“I know I have MNGIE, but I refuse to be defined by it.”

I heard “you are so very brave” as the specialist looked me in the eye at my last appointment. I felt choked up and proud. Having an ultra-rare mitochondrial disease sometimes makes me wonder who I am now, what is my identity as a person with a health challenge?

Since being officially diagnosed with MNGIE (mitochondrial neurogastrointenstinal encephalomyopathy) in 2020, I have often wondered about this new definition of who I am. Am I Hazel-with-MNGIE now? Does a new health label soak into my sense of self and how others see me now? What is my identity? My being?

On the other hand… nothing has changed. I’m still the same person I always was – a mother, a working professional, a community champion – because I’ve always maintained an active lifestyle, eating a healthy and natural diet, and managing my symptoms, even before it was diagnosed.

Still, there have been modifications since my diagnosis: I’m now a volunteer ambassador for MitoCanada, I have a better understanding of my energy needs (starting slow where exercise is concerned, moving at my own pace and ensuring frequent intake of high calorie snacks), and I have more strategies of how to tackle nagging MNGIE symptoms. And along the way, I have met some amazing, inspirational fellow MNGIE patients around the world (there’s apparently only 200 of us).

I have first-hand knowledge of those energy needs, as I’ve spent the past four months training for a high elevation hike in Colorado. I’ve put in the kilometres, climbed a lot of elevation, and feel as though I’m ready. It doesn’t hurt that my hiking companions, who are incredibly fit triathletes, and long-time friends, are only too happy to move at my pace, enjoy the scenery, be flexible, and it’s enough to spend time together no matter what may transpire on the trail.

I was going to write about the diagnosis and how it mirrors the five stages of grief – denial, anger, bargaining, depression and acceptance – because there is certainly some of that, though I feel everyone’s journey with a rare disease is a very personal experience, lonely at times, and can’t be neatly defined.

I guess at the end of the day, I know I have MNGIE, but I refuse to be defined by it. I’m still me, my family (including two teenagers and a husband + many other relatives and friends) still need me. I still have lots to contribute in bringing attention to MNGIE and rare diseases to help all of those who deal with the day-to-day challenges they bring. Quite simply, if I can hike to the top of a mountain, then MNGIE can come along with me and we’ll overcome any limits it wants to place on me. And yes, “I am so very brave.”

Pictures from Hazel’s Colorado hike, 2023.