Faces of Mito

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.

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.

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.

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.”

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.

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.

Thomas Zachos

Thomas Zachos is a beautiful young spirit who believes that everybody has a special purpose in life and that we can achieve anything — no matter who we are.

Living with mitochondrial disease for more than 10 years, Thomas says he is a fighter but admits that he struggles and that his journey is not easy. The disease has taken much away from him – the sports he loved to play, the freedom of movement, tireless energy – but it does not hold him back.  Instead, it inspires him to use his unique and brave perspective to encourage others.

Thomas is one of those exceptional people we cannot forget. His strength, attitude and kindness are apparent and admirable. He’s brought all those qualities into, Superheroes Like Me, a beautiful story written by Thomas. He says he wrote it because he wants to change how people look at those with disabilities. He wants to ensure that everyone is seen for the person they are on the inside and for children to embrace the truth that everyone can use their unique strengths to be their own kind of Superhero.

Through carefully chosen words and beautiful illustrations, Thomas asserts that we all have a very special purpose in life.

With the help of MitoCanada, Thomas’ book has been brought to life through animation.

Walter Bransonroach

Getting an early and accurate diagnosis can be the difference between a life fighting to survive and one filled with adventures and joy.

It was when Walter was approaching his first birthday that Erin felt that something was wrong with her son. He wasn’t meeting the developmental milestone of other children his age and his lips would turn blue when he cried.

Getting the proper diagnosis was hard – really hard.

Erin says she brushed off the early signs that something was wrong. At 12 months, he couldn’t sit up and had no words. We kept telling ourselves that boys develop more slowly. We thought he’d catch up.

When Walter didn’t pass an auditory test, the real search for answers began. “The first diagnosis we were given was cerebral palsy,” says Erin. “I remember being angry and feeling like we’d been brushed off after a very short consult. I was convinced the diagnosis was wrong. Although I did not believe my son had cerebral palsy,” adds Erin, “I did know that he needed help.”

Walter was referred to KidsAbility, a wonderful organization in Guelph, Ontario that helps kids reach their communication, social, physical and behavioral goals. A physiotherapist who worked with Walter, said that she too believed the initial diagnosis was wrong. She suggested he be seen by a developmental pediatrician at McMaster Children’s Hospital in Hamilton, Ontario.

Erin agreed to the consult which led to a series of tests, diagnosis by Dr. Mark Tarnopolsky, and the rewriting of Walter’s future. After blood work, a muscle biopsy, MRI, CT and genome sequencing, it was confirmed that Walter had Leigh syndrome resulting from a spontaneous mitochondrial DNA mutation. He was two-and-a-half years old.

Erin headed back to her computer to gather more information after the second diagnosis. What she read, scared her. “It didn’t take long to learn,” Erin recalls, “that Leigh’s was one of the really bad mitochondrial diseases.”

Symptoms of Leigh syndrome usually begin to appear between three and 24 months when the central nervous system begins to weaken. This includes the brain, spinal cord, and optic nerve. The illness can cause deterioration of motor skills, loss of appetite, vomiting, irritability, onset of seizures, generalized weakness, lack of muscle tone, and/or episodes of lactic acidosis which can affect lung and kidney function. Most children with Leigh’s do not live long.

Walter and his parents were determined to beat the odds. “In some ways,” says Erin, “we feel like we lucked out. At the time of his diagnosis, Walter was not in metabolic crisis and had no lesions in his brain. It is quite unusual to be diagnosed before the disease progresses to that point. We are so thankful that, to this day, he has not experienced metabolic crisis and his brain remains lesion-free.” When reflecting on the past, Erin says that the biggest piece of advice she has for other parents is to trust your gut and push for answers.

Dr. Tarnopolsky started Walter on a mito cocktail comprised of CoQ10, alpha lipoic acid, vitamins E and D, creatine, monohydrate and lots of iron. Within six months, Walter was walking and talking and has continued to advance ever since.

Walter is one of four children in a busy house that is full of energy. He is pictured left with his Mom and Dad, Erin and AJ, sisters, Petra and Sylvie, and little brother Marvin.

Life is good but not easy for Walter, who is now eight years old. He has braces to help him walk and sometimes needs to use a walker. He struggles with fine motor skills and lacks muscle control in his mouth, so he speaks slowly. And, when Walter gets sick with common colds or ailments, it takes him much longer to recover.

Erin says Walter has to work hard and tires easily. Because his body has less energy, he has to prioritize where he spends that energy. He knows that if he doesn’t, he will crash.

