EmilyIng

About Emily Ing

This author has not yet filled in any details.
So far Emily Ing has created 13 blog entries.

Community Corner with Hala Abass

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.

Read More

Dave and Victoria Mosher

Victoria Mosher has a superpower. Wherever she goes, she brightens people’s day with her positivity and bright smile. Victoria’s sweet, affectionate nature and relentless optimism are undeniable despite the immense adversity she’s encountered throughout her life. Diagnosed with mitochondrial disease and autism, Victoria is non-verbal, relies on a G-tube for sustenance, takes a daily cocktail of supplements to ensure adequate nutrition, and faces physical challenges due to muscle weakness.

At 15 months old, Victoria had a high fever. Her parents took her to Credit Valley Hospital just to be safe, as she was a bit small for her age. “Within an hour or two, things went really badly,” says her dad, Dave, of Burlington, Ont. “She crashed. The doctors told her mother and me that we should call our parents and bring in support, which is code for ‘this isn’t going to end well.’”

Victoria’s blood work showed lactic acidosis – the accumulation of lactic acid in the blood, signalling a potential metabolic problem – and she was whisked to SickKids by ambulance. It was a harrowing experience. Doctors stabilized Victoria but she went into a week-long coma and when she woke up, she had a brain injury.

“She could no longer control her movements. She had to get a G-tube because she couldn’t swallow,” says Dave. “It was about as awful as can be. But I’ve never met somebody more determined than Victoria.” Putting forth immense effort, Victoria learned how to sit, then scoot, then crawl. Despite her newly-impaired motor skills, Victoria eventually learned to walk. “It took years, but she did it,” says Dave.

Doctors mapped Victoria’s DNA and figured out the genetic mutation she had. It took about four years before the family finally had a diagnosis: thiamine metabolism dysfunction syndrome type 4.

“When Victoria first got diagnosed, it was pretty scary,” says Dave. “As a parent, I felt helpless. And I felt like I owed the system for saving her life – which the SickKids medical team truly did, by diagnosing and treating her properly. That indebtedness to the health system motivated me to get into healthcare, which I now work in.”

This sense of earnestness, sincerity, and dedication perfectly highlights the type of person Dave is: a compassionate, grateful, and resilient individual who’s driven by a sense of purpose to make a positive impact in healthcare and who chose to be inspired by his daughter’s journey with a rare disease rather than allowing himself to be overwhelmed by despair or adversity. That’s not to say there haven’t been any hardships, of course.

Because she has autism, Victoria loves routine. She splits her time between her mother and her father’s homes. Victoria, her mother’s, and Dave’s daily schedule involves structured activities intertwined with caregiving responsibilities. Victoria’s supervision and seven daily G-tube feeds – complicate even simple tasks like mowing the lawn. “She needs careful supervision, so cannot be left on her own,” says Dave.

Although Victoria has graduated from high school, three times a week she participates in a day program which offers recreational opportunities for people with autism. “There’s a bit of a tendency for people with autism to be inwardly focused,” says Dave. “We want Victoria to be interacting with people and having adventures and new experiences. The day program gets her out in the world.”

At home, Victoria loves playing with puppets and stuffed animals, playing games on her iPad, and going on car rides and errands with her mom or dad. She’s also a huge fan of listening to music and watching music videos. “She loves all kinds of music,” says Dave. Victoria is perfectly content listening to her dad’s music – whether it’s Elvis Costello or the Rolling Stones – and she also enjoys pop music, rapper Pitbull, and whichever artist was featured most recently on Sesame Street. When she’s in the car and music isn’t playing, she reaches for the screen, eager to start it up.

“When you’ve got a child with special needs, you worry that people will look at them as a collection of their disabilities,” says Dave. “Victoria is so amazing as a person, and everybody who spends time with her just falls in love with her. When she graduated high school, all her teachers were sad that she was leaving because she’s so unrelentingly positive and happy and affectionate.”

