Emily Ing - MitoCanada

Discovery Profile: Robert Screaton, PhD

MitoCanada partners with MITO2i to fund mitochondrial research that could introduce new therapies for breast cancer

Breast cancer is the number one cancer killer of women.

Improving survival and quality of life for patients with breast cancer is essential. We are however, limited by our ability to offer personalized therapies that reduce the risk of treatment-resistance and disease recurrence while minimizing the risks of toxicity associated with ineffective chemotherapeutic agents.

Therapy for patients with locally advanced breast cancer typically involves treatment with chemotherapy prior to surgery. Selecting the appropriate therapy often involves significant trial-and-error. Most patients receive a standard cocktail of drugs, but only about one-third have a positive and complete response. This highlights the need for personalized treatment.

Dr. Screaton and his team propose to identify genes in the mitochondria of cancer cells that maycontribute to their growth, survival and ability to develop resistance to chemotherapy.

It is known that cancer cells can use nutrients differently than normal cells. This raises the possibility of new strategies to kill them. These are called ‘mitochondrial metabolism vulnerabilities’.

This novel approach will be able to silence mitochondrial genes in locally advanced breast cancer cells taken directly from patients to identify tumour-specific vulnerabilities. These vulnerabilities can then be targeted alone, or in conjunction with lower doses of established therapies, to kill tumours more effectively and reduce side effects.

An exciting outcome of this work is the development of patient-specific therapies based on the patient’s tumour’s demonstrated drug sensitivities.

Robert Screaton, PhD | Senior Scientist at Sunnybrook Research Institute

Discovery Profile: Laura Rosella, PhD, MHSc

MitoCanada partners with MITO2i to fund an innovation grant to explain the health-system impact of mito disease and psychiatric conditions

Epidemiology is a branch of medicine that examines the incidence, distribution, and possible control of diseases and other factors relating to health. Incidence summarizes the number of individual who develop a disease or condition during a specific time period and indicates the likelihood that a person in a specific population will be affected by that condition.

Dr. Rosella’s study, The epidemiology and health system impact of mitochondrial disease and psychiatric conditions in Ontario: a population-based study, is the first to establish a methodological approach to measure mitochondrial disease from population data across Canada.

The overall goal of this study is to use linked population health databases to characterize the epidemiology of mitochondrial disease and the co-occurrence with mental health conditions in Ontario. Our specific objectives are to examine:

the health care burden and costs associated with mitochondrial disease in a population-based cohort in Ontario
the association between mood disorders and other mental health conditions in patients with mitochondrial disease and,
the joint impact of mental health conditions on the health care use, costs and mortality.

For the first time in Canada, we will

a) contribute key epidemiological evidence to inform health and health care for those living with mitochondrial conditions, and

b) further support hypotheses and research on the relationship between mitochondrial disease and mental health.

Funding for this innovation grant will allow us to build fundamental methodology that can be replicated across Canada and enable future international research to compare mitochondrial disease populations and further study of health care utilization and costs.

Laura Rosella, PhD, MHSc | Associate Professor, Dalla Lana School of Public Health, University of Toronto

Discovery Profile: Dr. Ingrid Tein

MitoCanada partners with MITO2i fund mitochondrial research that could improve quality of life for those with autism spectrum disorder

Autism spectrum disorder (ASD) occurs in 10-20 % of mitochondrial disorders.

ASD is a neurodevelopmentaldisorder that can cause significant social, communication and behavioural challenges. Those living with ASD have difficulty with social communication/ interactions and may engage in repetitive patterns of behaviour.

ASD occurs in approximately 10-20 % of people affected by mitochondrial disorders. Genetic mutations that are important in neuro-developmental genes can explain approximately20 % of ASDs. Metabolic factors may also impact up to 10-20 % of children. This includes abnormalities in the mitochondria and carnitine (Cn)-dependent system.

L-Cn is a safe vitamin that is important in generating energy for the brain, protecting it from excessive toxic free radicals, and helping neurotransmission.

It is often used to treat mitochondrial disorders. The brain has 3 Cn transporters. Dysfunction of one is associated with ADHD and ID. Certain children with ASD have had a positive response to Cn, particularly those with defects in the Cn pathway.

The earlier we can identify and treat children at risk, the greater the effect on brain development and quality of life.

Dr. Tein’s research aims to identify genetic risk variants in the Cn transporter and Cn biosynthesis gene families. It also plans to identify clinical risk factors leading to Cn deficiency in a group of children with ASD.

