I am 62 years old and yet it was only a few years ago that I found out that I was born with a genetic disorder–Hereditary Hemochromatosis. I have been on a learning curve ever since.
In 2010, I was commuting home from work with my husband when, very suddenly, I felt discomfort in my chest. It went up my arms, and I had an electric feeling up my spine and skull. We drove to the hospital thinking I was having a heart attack. Many tests and hours later, a physician told me that my heart seemed fine but that he was puzzled by my symptoms–they seemed to be neurological. He told me that if this happened in another 10 days to come back. It did. Back I went and after another examination and a follow up referral to a cardiologist, it seemed my heart was doing fine. But I had no answers. What was going on?
Time went on with a stream of weird symptoms like low energy, acute vertigo, acute gastritis. I thought, “This post-menopause stuff is awful!” In 2012, my family doctor did some iron studies and discovered my ferritin was 700 ng/mL and my transferrin saturation was 97%. She ordered a DNA test and it confirmed I was a C282Y homozygote and had Hereditary Hemochromatosis. I saw a genetic counsellor who explained it and gave me information about what I should tell my family. It became painfully clear to me that my mother’s long illness and death by liver cancer may well have been undiagnosed Hemochromatosis.
Under the supervision of a hematologist, I started with regular phlebotomies every 10 days at a medical IV clinic. By May 2013, my ferritin was down to 51 ng/mL and I was put on a 3-4 month recall. I followed this recall until 2015 when my family doctor discovered that despite my ferritin being monitored and within a normal reference at 124 ng/mL, my transferrin saturation was back up to 82%! I was not feeling great.
I went for a few extra phlebotomies to lower that number, then onto a recall of every second month. After a few months, I was feeling so much better. My ferritin was dropping as was my saturation (47%) and I finally felt well again. For about a year I donated blood at Canadian Blood Services every two months and became symptom free. My fitness increased as my energy climbed. I thought the solution was found! I was so excited.
In June 2017, I got a call from the hematologist’s office ordering a stop to the phlebotomies for 6-12 months because my ferritin was at 9 ng/mL. I booked an appointment to see him and he was surprised at how healthy and fit I was–I was walking, cycling, doing yoga. However, as the time passed without a phlebotomy, I watched with dismay as my energy and wellness slowly evaporated and all of my symptoms returned. These symptoms which I get include gastric discomforts; sore joints, especially the large knuckle of my right index finger; sleep disturbances including night time headaches and nightmares; low energy and mood; dry mouth and eyes; hair loss; and intolerance to hot/cold.
I am with a new family doctor and we are learning how important monitoring transferrin saturation is at this stage. I am currently on a three month recall via donations to Canadian Blood Services. My doctor would like to see the results of this schedule by performing my iron studies prior to each phlebotomy. I agreed to experiment with this schedule, although I do feel tentative going for three months between phlebotomies since my previous experience at this same interval led to me feeling so unwell.
I am sharing my experience because it is clear to me that not all people with Hereditary Hemochromatosis manifest it in the same way. There seem to be inconsistencies in the knowledge and treatment of the disorder. While I am grateful that I was diagnosed in 2012, we still struggle to figure out what my treatment norms should be. I feel like I am on a roller coaster, with no turn-off switch, chasing wellness.