While Victoria is incredibly loveable, Dave notes that it can be hard for people to get to know her. “Because she’s nonverbal and doesn’t write, she doesn’t really have a good way to communicate,” he says. “It’s hard to get to know her unless you spend time with her.”

Despite not speaking, Victoria communicates non-verbally. “She’ll show me what she wants,” says Dave. “For example, if the internet goes down and she’s playing with her iPad, she’ll come running to get me, take my hand, and pull me over to the iPad to show that the internet’s not working. Or if we’re at somebody’s house and she wants to leave, she’ll come and get me and hold my hand and walk me to the door. If that doesn’t work, she’ll bring me the car keys, and then her shoes, until I have a pile of things around me that represent leaving.”

Even when things don’t go her way, Victoria’s steadfast positivity and cheerful outlook on life remain intact. “I try to learn that from her,” says Dave. “She was just in the hospital recently, and they’re poking her to give her an IV and drawing blood. Those things hurt. But five minutes later, Victoria is laughing and smiling, being her cheerful self. Things just bounce off her. She always maintains her positive disposition. I only wish I could do that, too, sometimes.”

Dave rejects sympathy in favour of understanding and appreciation, highlighting the need for improved diagnostic processes and respite care. “It’s not easy to get a proper mitochondrial disease diagnosis,” he says. “One thing the MitoCommunity needs is for it to be easier to diagnose patients because getting a diagnosis is crucial. The second thing the community needs is respite. People living with mito need a lot of care. Having some sort of respite program where they’d be safe for a week at a camp, so caregivers could go on a trip to re-energize themselves, would be really helpful.”

One thing the MitoCommunity doesn’t need, according to Dave, is sympathy. “I’m so proud of Victoria,” he says. “I don’t want people feeling sorry for her.”

At nearly 22 years of age, Victoria should have the whole world ahead of her. But because of her diagnoses and complex medical needs, Dave worries about her future. “She requires 100% care,” he says. “As I and her mother get older, who will be there to provide that care?”

Despite his fears, Dave remains hopeful for a fulfilling future for Victoria outside their insular world, filled with new experiences. “I want to make sure that she’s out and meeting new people and developing relationships and having experiences,” he says. “That’s important.”

Having a child with mito has impacted Dave’s life in many ways, but most importantly, it has brought him immense happiness. “Seeing Victoria happy and playful brings me great pleasure,” he says. “I wish more people could get to know her and experience the joy that she can bring.”

Read More

Community Corner with John Fisher

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

Read More

Life with Evan

I’m Evan’s dad. I’m also Julia’s dad, Sarah’s husband, an endurance junkie, MitoCanada’s co-founder, and the CEO of a digital health company called Lumiio. Today, though, I want to tell you about my son Evan and what it’s like to be his dad.

Evan was the happiest little boy. We’re a super active family, so when he was young we were always hiking, skiing, and playing outside together. He loved that. And he was really cheeky. He had this coy sense of humour and a glint in his eye.

I wish we’d known that Evan had dysfunctional mitochondria and was at a high risk of developing a mitochondrial disease. If we’d known, it would have changed our whole approach to his exposure to stressors. Hindsight is 20/20.

Evan’s disease onset was sudden. When he was four, Evan woke up one day with stomach pain. Doctors suspected appendicitis and recommended surgery. Unfortunately, surgery and anesthetic are pretty major stressors.

During the surgery, Evan suffered a significant brain injury. He was initially diagnosed with acute disseminated encephalomyelitis (ADEM), which is a neurological disorder characterized by brief but widespread inflammation in the brain and spinal cord that damages the myelin. Overnight, Evan became non-verbal and needed to be tube-fed. Nine out of ten kids would fully recover from this, so we didn’t panic – we thought we were dealing with an acute brain injury, and that we’d see a lot of improvement. But when Evan didn’t improve and started developing seizures, his clinical team realized something more was going on.

It took us a while to accept that he wasn’t going to improve – that he’d be in a wheelchair and need to be tube-fed probably for life.