Erin believes that her son, now in grade 3, will have a wonderful future ahead of him. She credits Walter’s phenomenal success to an early diagnosis, the proper treatment and a strong spirit.

“We are so grateful Walter has been given the care he needs,” says Erin. “When we first got the diagnosis of mitochondrial disease, we didn’t know if he would make it to high school. I now know he has a future. He will have a job, be a contributing member of society, and continue to make people smile.”

Amelia and Cole

“I became a better Mom – and a better human — when I stopped hiding and pretending my life wasn’t going to be how I imaged,” says Cole Pruchnicki’s mom, Amelia. “I had to look deep inside myself and choose to accept my own vulnerability and succumb to our reality.”

Amelia, her husband Gerard, and sons Ethan and Cole are a family living with mitochondrial disease. Cole started showing signs of mito when he was just a year old.

Regularly experiencing seizures, being rushed to hospital by ambulance on a weekly basis, and being generally weak were normal for Cole. This young man has had multiple diagnoses over the years, first with Complex 1 Deficiency, then Leigh’s Disease and now, Pyruvate Dehydrogenase Complex Deficiency.

Cole was 7 when Amelia accepted that her son had a disability and changes were necessary. “Once I accepted our reality, everything changed. I needed to advocate   for myself and my son, learn to ask the right questions, and take advantage of the supports that were available. We started asking for — and accepting — help. We moved to a smaller community where many services were suddenly at our door. The relief was incredible.”

Amelia says that when they moved from Toronto to a smaller community, she found her tribe.  She contacted the Children’s Treatment Network (https://www.ctnsy.ca/). It was there that she connected with other families who had children with different diseases but similar challenges. She asserts that it has been life-changing to connect with a support team of people who have similar challenges but are working towards the same goals.

The love and mutual respect between Amelia and Cole are beautiful to witness. Amelia describes her younger son as a bright, easy- going, adaptable 13-year-old boy with a wonderful brain that moves too fast for his mouth and tongue to keep up with, and who takes everything in stride. They gaze at each other frequently, swap teasing remarks, and constantly share smiles and giggles.

Cole can walk on his own but uses a wheel- chair when outside of the house. While he has an iPad for communication, Cole likes to talk and sing — a lot. Amelia says singing is entertaining, but it also helps his breathing by strengthening muscles that don’t work well when he is tired.

Both Amelia and Gerard work hard to promote independence and mobility.

They believe it is important to keep Cole active and engaged. “He was quiet for a long time – watching and learning,” says Amelia. “We could see he knew what was going on around him, but he didn’t have the energy to participate.”

Cole was in a regular class for a long time but is now in the Learning Centre. Centre moves at a slower pace and Cole has an Educational Assistant for scribing to clarify instructions and deliverables.

Cole isn’t comfortable asking for help. He doesn’t want to be a bother to people which means his needs often go unmet.

Lately, he has learned to advocate for himself. He now has the courage to ask the teacher to slow down, clarify statements and repeat information when needed. This is improving his ability to learn.

COVID has been helpful for Cole’s academics. Although he, like most kids, wants to see his friends, remote learning has helped him be more successful. While at home, he has the flexibility to rest when he needs to and do things that are good for him to preserve his energy. Working on his own schedule has allowed him to work inside his comfort zone.

Amelia and Gerard sometimes ask their parents to help so they can have a break and recharge. In the early days, this simply wasn’t possible. Even going for coffee or dinner was difficult because the couple didn’t want to burden their parents with the responsibility of Cole’s complex needs. They also didn’t want to be too far away in case Cole went into distress.

“It’s different now,” Amelia says with a smile. “Cole is more independent, has fewer episodes, and Ethan plays an important role in his brother’s care.” Getting away and having a rest is important. Being able to do the things you still love matters. Amelia notes that she and Gerard always feel reenergized and experience a deep sense of gratitude when they return home.

Amelia confesses that she used to hope that her boy would be stronger; be better. Cole’s older brother Ethan was always ahead of the curve. He was walking at 10 months, athletic, good looking, super cool. Amelia wanted Cole to be like him saying it was almost like a competition with friends — my success as a parent was tied to how my children performed. When I finally realized that it wasn’t fair, for me or Cole, to make that comparison,” says Amelia, “I was humbled. I had to learn to stop judging the kids and myself. This realization changed me. It has changed the way I look at life and choose to raise my children.”