The approach will select children at risk for carnitine deficiency for potential future clinical trials in order toselect those who may have a positive response to Cn. The hope is that this will lead to improved social communication, attention, and learning for a subgroup children with ASD.

Dr. Ingrid Tein | Director, Neurometabolic Clinic, Hospital for Sick Children

Identification of Candidate Genetic Susceptibility Variants in the Carnitine Transporter and Carnitine Biosynthesis Gene Families in Autism Spectrum Disorder: A Novel Precision Medicine Target

Jodi Young and Family

“I often think of my life in two parts,” says Jodi Young. “There was ‘before my mom got sick’ and then there’s everything after.” From a young age, Jodi’s world shifted dramatically. In 2008 her mother, Brenda, once an active nurse and full-time parent, began to experience inexplicable health challenges at the age of 44 — a stroke, seizures, and a cascade of symptoms that ultimately led to a diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), a rare mitochondrial disease.

A drawn-out path to diagnosis

“It took a long time for my mom to finally get diagnosed with MELAS,” says Jodi. “I think it took about four-plus years for her to get an answer for her unexplained health problems,” adds Erika, Jodi’s older sister.

The sisters and their family had never even heard of mitochondrial disease (mito) — and neither had many of the health care practitioners in their hometown of Newfoundland and Labrador, which contributed to the long path to diagnosis.

With Brenda’s diagnosis came the awareness that Jodi and Erika would also be affected, as MELAS is inherited through maternal mitochondrial DNA, the genetic material you inherit only from your mother.

“My sister and I were aware of the maternal inheritance patterns of mito and thus received tentative diagnoses at the same time as our mom received hers,” says Erika. “In 2018, Jodi and I began seeing a metabolic disease specialist who requested DNA sequencing to confirm our diagnoses.”

“While I knew that my sister and I also would have the disorder,I didn’t get an official diagnosis until around 2019,” adds Jodi. “Erika and I got a needle muscle biopsy done by Dr. Tarnopolsky, a neuromuscular specialist at McMaster University in Hamilton, Ontario, rather than the open biopsy, which we would’ve received here in Newfoundland. This led to our official diagnoses.”

Living life with MELAS

While Jodi, Erika and their mother, Brenda, all have MELAS, the three of them are affected in different ways.

“I’m currently not experiencing any symptoms, but living with MELAS has affected my life in every way,” says Jodi. Erika, too, is symptom-free for now. “Every person’s experience with mito is different,” she says.

Still, Brenda’s diagnosis changed everything, not only for her but for Jodi, Erika, and their father, who became Brenda’s full-time caregiver.

“My mom quickly became unable to work,” says Jodi, now 25 years old, who was just 9 years old when her mom started experiencing symptoms. “She lost her independence, capacity to work, and ability to be a main caregiver to us in a short period of time,” adds Erika, who was 14 when her mom’s health challenges began. “Because of our mother’s disability, our father was not able to continue his career as a firefighter and has instead been our mom’s full-time caregiver for the last 16 years.”

An isolating and challenging disease

“Having a mom with mito has completely changed my life and the lives of my family,” says Jodi. “My home life was, and still is, very different from most people’s ‘normal.’ For most of my life, I’ve watched this disease take away not only my mom’s health and mental ability, but also so much from my dad, my sister, and me as well.”

Erika echoes her sister’s sentiments. “Having a mom with mito and then being diagnosed with the same condition affected every aspect of our childhood and young adulthood, and still affects our daily lives to this day,” she says.

Both sisters describe the isolation of navigating a rare disease in a community unfamiliar with mitochondrial disease. “I wish more medical professionals would educate themselves and learn about mitochondrial disorders,” says Jodi. “I’ve seen dozens of health care professionals in my life and aside from the doctor who diagnosed me (Dr. Tarnopolsky) and a geneticist, I can’t remember a single time when one of them knew what mitochondrial disease was, let alone a specific disorder like MELAS. I don’t think people realize how frustrating, tiring, and isolating it is to have to constantly explain your own condition to doctors, nurses, and other medical professionals.”

“It makes me sad and angry knowing how different my life would be if mito weren’t a part of it,” says Jodi. “Although I don’t experience any symptoms, MELAS has stolen so many important parts of my life, especially my childhood and teenage years, and it’s something that will affect me for the rest of my life.”