It was such an abrupt, jarring change. It turned our lives completely upside down. And there was a massive amount of grief. We lost a lot of the Evan we knew and loved, and we also mourned the loss of this whole life that we had envisioned for him, that we’d thought was ahead of us. Suddenly, the future looked so different from what we’d imagined – for Evan and for all of us.

It took about a year of testing for Evan to get a clinical diagnosis of mitochondrial disease. Fifteen years later, we still don’t know the underlying genetic cause for his disease (even after completing DNA sequencing three times).

Life with mito has been tough for Evan. Not being able to communicate has been a massive challenge and source of frustration. He’s dealt with chronic pain and many surgeries over the years. Evan’s muscles are always turned on and he suffers from chronic seizures, so he’s on a lot of medications, which have a lot of side effects.

It has also been a challenge navigating Evan’s care. When he was little, he was almost like a baby. We could just pick him up and move him around – it was fairly easy physically. But as he got older and heavier, that became more and more challenging. It was hard on our backs, lifting him in and out of the car or wherever. Eventually, it came to a point where we could no longer do it. We’ve had to shoulder the costs of adaptive devices, wheelchair-accessible vehicles, and a wheelchair-accessible home.

Despite the challenges, we always reminded ourselves that Evan was still with us. He could still smile and we could tell that he had quality of life. Sarah and I are optimistic people. We’re really just focused on the here and now, and on trying to give Evan the best life that we can, because we don’t know how long it’s going to last.

When Evan was first diagnosed, we quickly realized that there was nowhere to turn in Canada to find support with navigating the mitochondrial disease health care journey, connecting with others, or learning about mito. At a United Mitochondrial Disease Foundation conference in the U.S., I met several other Canadian families. We said, “Hey, we need to do something back in Canada.”

So we co-founded MitoCanada to help build awareness, increase education, and advance research and clinical knowledge while also preventing mitochondrial diseases from manifesting in others. We became a registered charity in 2010, and the rest is history.

Co-founding MitoCanada helped me on a personal level, too. When Evan got sick, I felt helpless that I couldn’t do more for my child. Starting the organization made me feel less helpless and knowing that we could potentially help others was also uplifting.

Evan is 19 years old now. He loves music, getting outside for walks, and watching shows and movies on his iPad. He’s a huge fan of Frozen! And he still has that glint in his eye and his sense of humour – I see it in the books he enjoys, like the Pigeon book series by Mo Willems. Seeing Evan smile brings us so much joy.

The last few years have probably been Evan’s most comfortable and best years. He recently graduated high school, which he loved. He made some great connections with his teachers and classmates – he has a way with people, and is super expressive and engaging in communicating through his eyes. The transition from pediatric to adult care has gone smoothly, which is fantastic and better than we expected.

Another big change was Evan moving into a group home about 16 months ago. It’s been a big change for everyone and great for him. He has three adult roommates so he has some amazing social stimulation and interaction. He’s doing really well!

And now for the first time, our house is our own. We had so many caregivers and nurses coming and going over the years, looking after Evan, that there was basically no privacy in our home. Now, we’re spending more time together as a family and enjoying more quality time with our daughter Julia, who’s in grade 12. Fortunately, Evan only lives a 10-minute drive away so we can pop over to visit him anytime.

Here are some of my takeaways from my story and life with Evan. Never give up advocating for yourself or a loved one. Sarah and I were relentless in trying to find answers for Evan – and for every problem, truly, there’s a solution. Also – look after your mitochondrial health. The best way to do that is through exercising and living as healthy a lifestyle as possible. And finally, find community. I’m so grateful for MitoCanada and our MitoCommunity. The people who rally around this cause have been unbelievable and we’ve done some incredible work as an organization.

Read More

Angela Tomasone

On a Sunday morning in early December 2021, the pregnancy test read positive. I went into our bedroom, and my husband, Michael and our dog, Timmy, started jumping in the bed out of excitement when I shared the news. I was blessed to have an easy pregnancy—she treated me so well.

