“We Can Now Manage the Progression of this Illness”

chronicles-samantha My name is Samantha and I am 28 years old. My sister Olivia is 27 and we are both homozygous for the C282Y mutation and therefore at an increased risk of developing clinical signs and symptoms of the disease hemochromatosis.

In 2011, Olivia was diagnosed with hypothyroidism after fainting in a university lecture. She was put on medication for this condition and was later referred to an endocrinologist in Vancouver. During this time she also presented with a high ferritin level, which her family doctor assumed was simply associated with her thyroid condition. My mother (who is a registered nurse) urged Olivia to ask the endocrinologist why her ferritin was continuously high. The doctor stated that this was not his specialty and suggested she return to her family doctor to address this issue.

As the months went by, our mother was increasingly concerned about our fatigue and general well being. My sister and I chalked it up to our busy schedules at university and Olivia’s thyroid condition.

In December 2011 we traveled home to visit our parents and my mother insisted that we go see our family doctor and have our blood work checked again. The doctor was initially reluctant to test my ferritin (and re-test my sister’s), but after my mother called his office and insisted, he agreed to order a ferritin test for both of us. Not only did my sister’s ferritin come back high again but my ferritin level was also elevated at 670.

My mother, who was becoming increasingly suspicious, did some research online and found the CHS website. The website is a great resource as we find it to be one of the most reliable, relevant and easy-to-read websites regarding the genetic disorder. My mother asked the family doctor if he would follow up with transferrin saturation and iron levels.

When these test results also came back high, the doctor was unsure of the prognosis but felt that occasional blood work to monitor our ferritin would suffice. Yet again our mother intervened and spoke with the family doctor. She suggested that these might be possible indicators of hemochromatosis and showed him information that she had printed from the CHS website.

The doctor, unsure how to proceed, decided to call the molecular geneticist at the lab in Vancouver. Following this, we underwent genetic testing, and on January 11th 2012 we were both diagnosed (at 23 and 24 years of age) with genetic hemochromatosis.

In the Fall of 2012, my sister attended a CHS information session in Montreal. She was comforted in meeting others living with this condition, and gained a better understanding of the disorder from the information presented.

While my sister and I are now aware of our genetic condition and can manage the progression of this illness, there were many people involved in getting to the point of our diagnoses, which at times proved to be especially challenging for females of our age.

A few summers ago I saw Dr. Chris Whittington, an expert in the field of hemochromatosis. At the end of my appointment she said that I should buy a box of chocolates for the doctor who initially diagnosed me as he or she “saved my life”. I took her advice and bought that box of chocolates for the person whose determination and perseverance I credit for my diagnosis, and delivered them to my mother.

My sister and I are the “1 in 300 Canadians” who have this genetic condition. We are confident that with our early diagnosis and continued treatment we shall have long and healthy lives.

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