Community Corner

Dear MitoCanada Community Members

Hello!

My name is Hala Abass. I am a founding member of the MENA Organization for Rare Diseases in the United Arab Emirates. I had two young boys who suffered from Mitochondrial Cytopathy affecting complex (IV) respiratory chain enzymes. Both my boys have passed away.

Initially, we had biochemical investigations and cultured fibroblasts in both children. The final results showed slightly reduced activity in complex IV in the fibroblasts, caused by a homozygous mutation in the Mitochondrial Poly (A) Polymerase (MTPAP) gene. In addition, the boys were diagnosed with Autosomal Recessive Spastic Ataxia level 4. Symptoms of this gene mutation began in early childhood with progressive cerebellar ataxia, spastic paraparesis, epilepsy and speech difficulties.

In 2005, the disease appeared in my eldest son then in 2010, the disease appeared in my second son.The doctors linked the events together, and in 2014, tests and research began, followed by the results that gradually clarified everything and provided us with a diagnosis.

The doctors explained everything related to the gene mutation responsible. We were told that mitochondrial disorders are among the rarest diseases and no cure exists.

The first step after the shock was accepting the diagnosis. The second was searching for ways to treat the disorder, providing complete care at home and focusing on the boy’s remaining skills and functions that needed greater support, such as physical, occupational and speech therapy, appropriate medications, and appropriate food.

The boys received their annual flu vaccines, supplements, and nutrition-based formulas containing protein to support their muscles.

My eldest son passed away in 2018, and recently I lost my youngest in 2024. It has been a long journey managing and caring for my sons and their illnesses, especially when they were admitted to the hospital. Each was hospitalized for months, suffered from long symptoms, and then discharged with difficulties like weakness in muscles, tracheotomy, epilepsy, exhaustion, feeding through a nose tube, pumping chest, bedsores, oxygen concentrator machine, nebulizer, a new heart medication, multivitamins, and supplements for seizures.

Their little bodies had to manage so much. They were little heroes, so strong and brave, but their mito was like a monster that didn’t give their bodies a chance to revive. So, they went in peace with no warning.

Every girl plans their ideal future, life with a house, a husband and children. I was blessed with two sons who were my hope and the loves of my life, but life becomes complicated when God Almighty decrees for you a path that you will take that is different from your dreams. I have realized that this is a test from God, and I must begin a new path.

My boys were my ambition and career; I sacrificed a lot for them. I learned from them what it means to have another chance in life; even when they had few remaining skills, they would try to live in good health despite medical difficulties and were seen as having much determination.

My experience with my children and my understanding of mitochondrial disorders and rare diseases motivated me to work with the MENA Organization for Rare Diseases. I will continue on my journey and help others and future generations manage and possibly diminish the suffering so many families have endured.

I believe all mitochondrial disorder patients deserve to live normal lives and inspire the community. That can only happen if we focus on vital medical research needed to help our future generations and bring genetic testing to the forefront of medical investigation.

It is incredibly important to spread awareness of the importance of genetic testing and genetic research, attend conferences, and listen to and learn from past or present experiences.

As a founding member of MENA and a patient advocate for rare diseases, I support people and families who face many difficulties because of the scarce knowledge about these conditions and the limited support available for them.

Dear MitoCanada Community Members

My name is John Fisher, and I am the President & CEO and sole shareholder of a niche environmental and occupational health and safety consulting firm with offices in Ontario and Quebec. Personally, I live in Mississauga, have been married to Diane for almost 39 years and am a proud father of three young men. I certainly am lucky as Diane was able to see beyond the physical characteristics even before I had the mito diagnosis. I also take great pride in obtaining my MBA in 2021 at the age of 59.

I was diagnosed with mitochondrial myopathy in 1982. When I was informed of this diagnosis, I was told that I was 1 in a million. During my muscle biopsy, I had my eyelids attached to my eyebrow muscles to prevent my eyelids from drooping again. It was later conveyed to me that I had CPEO. Being diagnosed with mito over 40 years ago allows me the latitude to reflect on what life with mito has been for me. To put it simply, it has provided challenges. I have experienced ignorance and discrimination because of the way I look and sound. I have not been able to perform functions to the degree of success I would have liked from a sports and physical strength perspective. While I know my condition is affecting me as I age (Chronic and progressive), I also subscribe to the fact that this is also a function of aging. Thus, it is hard to differentiate which is having the greatest effect.

I am a “why not me” person. I have not let my “disabilities” stop me from achieving what I want to achieve. I recognize that some of this has not been possible because of my diagnosis and the realities of my body, but having this condition has emboldened me to show people why they are wrong in their assumptions or perceptions. I currently sit on two boards and chair and co-chair numerous committees. I am currently chair of the board of an organization that provides support services to adults with developmental disabilities. This cause is very dear to me as someone who has been deemed to be of the same persuasion at times.

To be totally vulnerable and candid, there have been times when I have questioned my own abilities. I have suffered from “imposter syndrome” on occasion. I no longer play golf as I don’t have the capacity to hit the ball to an extent that does not cause considerable embarrassment for me. I get frustrated when I clearly enunciate in my head the words I am trying to articulate, but I know the person receiving the message has no idea what I am speaking about.  I am totally averse to picture taking as seeing my mouth open in so many pictures is another form of embarrassment for me and does not portray who I think I am.

Some of the above has dissipated since becoming aware of MitoCanada. I have come to appreciate the educational and advocacy aspect of the organization. But more importantly, the sense of community that is being built. On this basis, I am becoming an active participant by giving my time and money to the cause, and I don’t look at the organization from my own specific needs but those of the community. I would suggest there is comfort in knowing there is a group like MitoCanada advocating for those who may not be able to do so on their own. Life is good, and being diagnosed with a mitochondrial disorder does not mean you can’t live a very productive, successful and happy life.

John

“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.

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.

Adapting and Thriving

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).
• Staying hydrated
• 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.