Michael and I spent the months leading up to August guessing what the gender would be, researching baby items, rearranging furniture, picturing how our lives would change, and imagining life with a baby. On July 31st, 2022, we got the call that we needed to head to the hospital, and I needed to be induced. Two weeks ahead of our due date, Genevieve knew we needed more time with her.

With music playing and labouring through the night, our baby arrived at 7:43 am on August 1st, 2022, to which Michael announced, “It’s a girl!” We named her Genevieve, a name we had agreed upon since before we were married, meaning “of the race of women” and “guardian goddess.”

Genevieve was the sweetest newborn baby, with a full head of hair and long eyelashes. Her eyes at birth and onward were always wide open, always so intrigued by the world around her. She quickly grew and changed, and her big expressive eyes would make for the best faces. She loved to be held by mommy, in a position where she could look at her daddy, who was undoubtedly herfavourite person in the world. Part of him may have hoped for a boy during pregnancy, but Genevieve had her daddy wrapped around his finger in no time. We were blessed to celebrate Thanksgiving, Halloween, Christmas, and Valentine’s Day with Genevieve. The turkey was bigger than her, Genevieve had and we were especially grateful.

Mommy made her Halloween costume an arts and crafts project—spaghetti and meatballs will never be the same. This Christmas was magical, decorating the tree with new ornaments for her, reading her the Christmas story, photos with Santa, all her Christmas outfits, and sharing the joy with our families and friends.

On January 1st, Genevieve saw a New Year, and a few days later, she went on her first plane ride to Florida! There, we began to experience bottle refusal and some other signs that were concerning, such as vomiting and her overall muscle tone becoming weaker.

We’d return from our trip and make appointments to see a physiotherapist, occupational therapist, and optometrist and went in for a weight check, all anxiously awaiting our six-month visit with our pediatrician.

Genevieve was baptized and celebrated by her immediate family on Sunday, February 5th, two days before the most difficult month of our lives began. The signs that our pediatrician saw led her to believe that something was wrong.

We made our way directly to SickKids, receiving the best care by the nurses and doctors, and became quite popular on the seventh floor as the “cutest baby with the long eyelashes.”

In this  month, she demonstrated bravery and strength through numerous tests all with a smile on her face, charming each person she encountered.

After a barrage of tests—being moved from neurology to metabolics—the doctors told us that they unfortunately suspected Genevieve had Leigh syndrome. We were given so much information and medical vocabulary that overwhelmed us. The only things that stood out to us from that initial conversation were that there was no cure, and that it could be fatal.

That day, our families rushed to our sides as we processed what this would all mean. Genevieve received an NG feeding tube that day as well, which in turn allowed her energy to perk up, and we focused on being as present as possible with our baby girl who was still smiling at her mommy and daddy, unknowing of the anxiety and fear we were experiencing for her.

We were discharged for Family Day weekend, as if she knew we needed one last weekend as a family at home, only to return the Tuesday after. Genevieve caught a virus that would lead to a “Code Blue – Respiratory Arrest.” Once more, our families rushed to our sides as we’d experience the terrifying world of the ICU. By God’s grace, she was awake and able to be extubated 48 hours later.

We cautiously enjoyed another week with our baby girl back up on the seventh floor, anxiously watching her vitals on the monitor. She smiled with us for a few days longer, but inevitably had a repeat Code Blue event leading us back to the ICU, and unfortunately, this time with not much promise that she’d wake again.

On March 8th, 2023 at 11:44 am, we held our daughter in our arms as she took her last breath. It was a bright and sunny day, which was also International Women’s Day. Each of her pediatricians, specialists, ICU doctor, and nurses were women. Our brave girl lives up to her name “of the race of women” and is now our “guardian goddess.”

Her seven months on earth with us were too short, but as you can see it was filled with memories, love, and laughter. Do not feel sad for us, because although this grief is immensely heavy and always will be, it is all because of the immense love we have and always will have for our baby girl, Genevieve.

We are now focusing our deep love for Genevieve into carrying on her journey and honouring her memory, so that her legacy can live forever.

