Hopefully one day my early age of diagnosis becomes the standard rather than the exception to the norm.
In February 2017 I was 22 years old and half way through my first year of school at the Canadian Memorial Chiropractic College. I began experiencing symptoms of fatigue, trouble concentrating and increased frequency of migraine headaches. I thought that the increasing demands of my education were to blame for these symptoms so I made an appointment with my family doctor to get medication to manage my migraines. She referred me to a neurologist for further testing and medication.
I saw the neurologist in late June 2017. As a part of his new patient intake he ran a wide variety of blood tests including a ferritin test. I had the blood tests done by a private lab company and signed up for the online results service. Later that week I got an email saying my results were in and upon logging in I saw a red exclamation mark beside some of the numbers. My ferritin level was 1391 ug/L (normal is 22-275) and my liver enzymes were elevated. I thought to myself “that can’t be right” and noticed that it said the tests had been repeated and confirmed. This left me to quite frantically search google to find an explanation. This was the first time I had ever hear of hemochromatosis. Soon after I called the neurologist’s office and was booked in for an appointment about a week later. The following week which included my 23rd birthday was filled with stress and uncertainty. In early July I went in to the neurologist’s office and he confirmed that hemochromatosis was likely the cause of the elevated ferritin level. He was surprised to see this condition manifesting in someone so young. He had previously diagnosed hemochromatosis in a 45-year-old female referred to him for migraines but at this point she had many of the typical presenting symptoms such as bronzing of the skin and liver issues. The neurologist sent for genetic tests which eventually confirmed that I have the most common genetic variant which leads to iron overload (homozygous C282Y allele of the HFE gene). He prescribed medication for my migraines, referred me to a hematologist and a genetic counselor for further management.
I saw the hematologist in late July and began weekly phlebotomies (blood donations) in early August. Within the first few treatments my liver enzymes had normalized. I saw the genetic counselor in October who recommend my first-degree relatives get ferritin tests. She also recommended that since my heritage is largely from the United Kingdom and Eastern Europe, I talk to my extended family to consult their physician if they were experiencing any symptoms of hemochromatosis. No one else in my family has been diagnosed with hemochromatosis. I went for phlebotomies consistently every 1-2 weeks until May of 2018 at which point my ferritin was down to 31 ug/L, well below the upper limit of normal. Since then I have had none of my previous symptoms and my migraines have decreased in frequency. In February 2019 I had a ferritin level of 154 ug/L and was advised to donate blood. If this trend continues, I will likely have to donate blood 2-3 times a year to maintain my ferritin levels at 50 ug/L.
My understanding of migraines is that they have many triggers such as diet, sleep, caffeine, alcohol and exercise. Each person has different triggers that add up to reach migraine threshold and provoke a migraine. The neurologist said that migraines and hemochromatosis are not convincingly linked by scientific research but iron does play a role in some neurological conditions. I would have had migraines without the iron overload, but I do think the excess iron exacerbated my migraines. Both migraines and hemochromatosis are common conditions so it is not entirely unusual to find someone with both.
I cannot express how incredibly grateful I am for my early age of diagnosis. I know it has added years to my life. What has impacted me the most about my whole experience is that at so many points my condition could have gone undiagnosed. If I had just accepted my migraines, as I had up to this point, I never would have gone in to my family doctor. If my family doctor had decided to prescribe me medication in that first visit without specialist investigation I would not have been diagnosed. I am sure many doctors would agree that a neurologist referral for every case of migraines would be a burden on the healthcare system. Ultimately, if the neurologist had not decided to check that one box on the test order form I would not have been diagnosed.
Since my diagnosis, I have learned about hemochromatosis in many of my courses. Every time the professor paints the same picture of a patient presenting with symptoms of late stage complications of hemochromatosis. They are invariably surprised when I walk up to them after class and tell them I have hemochromatosis. I am also incredibly grateful for the work that the Canadian Hemochromatosis Society does to educate healthcare providers and empower hemochromatosis patients to advocate for the best possible care. If you suspect that you or a loved one has hemochromatosis it is very important to advocate for a ferritin test. Some healthcare professionals still believe hemochromatosis is a rare condition that presents only in the middle aged to elderly and therefore do not screen for it in younger people. This is an important public health issue because as many as 1 in 300 Canadians have hemochromatosis. Hopefully one day my early age of diagnosis becomes the standard rather than the exception to the norm.