It has been many years since I began my journey in blog form regarding my Hemochromatosis diagnosis. There are so many with this diagnosis that do not even know they have it until way into their years. It is a simple blood test called a Ferritin Level. This test does not give you a definitive diagnosis, but it does let you know if further testing is needed. If the Ferritin level is high, above 300 you may want to talk to your physician and see if the actual testing for Hemochromatosis is warranted.
Hemochromatosis itself is easily maintained. The issue happens when it goes undiagnosed into the middle-aged range. The Iron overload may cause damage to the internal organs, and there are other medical conditions that may follow due to untreated Iron Overload. This has been the case for me. Because of the lateness of the diagnosis, other issues developed. The biggest mystery was the arthritis. In search for what the joint pain cause was, the tests were inconclusive. The RA Factor returned positive for all the markers except one. I was told it was Fibromyalgia, but I did not respond to the medications for Fibro. I was then told it was Osteoarthritis, again my body did not respond to the appropriate medications. I did a bit of digging and discovered a specific arthritis that effects individuals with Hemochromatosis having the H63d genes. That is me, I have two copies of the H63d genes. I was then told that only 2 percent of the people with this specific form go on to have issues from it. So, for a while the possibility I might be in that 2 percent, was mainly ignored by physicians. I got to the point where I could not hardly get around on my two feet, the pain was unbearable. Then the Rheumatologist said, if I had that specific arthritis from Hemochromatosis, a specific medication might help. I was willing to try it, I needed relief, my quality of life was going downhill too fast. I began taking the medication, and in a months’ time the pain level was greatly reduced, and I began to move around easier. Don’t give up! Keep on pushing for your care, get second opinions!! Its ok to change doctors if yours is not listening to you. I changed Rheumatologists 3 times, and Gastroenterologist twice. It’s important to have a physician that listens and takes action to your concerns. It is your life; it is your health. Do not stay with a Dr., that is not helping you get better.
Unfortunately, it was also determined that I had a secondary hereditary issue. It is called Alpha-1 Antitrypsin Protein Disorder. It affects the lungs and the liver. Fortunately for me one of my Drs., is very diligent about keeping up with my illnesses, and the latest updates regarding them. I was told it is very preliminary but new studies are indicating that Alpha-1 (considered very rare) is now showing to be a little more common in…. you guessed it!! People who have Hemochromatosis!! Yes, there is my culprit, I have two illnesses that attack the liver. Thats why my liver is in the condition it is. I’ve also been told there is a new medication for another illness that is now showing some promise for helping the liver. Keep your eyes peeled and ask your doctors about new meds. The other concerning thing I want to mention here is liver transplants. I have been told by more than one doctor; the hemochromatosis patient is not eligible to be put on the list. I have never got a good answer as to why not. Talk to your doctor early about this.
I want to close with good news. It has been about 11-12 years since I began the journey of finding out the reason for being sick. I was told it really shortens the lifespan when found late in life. Many medical sources online states about a 5-year expectancy to a serious decline. But for me because of my excellent doctors that have done the extra research and gone the extra mile to help me just because they are wonderful, I’m better today than I was 11 years ago. I can get up and move around, my iron levels are reasonable controlled, and hope resides well within me. There are still a few undesirables, my liver levels continue to decline, but very slowly, and the daily battle with fatigue is real, but again Im here, I can enjoy my grandchildren a little longer. Be diligent about your health and your care. God Bless.
Id love to hear your thoughts and stories on Hemochromatosis, comments are welcome.
Thoughts Thru Lifes Journey 