We’re looking forward to participating in the Walk N’ Roll 4 Mito, and we’re overwhelmed with gratitude that we’ve been able to fundraise over $22,000. It is our hope that we can increase awareness of mitochondrial disease and connect with families who have experienced a similar loss.

Read More

Community Corner with Hazel Currie

“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.

Read More

Community Corner with Keith Meldrum

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.

Read More

Community Corner with Alyson Maxwell

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.

Read More

Megan and Rich

Celebrating Each Other at the Calgary Marathon

If you were celebrating your 20th wedding anniversary, what would you do? Well, if you’re Megan and Rich MacDonald, you’d pull out the handcuffs and start running. Over-the-top romantic, right? Actually, it is.

On Sunday, May 28th, 2023 Megan and Rich ran an intimate race with thousands of others at the Calgary Marathon but, their experience was especially unique. The couple was handcuffed. As they ran the 42.2 km event in 3:18:38 they celebrated their relationship, brought awareness to mitochondrial health and disease, raised over $10,000 for MitoCanada, and smashed another Guinness World Record beating the previous Guinness World Record for the fastest marathon by a mixed couple handcuffed together by 25 minutes (fun fact Megan and Rich already have five GWRs between them, now six)!

“If Rich and I are going to run handcuffed together for 42.2 kms, we want to ensure we gain as much benefit for MitoCanada as we possibly can,” says Megan. The MacDonald’s have supported MitoCanada since its inception, over 10 years ago. Their dedication to the charity began when the life of their friend’s son, Evan, was changed forever because of the disease.

After a short illness, Evan’s mitochondria could no longer produce the energy he needed for his muscles and organs to function properly.

“Despite devastating circumstances and having to face significant challenges every day,” Rich states compassionately, “Sarah and Blaine Penny inspire us with their strength, commitment to the community, support for others, and their keenness to do extraordinary events to raise money for the charity they co-founded!”

In addition to supporting MitoCanada, the MacDonald’s are also helping to make the Calgary Marathon greener. They are the Sustainability Partner of the 2023 Calgary Marathon through their company, Fluid Projects Consulting. Fluid is passionate about healthy lifestyles and the importance of movement to foster physical, mental, and emotional well- being. The company also promotes strategies to help reduce waste and harm to the environment. This includes activities at the big event.

“We support each other but also challenge and push each other be better people,” says Megan.

The MitoCommunity recognizes this couple as amazing people – on so many levels. They have supported MitoCanada tirelessly throughout the years as volunteers and advocates. They are passionate about meeting their personal goals and helping MitoCanada realize its vision of creating a world where all lives are energized by healthy mitochondria.

  • Megan and Rich were each a part of the MitoCanada Men’s and Women’s teams who broke the GWR for the furthest distance run on a treadmill in 24hrs.
  • Megan was a member of the MitoCanada team of ten women linked together who broke the GWR for the fastest female linked marathon while running the Calgary Marathon.
  • Rich was a member of the MitoCanada team that ran the Calgary Marathon in under three hours while pushing Evan Penny in his wheelchair.
  • Rich was a part of the MitoCanada team that secured the GWR for the most people to finish a marathon while linked together. He says being a member of the 112-person team tied together with surgical tubing was the most fun he has ever had while running and that getting everyone across the finish line, without having a single person dropping out, was an amazing example of team work and human perseverance.
Read More

Alyson Maxwell

Ever since she can remember, Alyson Maxwell has experienced chronic pain and near- constant headaches. Growing up in the ‘70s and ‘80s, Alyson knew she wasn’t quite like the other kids. “I used to randomly fall down the stairs – my legs would just give out,” she says. “I often tripped and my coordination was horrible. I’d play really hard with the other kids one day and then the next day I’d hang out on the couch with a book or play quietly by myself. I think that I knew, subconsciously, that I had to recharge my body.”

As a young adult, Alyson continued to be challenged by balance and coordination issues, severe GI problems, pain, and fatigue. Doctor visits were all dead ends. “Anytime I went to a new medical professional, the first thing they’d ask was my family medical history,” says Alyson. “I’d say, ‘I’m adopted,’ and that would end the conversation right there.”

