This story comes from a Canadian woman who prefers to remain anonymous due to the stigma and difficulties of openly sharing her disease with employers etc.
My disease is not who I am. I tend not to dwell on the hand I’ve been dealt and I don’t see the point in educating you about my disease on a regular basis because you likely don’t have it, nor will you likely know someone with it other than me, but once a year I talk about it to promote Rare Disease Day because there are 1000s of rare diseases out there that have the unfortunate (or fortunate depending on how you look at it) status of being rare which means less research, less education and usually longer suffering. So here’s our story…
My mom passed away in 2001 at the age of 50 due to complications from Multiple Endocrine Neoplasia Type 1, a hereditary disease caused by a gene mutation causing a predisposition for tumour growth most commonly in the parathryoid, pituitary glands and pancreas. She was diagnosed with MEN 1 that Spring, but unfortunately it was too late to stop the disease and my mom died June 4, 2001 after a grueling battle that included calcification of her lungs, heart, spine and other organs.
Around this time my grandfather and I were both found to have elevated parathyroid hormones and high blood calcium resulting in both of us having the majority of our parathyroid glands removed; in my case it was a preventative surgery and they removed 2.5 of the 4 parathyroid glands. Looking back on it I wish I had held off on the surgery and monitored it a little longer as I have struggled with low blood calcium, bone pain and taking high doses of calcium and vitamin D for the last 15 years. So far my mother, grandfather and myself are the only family members diagnosed with MEN1. Both of them are now gone and at this point I know of no other family members that have been diagnosed as the disease can go undetected for decades and its effects will differ in each individual (I have yet to determine if it is from my Murphy or Ellery maternal lines.)
At this point aside from my parathyroid issues I also have a tumour on my pituitary gland (with little to no issues since it was detected in 2006) and a tumour on my pancreas found in 2007. In 2001 it was believed that MEN1 produced non-cancerous tumours…today we know thats not true. MEN1’ers can develop some rare tumours that are malignant; my pancreatic neuroendocrine tumour (PNET) being one of those. At this point my PNET is believed to be non-functioning with no sign of cancer, the unfortunate part of this is that it can become cancerous. I have annual scans to detect and measure tumour growth and as long as the tumour doesn’t reach 2cm I can just monitor it (at 2cm they deem the tumour to be cancerous (I’m currently at 1.7cm)). Given the location of my tumour I would require a total pancreatectomy. Most recently there are doctors that are upping the range to 3cm so I’m hoping this becomes standard since I’m so close to that 2cm mark. I am very lucky to have 3 amazing specialists at MAC, Juravinski Cancer Centre and Juravinski Hospital and while I dread the numerous appointments, tests and travel expenses I know I am blessed to have access to these medical professionals in the hopes of increasing my lifespan and maintaining a good quality of life. MEN affects each patiently differently and to varying degrees so while my future will be very different than my mother’s fate you just never know.
While I can’t change the results of my tests or know what my future holds, I find solace in where this journey has taken me and continue to be positive for my future.
Rare Disease Day is an opportunity to shed light on the numerous diseases that tend not to see the limelight unless someone you know has a rare disease.
Research brings hope to people living with a rare disease. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Every disease and medical condition deserves funding, research and education. No one should have to suffer, but the reality of our world is that many will and while 50 years ago we could never have phathomed the diseases that we see today, my hope is that one day there will be a cure or a way to correct our health and well being.
More courage. Less fear. Even when it’s hard.