly phlebotomy. After six months of weekly phlebotomies became biweekly followed by monthly.
The arthritis which disabled me is a constant presence in my life. Both of my thumbs still ache but they are again usable within a 50% range. The one blessing I have discovered and many other HHers also agree. When my thumb and finger joints begin to ache again it is usually time for a phlebotomy. The iron builds up within the synovial fluid causing it to become thick like sludge. For me it is a tell tale sign.
In recent years my left hip also has accumulations of iron within the synovial fluid which surround the socket. Although I may be looking at an eventual hip replacement I am more concerned with the iron accumulation in my lungs discovered during a recent hospitalization with pneumonia. Again what I thought was asthma is actually iron deposits within my lungs.