One morning, in her mid-20s, Alyson woke up in particularly bad shape. The entire right side of her body was in extreme pain and her face was numb. Scans and tests turned up nothing. Alyson kept thinking, “What if there’s something in my family that I need to know about?”

Desperate for answers, Alyson registered with an adoption registry. Days later, the phone rang – they had a match.

Alyson met her birth mother, who had her own health challenges, which included profound hearing loss. The search for answers to Alyson’s growing list of symptoms continued. Doctors suspected that Alyson had reflex sympathetic dystrophy – a mysterious disorder causing long-lasting pain – and she was eventually diagnosed with fibromyalgia, but the diagnosis never quite fit. Medications prescribed to Alyson only made her symptoms worse, and doctors had no explanation for why her illness was progressing (fibromyalgia is not a progressive disease).

“I kept plugging along, trying to function, visiting specialist after specialist,” says Alyson. She repeatedly ended up in the ER, where she was accused of being a hypochondriac. “It was a journey of being disbelieved every- where I turned,” she says. It was only after Alyson’s birth mother had a stroke and was diagnosed with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), a mitochondrial disease primarily affecting the nervous system and muscles, that Alyson began to learn about the condition that had plagued her all her life. “As I read about MELAS symptoms, I was like, ‘Oh, this explains everything,’” says Alyson. “Light bulbs were going off.” After genetic testing, the mystery was finally solved. Alyson would finally be diagnosed with MELAS, at age 44.

Helping community members navigate information and resources and providing peer support is so rewarding.

Since being diagnosed, Alyson has immersed herself in the world of patient support and advocacy. “Helping community members navigate information and resources and providing peer support is so rewarding,” says Alyson. “Helping people was part of my career for the 22 years I worked at a credit union. I miss that part of my identity and my work life, which I had to give up.” Alyson is an administrator on a few mitochondrial disease-related Facebook groups and a member of several more. She checks in regularly to add to the conversations and answer questions.

“Being able to help people has been a great outlet for me and has given me purpose,” says Alyson.

Life is relatively quiet for this Red Deer, AB, resident. “Sometimes I feel like I just exist, but I don’t,” says Alyson. “I fight to do what I do and I get enjoyment from it. I’m content.” Alyson has made peace with the fact that leaving her job was best for her health, and she is now on disability benefits. She has learned to listen to her her body and to conserve her energy. From waking up “feeling like the Tin Man” to evenings where her brain fog can feel insurmountable, Alyson’s symptoms are never-ending and dictate the rhythm of her days. She experiences constant muscle weakness, muscle pain, difficulty walking, headaches, and fatigue. Nonetheless, she has crafted a balanced daily routine full of activities she enjoys and that enrich her life: cooking (“I use food as medicine,” says Alyson), reading, socializing with her neighbours, and either exercising lightly in the building’s gym or going for a walk on the nearby nature trails.

“I try to find something to be grateful for every day,” says Alyson.

“It’s not the big fantastic things I’m grateful for – it’s the small things.” It could be the chirping of a songbird on her lilac bush, a great song on her playlist (depending on the day, it might be Frank Sinatra, AC/DC, or U2!), snuggles with her two senior cats, or gratitude for her husband, who has supported her every step of her journey.

“My superpower is having a mindset that won’t allow me to be defeated,” says Alyson.

“Being a willing participant in maintaining good health is huge for me. I have bad days and I throw myself a pity party once in a while, but I can’t park there.” Processing grief and disappointment has been an unavoidable part of Alyson’s journey. She’s had to let dreams go, as has her husband – like their wish to explore Eastern Canada.

But despite it all, she maintains a positive attitude of gratitude, optimism, and hope. “I have hope that there will someday be a proper treatment for mito and possibly a cure, but I can’t just sit around being complacent waiting for it,” says Alyson. “I need to make sure I keep trying and challenging myself, and that I don’t compare my accomplishments to anyone else’s.”

Read More
© Copyright 2024 MitoCanada.
Go to Top