EmilyIng

About Emily Ing

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So far Emily Ing has created 9 blog entries.

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.

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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.

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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.

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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.

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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.

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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.
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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.”

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Aiden Procyshyn

“Aiden is one of the happiest kids you’ll ever meet,” says his Mom, Bonnie Procyshyn. “My eldest son is easy going and has the greatest smile. Preferring people to toys, Aiden loves to connect and interact with others.”

When Aiden was born, Bonnie and her husband, Andrei, were told that his newborn screening showed some abnormal results. Despite not receiving a diagnosis for many months, the family was connected with a metabolic specialist. Aiden underwent many tests, but, as is so often the case, none were conclusive.

When Aiden was 6 months old, Bonnie started noticing developmental delays. He wasn’t hitting basic milestones, like sitting up. At nine months, he had no interest in solid foods and was hospitalized for concerns about his failure to thrive.

Aiden started having seizures around his first birthday. This precipitated a switch in focus from a metabolic care team to a neurological one. Whole Genome Sequencing (WGS) was ordered shortly thereafter. The results indicated that Aiden had Leigh’sSyndrome, a debilitating mitochondrial disease. He was 15 months old at this time. Bonnie and Andrei were told it was unlikely their son would see his fifth birthday.

“Aiden’s cells can’t generate enough energy for him to function the way he’d like to,” says Bonnie.

This means frequent naps, sensitivity to heat, and delays in movement and speech. Aiden’s mito is de novo, which means it is the result of a random genetic mutation that could not have been predicted. 97% of his cells are affected.

Before Aiden was born, Bonnie didn’t think about an unfamiliar illness gripping her child. “When you think about starting a family, you may hope for a boy or girl,” she says, “but you really just want a healthy child – that’s what’s important.”

After the possibility of a mitochondrial disorder was first mentioned by Aiden’s doctors, Bonnie and Andrei headed to the internet for information. Not knowing anything about mito, they wanted to learn all they could so they would understand how to help their son. In hindsight, Bonnie says that was a mistake. They found nothing but bad news and worst-case scenarios. It was scary and upsetting. Every change they saw in Aiden was concerning and they couldn’t help thinking the worst.

“Understanding your child’s diagnosis and their needs is critical,” says Bonnie. “As parents of children with mito, we need to learn a new vocabulary and integrate ourselves as part of the healthcare team.”

This can seem impossible when you are reeling from a child’s devastating diagnosis. And, although it is important to be given hope and to understand that the worst-case scenario is not always how it goes,

Bonnie asserts that the facts and brutal honesty are what parents really need in order to actively participate in and advocate for the care of their children.

Bonnie is a strong, energetic, empathetic mom and a dedicated CPA (Chartered Professional Accountant) who enjoys her career. She loves her two boys but concedes that life is challenging. She admits to being chronically tired and rarely being able to find time for herself.

The world is not designed for children with special needs. Planning a fun, family day trip, means concerns about safety, the need to pack special equipment, finding accessible activities and washrooms in the community, all while still having time and energy to enjoy the event.

Two of the biggest challenges for the Procyshyns are i) mobility and ii) time, especially as Aiden grows.

Now approximately 40 pounds, he is getting difficult to lift. They do have an electronic lift in their home, but find it cumbersome and time consuming to use.

Getting through everyday routines, like breakfast before heading out the door to daycare and work in the morning also takes extra time because of Aiden’s needs. Having someone come and help would be welcomed, but it is expensive and difficult to find someone willing to work for short periods of time each day.

Aiden is attending daycare rather than doing half days in kindergarten. Fortunately, their daycare has been fantastic and is next to a centre that offers support for children with special needs. Aiden receives physical, occupational and speech therapy from his amazing team.

Aiden also has Landon, his younger brother. The pair love being together. “Landon has compassion that is amazing to witness,” says Bonnie. “He brings Aiden toys, sings him songs, and can sense the rare occasions when Aiden is frustrated.”

Play is work for kids and Aiden and Landon have found the perfect workspace. They love playing in a bouncy castle that remained in the family basement after a birthday party! It helps Aiden move more and more independently. It’s also fun, soft, safe,surrounded by walls, and offers unintentional benefits like building core and grip strength.

All of the people, activities and devices Aiden has in his life are helping him break through barriers and defy the odds. He is thriving despite his diagnosis and is starting to support weight in his legs, can lift himself up to kneel, which means he can grab things for himself, and he can use a pummel walker with a harness that supports him to get around at home and at daycare.

Aiden and his family are living with challenges that few can understand. Although endless questions remain unanswered, Bonnie refuses to be discouraged. She knows every child is unique and this applies to Aiden. Her son will soon be a sensational six-year-old. He will be starting school next year in a stimulating environment where he will be surrounded by other kids and have the opportunity to develop into a stronger, more independent boy. While Bonnie and Andrei aren’t sure what Aiden’s long-term future will look like, they are loving life and the time they spend together.

