Hereditary Hemochromatosis: Reflections on a diagnosis

Posted December 21st, 2018 by Canadian Hemochromatosis Society

It is the time of year when we give and receive gifts and count blessings. My hereditary hemochromatosis diagnosis came as a shock, but over time I have come to realize it was also a blessing in disguise because it was timely. Luckily, I had not sustained organ-damage despite years of my body being unable to regulate how much iron I absorb, particularly over the decades when I used to take a daily multivitamin with iron.

After the hematologist confirmed my diagnosis, I thanked my family doctor for his timely suspicion, since it likely added back whatever my life span might otherwise be, simply because he ticked the ‘serum ferritin’ box on my annual check-up lab requisition.  Not only that, but his intervention has probably spared me years of declining health and symptoms caused by iron loading in my liver, heart, pancreas, joints, brain, etc.  He smiled modestly and acknowledged that I was probably right!  I asked what had raised his suspicions when he examined me, and he replied that he could not remember, but it might have been small patches of skin pigmentation.  What a gift to have hemochromatosis diagnosed before organ damage ensues.  Thank you to doctors who raise the alarm early!  I will take some credit though for having an annual medical check-up.

There is a saying that when a doctor diagnoses a patient with hemochromatosis, a family gets diagnosed as well. In my case, when my sister in-law (also Irish-born) learned of my diagnosis, she asked her family doctor if she might have hemochromatosis.   Her doctor ordered tests and confirmed that she did.  Further genetic testing confirmed that her sister – my wife – has hemochromatosis too!!  That knowledge is a huge gift for our siblings and especially our children. I think of my diagnosis as a gift that kept on giving, the other beneficiaries being family members who discover that they might be carrying the gene mutation, or have a double mutation and be at risk of developing iron-loading.  Or they can sleep easy.  Happily my siblings sleep easy.  However, each of my children has a 50% risk of being a carrier and a 50% risk of inheriting double mutations, so they know to forewarn their children about the “bronze killer” lurking in their family tree.

How common is hemochromatosis?  In the Canadian population, estimates range from 1:200 to 1:400.  In Ireland the estimate is 1:83.  Those of us with Irish parents need to be especially mindful of hemochromatosis.

There is another way my diagnosis is a gift that has kept on giving.  I now keep the iron in my body from building up by donating blood to Canadian Blood Services every two months. How wonderful that my treatment can also be life saving for others.  So, timely diagnosis is a gift of life span that is not shortened prematurely, added quality of life, an alert for siblings and offspring, and a gift of life for the person on the receiving end of the unit of blood.  What a win-win-win!  Or is it blessing-blessing-blessing?

Discovering the Canadian Hemochromatosis Society was another blessing in coming to terms with my diagnosis.  It took several months from my family doctor’s first suspicions until a specialist could see me and report back.  There was a lot of nail biting in those months: did I need a liver biopsy, or an MRI – and how long would that take?  I found answers to many questions on-line at the Canadian Hemochromatosis Society. I would urge anyone who has questions about hemochromatosis to browse the website.

My wife and I subsequently became members of the Canadian Hemochromatosis Society.  Later I was invited to join the board of directors and then last year I was nominated and elected to become president.

Being involved with the Society is a wonderful experience for me.  I am awed by the generosity of everyone involved – donors, volunteers, board members past and present, and professionals who provide their services pro-bono.

Ray Fynes and his wife with fellow volunteers at the Society’s Family Medicine Forum booth in Toronto

All of us either have hemochromatosis or have a spouse, relative or friend who has.  I am struck by the generosity of new and long-term donors, but also distressed by the increasing number of In Memoriam donations we receive from friends and family of a hemochromatosis sufferer who died.  It is a reminder that diagnosis is not always timely for everyone.

Let me take this opportunity on behalf of the Society to wish you a blessed holiday and happy new year.

Raymond Fynes, President, Canadian Hemochromatosis Society