“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.”
How chronic illnesses are more than just physical symptoms
After receiving a mitochondrial disorder diagnosis, I was first relieved as I finally had an answer, but this was soon followed by frustration. I was relieved to know why my body was doing strange things I couldn’t control and that I wasn’t making them up. Still, I was frustrated as I already had other health issues, namely chronic neuropathic pain following a near-fatal car accident in 1986. Recently, I found myself dealing with new mitochondrial symptoms, and my reaction was, “Seriously, now this too?!” Mitochondrial disorders are incredibly challenging, but having lived with chronic pain for over 37 years, I have come to understand how our day-to-day lives significantly impact our health.
As an advocate, university lecturer, and peer-reviewed published researcher, I have learned how stress, psychological, social, and emotional factors significantly affect chronic illness and the sympathetic nervous system, which is our fight-or-flight response.
As a result, these factors negatively impact our overall health, thereby adding to or increasing our symptoms. Being aware of these impacts and doing what we can to help minimize the flight-or-flight response can help us better manage our symptoms. This doesn’t mean we can think away our mitochondrial disorders, but it can offer more physical and mental energy to allow us to live better. This can seem counterintuitive, and it took me years to understand, but doing the little things that bring a sense of peace or calm can really help. This involves activities that offer us joy, such as listening to music or playing an instrument, reading, socializing with family or friends, or being in nature. Further, while exercise can be challenging, many forms of meaningful movement are helpful for mito patients, such as walks, gardening or riding a bike. This is referred to as self-management.
It is important to understand that managing ones mito disorder isn’t all on us and that it is fundamentally important to good health care to have collaborative relationships, called therapeutic alliances, with our healthcare providers. With this, self-management becomes supported self-management – a team effort. Living with a mitochondrial disorder is hard, and supported self-management is important in managing our health. Therapeutic alliance as a tenet of effective healthcare is not a new philosophy; Canadian physician Sir William Osler (1849 to 1919) is quoted to have said that “The good physician treats the disease; the great physician treats the patient who has the disease”. Some academics believe Osler’s quote is a paraphrase of Hippocrates 2,500-year-old quote, “It is far more important to know what person the disease has than what disease the person has.”
Living with a mitochondrial disorder is physically and emotionally demanding. This is why it is important that healthcare systems embrace a person-centred model of care – treating the person, not their disease. As patients, there are things we can do to help us live better, but working collaboratively with our healthcare providers leads to a synergistic outcome; the sum is greater than the individual elements.
Being diagnosed with Mitochondrial Disease, while it likely has given needed answers, is overwhelming. The uncertainty of how the disease will progress can be paralyzing because the only certainty is that Mitochondrial Disease is unpredictable since it impacts everyone differently-even with the same genetic mutation and even in the same family. Learning different skills and be willing to adapt is crucial.
Patients with “Mito” need to understand how to conserve energy and what can affect the energy in their body. It’s learning to become in tune with the signs and signals the body gives and not ignore them. Pushing past your personal threshold can have potential consequences. Pacing and thinking about the most effective way to complete a task/activity and adapting the task to conserve energy is beneficial. Learning to ask for help if needed is an important tool.
Following a routine helps me plan my potential energy use. (the “spoon theory” is a good explanation for pacing). Pre-planning the day can help but there are external factors that can affect you and derail all good intentions. Allow for things that are completely out of our control – like weather fluctuations/barometer changes or illness etc. Rest when necessary and do not berate yourself or feel like a failure if you must stop and reassess.
You have some control on how to help support your mitochondrial health, for example:
Fuelling the body properly with Food (what this looks like for one person will differ for another because “Mito” is a metabolic disease).
Movement/Activity and exercising to personal ability
Taking your prescription medications/supplements according to the guidelines and not skip doses,
Avoid toxins that can harm the mitochondria like certain prescription drugs, and external environmental toxins
Sleep regulation/hygiene is so important to regenerate the body, so rest when you need to and try to maintain a healthy sleep schedule. If you have sleep issues, don’t hesitate to ask for a referral for a sleep study.
Therapy: Occupational, Physio, Counselling, Massage, Acupuncture etc.
Use Mobility devices and adaptive tools when needed
Form a Support Team of family and friends; join Support Groups
Use a Tracking Journal
Mindset is important for me, making sure I do not have a defeatist attitude and that I am being a willing participant in maintaining good health. I can’t just sit around being complacent waiting for a proper treatment or cure. I need to make sure I keep trying and challenging myself and not compare my accomplishments with anyone else’s. I try to let go of societal expectations; because what others think I should be able to do and what I’m capable of doing may no longer match up.
The quote “Adapt or Perish” is a great reminder of how our ancestors adapted to their surroundings to come up with different skills, technology and thought processes to Thrive. Human beings are resilient, and we can adapt to what life throws at us- so many of the “Mito Warriors” emulate this daily.