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Zach Seymour

Zach Seymour is an expert at living with mitochondrial disease. He doesn’t have mito himself, but both his mother and brother do.

When Zach was 12, he was running the household. He was doing the family’s cleaning, helping raise his younger brother, and leaning on his grandparents to help balance everything.

During this time, Zach’s Mom was suffering from chronic fatigue and sleeping for 14 hours a day. As a single mother of two, she worked at several jobs to try to make ends meet — when she could.

She suspected mitochondrial disease but was unable to convince doctors in their small, rural town that this was a possibility. It was demoralizing, frustrating, and debilitating, as this lack of willingness to consider mito left them without a diagnosis.

No diagnosis also meant no treatment, relief, support, or hope.

Outsiders were unaware of the incredible challenges Zach and his family faced. The handsome young man did very well in school, he was captain of several sports teams, and, he didn’t complain or ask for help.

As a teenager, Zach felt he and his family were living in some strange sort of limbo. His brother also developed chronic fatigue. They knew that what they were experiencing wasn’t normal but there was no infrastructure in place to put them on the radar. Zach tried constantly to advocate for his family but was unsuccessful at getting them the care and support they needed.

When Zach was 16, he started experiencing similar symptoms to his mom and younger sibling. He was exhausted, often light-headed, and nauseous. He suffered from debilitating headaches and had trouble concentrating. His athletic abilities declined and his grades dropped. His hands started to tremble. He suffered from depression.

Zach believed he had developed mito. He had not. Zach had a 5.5 cm brain tumour which would be diagnosed three years later.

During the summer following his first year of university, Zach was rushed to a hospital in a major urban centre where he endured a 14-hour surgery to remove the brain tumor. Over the next weeks and months, he fought – and won – many battles. He had to learn to walk and talk again. He needed to regain the 30 pounds and the significant athletic muscle he’d lost. He was not the same person.

You’d think this experience would dampen his spirits but Zach says, “I felt like I was handed this golden opportunity. The monkey on my back was gone. I needed to start from ground zero but I was healthy for the first time in my life. I knew that I was capable of so much and would not only beat this but live to help others.”

And, helping others is just what Zach is doing as the newest addition to MitoCanada’s board of directors. He says he’s excited to be part of the mito community and eager to help the organization grow, increase awareness of the challenges mito patients face every day, and improve the lives of people living with mito.

This has already started with his mom and brother, who were finally diagnosed with mito. Zach supports them both. His brother is going to university. It is a slow process as he needs special accommodations such as extra time for exams, flexible deadlines, and time to rest when his muscles are weak. Zach says his brother is smart and determined but reluctantly accepts that he will need to find a non-conventional way to live as the traditional 9 to 5 routine is not an option. Zach’s brother also accepts that the individual he chooses to share his life with will also share some of his limitations.

“I am so thankful that my journey had an end date,” asserts Zach. “I am able to function way above normal and now I can give back to others.”  While his family used to struggle with feelings of isolation and hopelessness, Zach says, “my experience has motivated us all to find solutions. My commitment to MitoCanada will help us uncover those solutions.”

Determined to help create a world where there are treatments that can help everyone with mito, Zach wants the mito community to be healthier so they have the strength to complete the education they need to contribute, work to support themselves, and enjoy life.

Zach’s family continues to search for therapies that will resolve their symptoms. They both take a mito cocktail, exercise when they can, and are involved in a couple of clinical trials.

Zach remembers what it was like to go undiagnosed. “The affects of my illness will stay with me for the rest of my life,” he says. “It still makes me angry and anxious when I reflect back on the time my health concerns were ignored and I was labeled by teachers and coaches as lazy and wasting my talent and potential.”

Zach asserts that when you can’t advocate for yourself, you get left behind.

He wonders how those with less ability, knowledge and support than his strong and clever mother can be expected to advocate for themselves. He sympathizes for those who know they are capable of so much but are held back by something they can’t control.

As a former patient and patient advocate, Zach says that people need to keep telling their stories. He also emphasized that healthcare professionals need to truly listen to what patients have to say and empathize rather then jumping to a diagnosis before having the full picture.

Today, as a litigation lawyer, Zach proudly advocates for others. He says he wants to help those with mito regain –or experience for the first time –the ability to exercise their intellect, capitalize on their creativity, and feel like they can live healthy, fulsome lives.

While we are truly sorry that Zach and his family have been through so much, we are excited and thankful that this incredible survivor has chosen to share his passion, compassion, expertise and energy with MitoCanada.

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