Ethan was only three when weekly visits from EMS were normal at the Pruchnicki home. Even at that early age, Cole’s older brother was watching, helping, and advocating for Cole. He would move the shoes out of the hallway to ensure there was a clear access path and unlock the front door.

Being Cole’s brother has made Ethan more mature and less judgmental. He helps grind medicine so it can pass easily through Cole’s g- tube, patiently waits when Cole needs extra time, and protects Cole from bullying.

He also accepts that ending visits or leaving events early is sometimes necessary. Amelia notes that they’ve stopped qualifying why they sometimes exit earlier than many other guests to remove any blame on Cole and that Ethan accepts his brother’s limitations.

Amelia will proudly assert that Ethan is very cognizant of Cole’s level of fatigue. He notices when Cole’s eyes get wobbly and he slurs his speech. Ethan knows this means Cole is tired and needs to rest. Although Amelia and Gerard ensure Ethan enjoys special opportunities created specifically for him, they soberly admit that if something happens to them, Ethan will be the only one with all the knowledge needed for Cole’s complex care.

“I had to learn to stop judging the kids and myself. This realization changed me. It has changed the way I look at life and choose to raise my children.”

Amelia offers the following words of wisdom for parents of children living with mito:

  • Seek out your tribe. When you are surrounded by the right people, life becomes easier – for everyone.
  • Don’t judge yourself or beat yourself up — it’s ok to be frustrated.
  • There will be problems that you can’t solve but it is important to keep to trying.
  • There is always hope. You can find solutions. They just may not look like you thought they would.

Amelia says she hasn’t wanted to look too far into the future because it stresses her out. She admits that not having answers is difficult but that as the days and years pass, they find new ways to cope and enjoy life.

What she does do, faithfully, is hope. Specifically, Amelia hopes for Cole to continue getting stronger and moving forward with little or no decline.

Today Cole is relatively healthy. Amelia credits much of Cole’s advancement in strength, which allows him to fully participate in and enjoy a fulfilling life, to managing his energy through a medically supervised ketogenic diet that is a low-carbohydrate, fat-rich eating plan where 60 – 70% of foods consumed come from“goodfats”. “Cole’seyessparklebrightly when he feels good,” says Amelia. “We don’t go off diet very often because the change in Cole’s energy is immediately impacted.”

The family works hard to set Cole up to succeed by making his environment safe and enabling him to do the things he wants to do because any gain in independence is a success. They want to push both boys towards the things that will be amazing for them; to seek out and discover what they are passionate about.

“I hope Cole continues to be a happy boy,” says Amelia. “Learning, laughing, and having the best life that he can. He has to own how he wants to live his life and we are here to support him.”

Marsha Crossman

It only takes one meeting with Marsha to be captivated her infectious smile. Right off the bat, you can feel her dedication and positivity.

Marsha has never allowed her shortcomings to limit her will to push forward. She always finds creative ways to be a part of the action!

Since her childhood, Marsha had to work twice as hard to keep up with her peers. The sports and activities she loved took an unimaginable toll on her body. She often questioned why this was the case but was never able to get the answers she needed until a minor mistake on a lab requisition changed her life forever.

By pure accident, Marsha’s family doctor checked off “CK” (Creatine Kinase, an enzyme that leaks out of damaged muscle). When Marsha’s CK levels were tested the results showed that her muscles were being destroyed by an abnormality.

This sparked Marsha to pursue unanswered questions as to why she was having this problem. Three years and four doctors later, Marsha was finally diagnosed with McArdle, a mitochondrial disease that manifests as a deficiency of muscle phosphorylase, causing fatigue and muscle pain during exercise in 2015.

Marsha was at a charity event for mitochondrial disease when she stumbled upon MitoCanada representatives and told them her story. After the event, MitoCanada helped Marsha obtain a referral for a metabolic specialist. Seeing this specialist helped Marsha manage her symptoms and understand what is happening with her muscles.

“Being properly diagnosed has given me peace of mind,” says Marsha. “Living my whole life without knowing the cause of my symptoms was challenging. Now that I know the reason for my symptoms, it is easier to move forward.

Marsha says her diagnosis, has given her a purpose in life. She wants to help people in her community get the care they deserve. Marsha is a pillar of the MitoCommunity in Saskatchewan. She helps put on numerous fundraising events and always makes herself available to the community. Marsha never loses hope because her efforts and work are justified by the increasing research for Mitochondrial disease.

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