As we left off, our heroine was fighting things she couldn’t see with sub-par weaponry. In other words, it would have been nice if my doctor had thought to look further into my serious life threatening disease. However, she was very busy patting my hand and looking for more of those neat blisters I had. Seriously. It’s like being a brightly colored bug that is discovered by an entomologist. I started doing my own research and had to remind everyone to test my ferritin levels plus perform a new test I had discovered called transferrin saturation. I figured out that if my transferrin saturation was greater than 45%, my liver could be in serious condition. I asked for a whole panel of work ups on everything. I found out that I could be highly susceptible to hepatitis C, liver damage, and cirrhosis of the liver. So, on one of these occasions when I was having my blood drawn and the doctor happened to come by and see me, she asked me how I was doing. I told her I was completely and utterly exhausted. Apparently I was suffering from chronic fatigue, which made her think she needed to run this supplemental blood test.
Now, I can’t recall the exact year at this time in my story. It was after the birth of my first child, which means that I have been in treatment with this doctor at least three years. The point I am making is that the test she was about to do could have been done when I first started treatment. She said she thought that perhaps I had hereditary hemochromatosis. Naturally, I proceed to make a phone call to a friend in medical school. I ask him what he knows about HH, and to paraphrase “Oh, you don’t want that shit. That’s some bad stuff.” Ha. So, I look it up and find this:
Patients who do have symptoms may experience:
- muscle aches and joint pain, primarily in the fingers, knees, hips, and ankles; one of the earliest symptoms is arthritis of the knuckles of the first and second fingers
- chronic fatigue
- depression, disorientation, or memory problems
- stomach swelling, abdominal pain, diarrhea, or nausea
- loss of body hair, other than that on the scalp
- premature menopause
- gray or bronze skin similar to a suntan
- heart problems
- enlarged liver
- increased susceptibility to bacterial infections
To quote the Church Lady, “Well, isn’t that special?” As soon as I read the symptoms, I knew I had it. It didn’t matter what the test said, it all fit. Luckily, you can get it under control with phlebotomies. Since I was a pro at having my blood taken at this stage, I was okay with having blood taken for the rest of my life. Wait a minute, hold everything. The word hereditary is in there. All this time I have been blaming myself for everything that was happening and now I can blame someone else. My parents. As soon as I got the results back, I called them.
Truthfully, I do not hold them responsible at all. After the birth of my second daughter, I took both of my babies to CHKD to see a genetic specialist. We had them tested for the disease. The test only became available in 1998, and by this point it was 2002. My parents were very supportive and my mom researched everything like a mad woman. When I slacked off because I was tired of going for check-ups, she reminded me to get my levels checked. When I stopped asking questions, she went with me and asked some of her own. When I had a drink of wine, she asked me if I should be having that. So, we all prayed that the girls results were favorable. I studied biology, so I knew that the chance of carrying the HFE gene was high, but as long as they only had one, it would balance itself out.
Finally, we get good news. Our girls are only carriers. My husband has no history of the gene. So I proceed to pester my entire family and ask them all to get tested. I seem to recall my father’s doctor did not want to do this test for some reason. Nevertheless, we finally all get our results. Both parents are carriers, thus producing one child with it, and one without it. Did I mention I hated that portion of my biology class?
So now what? I could make this longer, and perhaps I’ll come back to this topic later, but for now I’ll end this portion by saying it has been thirteen years since all of this started. I do not hide in the house during the day, but I do wear large amounts of sunscreen in the summer months. I encourage all of my friends to ask questions and don’t give up on your quest for a healthy life.
“If you are going through hell, keep going.” ~Winston Churchill