Faces of Mito

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.”

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Remembering Charlie: The Leitis family shares their story

Dani and Charlie pose for a selfieBefore they knew what mitochondrial disease was, Dani and Ivars Leitis had what they considered to be the perfect family. Their daughter, Riley, was thrilled to have become a big sister at the age of seven, and baby Charlie (born June 4, 2021) was reaching all his milestones. “Everything in our lives was going well,” says Ivars. “We didn’t have everything, but we had it all.”

“We had no clue that Charlie was silently fighting a battle that would lead to a devastating loss,” says Dani. Charlie smiles to the camera as Ivars holds him

Charlie was big on snuggles and loved being held. “His favourite place was intently watching the world over Ivars’ left shoulder,” says Dani. “He had the greatest smile and laugh and big beautiful eyes. He was always watching what was going on around him.”

Charlie loved to make music, hum along to songs, play with his toys and the family’s dog Dusty, and scoot down the hall to his big sister’s room to see her. “The way Charlie’s face lit up for Riley was filled with pure love,” says Dani. Riley loved to give him piggyback rides, which were guaranteed to make him smile or laugh.

While Charlie was a happy, playful toddler, he faced challenges from the start. “He was very demanding in his first year as he was extremely fussy,” says Dani. “He struggled with breastfeeding. He seemed to get tired, as though it was a lot of work, and we ended up having to supplement with formula. We noticed he sometimes made a gurgling noise when he was breathing, but we were told that he just had underdeveloped vocal cords because he was premature. He had a ‘slight nystagmus’ we were told, which is involuntary eye movement. He also had what we thought were breath-holding spells. He’d cry so hard he’d stop breathing.

As it continued to progress, he’d go completely stiff – arching his back, his hands and toes would curl up and he looked like all the muscles in his body were seizing.” A visit to the family doctor sent Charlie into one of these spells. Witnessing it in person, the doctor became concerned that Charlie may be having seizures and referred him to a pediatrician. This would be the first time a pediatrician would dismiss concerns without any testing.

Desperate Pleas for Help

“Charlie started to seem a lot better after his first birthday,” says Dani. “The gurgle was gone and the breath-holding spells had nearly stopped. He continued meeting his milestones. But somewhere after the 16-month mark, we started noticing that Charlie was losing weight. He had been walking with support since 10 months but wouldn’t progress.  He also wasn’t using his words anymore. It happened so quickly.” The family doctor once again put in referrals for pediatricians, but it wouldn’t be until 19 months – January 2023, with desperate pleas from the family doctor – that two more pediatricians would finally accept Charlie as a patient. Charlie smiles for the camera

The family’s concerns were mostly dismissed by the first pediatrician they saw and they were told to check back in four months. Unfortunately, Charlie didn’t have four months.

Unsatisfied, the family moved on to a third pediatrician. She ordered blood work, tests, and referrals, including a dietitian and an occupational therapist (OT) who would support the family at home. The OT noticed that Charlie slouched a lot in his highchair, causing fatigue, and that his oral muscles were taking a long time to fire at the beginning of a meal. They switched from a highchair to a booster chair, added dietitian-provided supplements, and incorporated special foods to wake up his muscles, along with unlimited amounts of his favourite foods – chicken nuggets, chocolate chip panettone, and chocolate milk – to increase calories. Charlie started gaining weight quickly. “He was even napping less,” says Dani. “We started noticing him figuring out new ways to move and engage with things and people.”

The Leitis’ optimism was high until March of 2023, when Charlie came down with COVID. Although he appeared to have recovered from the virus, he had a lingering cough and the gurgling was back. After a particularly difficult morning with his cough, the Leitis family took Charlie to McMaster Children’s Hospital for the first time. Charlie was prescribed a steroid inhaler in addition to a rescue inhaler he was already on, and they were sent on their way. Charlie smiles for the camera

Charlie appeared to start recovering and relief was setting in until late one evening he started choking more on his fluids at dinner. That night, Dani and Ivars were woken multiple times to Charlie screaming in his sleep, much like he was having a night terror – something his sister had experienced as a toddler.

The next morning, Charlie was not himself. “He had no interest in food,” Dani recalls. “He wouldn’t settle to nap and his breathing seemed weird. His eyelids were heavy and he was staring blankly at me.”

Dani took Charlie to the hospital, and Ivars met her there. Charlie was admitted right away. His oxygen was just 39%. Doctors were perplexed as he was not presenting like anyone with such low oxygen. Charlie would eventually be intubated. During this process, concerns arose that he may have suffered a seizure, but it was never confirmed.

Charlie spent two weeks in the hospital while doctors and specialists tried to determine the cause of his distress. His lungs were full of fluid, causing his left lung to collapse and bringing focus there, until an MRI test showed that his brain stem (which controls the lungs, speech, swallowing, eye movement, and more) was covered in lesions. With the damage to the brain stem, they couldn’t save his lung.

Charlie never came home. He earned his angel wings on April 10, 2023. The beloved little boy passed away in the arms of his mom, dad, and sister, two months short of turning two. Charlie and Riley smile for a photograph

Months later, his family received Charlie’s official diagnosis of Leigh syndrome, a rare and fatal genetic mitochondrial disease with no cure. Charlie’s Leigh syndrome was due to a gene deletion, making it an exceptionally rare case.

When asked if there’s anything they know now that they wish they’d known before, the Leitis family found it a difficult question. Charlie lived a normal life for a toddler.

Charlie holds on to Ivars during a Blue Jays GameThe family went to Sauble Beach, Santa’s Village, Canada’s Wonderland, Niagara Falls, and a Blue Jays game. Charlie took a music class, spent life at a dance studio, and saw Riley dance in two recitals. “These are all things that we wouldn’t have felt safe doing had we known he was immunocompromised,” says Dani.

“We often wonder whether we could have better protected him had we known sooner, but in us not knowing, Charlie was able to enjoy a better quality of life. We want to continue Charlie’s life by sharing his story,” says Ivars, “and we hope that sharing his story makes a difference in the life of another child. Our hope is that through his story and better awareness, health care specialists will see the signs and symptoms sooner.”

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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.

Living with Mito

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

Genevieve smiling with mini pumpkins for her first Thanksgiving

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.

Noticing Worrying Signs

Angela, Michael and Genevieve pose and smile for a photographOn 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.

Angela and Michael hold Genevieve close

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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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

Alyson and her husband pose and smile on a patio for a photograph 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.”

Searching for answers

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.

(more…)

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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’s Syndrome, 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.

We don’t know what we don’t know

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.”

Procyshyn family pose and smile at a football gamePlay 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.

Zach, his brother and mother pose and smile in front of flowersAs 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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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.

Superheroes Like Me book by Thomas Zachos front coverThomas 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.

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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.

Headshot of WalterWhen 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.

Bransonroach family pose and smile for a family portraitLife 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.”

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