An unspoken bond

Despite — or perhaps because of — these challenges, the Young family has developed a rare closeness. “My sister, mom, dad, and I will always have an unspoken bond that comes with experiencing mito,” says Erika. “Mito has definitely brought us all closer together,” agrees Jodi. “Dealing with mito can be extremely isolating, especially here in Newfoundland where there are few resources for anything, let alone a rare disease. This forced us to be closer, because we only had each other.”

As the family leans on each other in a world that doesn’t fully understand their journey, they’ve come to find comfort, strength, and resilience in their unique bond. And while they carry this burden, they also carry hope — that one day, their story and others like it will foster a world with more understanding, awareness, and support for families living with mito.

Looking forward with hope

“I think it’s so incredibly important to keep raising awareness for mito research and funding opportunities,” says Jodi. “These disorders are severely under-diagnosed and unrepresented in literature and in medicine. The more funding there is for mito research, the closer everyone gets to living healthier and happier lives.”

Erika, too, looks forward to a future with increased interest and funding for mito research. “I hope for the furthering of the body of knowledge surrounding mito and MELAS,” she says. “These horrific diseases need effective treatments.”

The MitoCommunity needs more awareness, research, and support — as Jodi, Erika, and their parents can see so clearly. By sharing their story, they hope to help people understand how varied and complex mitochondrial disease can be, and how crucial it is for families like theirs to feel seen, supported, and understood. For them, raising awareness isn’t just about their own experience — it’s about helping to create a future where no family has to face mito alone and where effective treatments and understanding are within reach. Jodi and Erika each carry within them a quiet yet powerful hope — a hope for a world where mito patients and their loved ones can look forward to healthier, fuller lives.

As they build their own rich lives as young adults — Jodi is a mitoScholar who’s passionate about entomology(the study of insects) and who’s currently pursuing a PhD in plant-pollinator interactions, and a huge animal lover who finds joy in spending time with her partner and her pets (a dog, birds, sugar gliders, and a snake), while Erika is a soil researcher who loves travelling and partaking in outdoor activities with her spouse and her Australian Shepherd — the sisters remain ever-committed to their parents. “While I no longer live at home, I see my parents almost every day,” says Erika. “The negative consequences of MELAS are ever-present even though I live a full life and am not actively experiencing symptoms of the disease.”

And they remember, too, that their mother’s identity goes far beyond her illness. “Our mom wasn’t aware of her genetic condition before having me or my sister,” says Erika. “She was no different than any other person before the onset of her symptoms. She is and always was a great mom, wife, daughter, and nurse.”

For Jodi and Erika, Brenda remains an enduring example of resilience, strength, and love — a reminder that even amid mito’s challenges, a person’s spirit and impact can never be defined by illness alone.

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Community Corner with Hala Abass

Dear MitoCanada Community Members

Hello!

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

A shocking diagnosis

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.

Giving back

“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.

An indomitable spirit

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.

Getting to know Victoria

“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.”

Advocating for support and understanding

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.”

Looking forward to the future

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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Community Corner with John Fisher

Dear MitoCanada Community Members

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

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

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

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

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

John

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.

Co-Founding MitoCanada

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.

Life in 2023 and Takeaways

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

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

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

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

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

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Angela Tomasone

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

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

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

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

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

Noticing Worrying Signs

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.

Seeking Answers

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.

Genevieve's Legacy

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

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

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

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

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Community Corner with Hazel Currie

“I know I have MNGIE, but I refuse to be defined by it.”

I heard “you are so very brave” as the specialist looked me in the eye at my last appointment. I felt choked up and proud. Having an ultra-rare mitochondrial disease sometimes makes me wonder who I am now, what is my identity as a person with a health challenge?

Since being officially diagnosed with MNGIE (mitochondrial neurogastrointenstinal encephalomyopathy) in 2020, I have often wondered about this new definition of who I am. Am I Hazel-with-MNGIE now? Does a new health label soak into my sense of self and how others see me now? What is my identity? My being?

On the other hand… nothing has changed. I’m still the same person I always was – a mother, a working professional, a community champion – because I’ve always maintained an active lifestyle, eating a healthy and natural diet, and managing my symptoms, even before it was diagnosed.

Still, there have been modifications since my diagnosis: I’m now a volunteer ambassador for MitoCanada, I have a better understanding of my energy needs (starting slow where exercise is concerned, moving at my own pace and ensuring frequent intake of high calorie snacks), and I have more strategies of how to tackle nagging MNGIE symptoms. And along the way, I have met some amazing, inspirational fellow MNGIE patients around the world (there’s apparently only 200 of us).

I have first-hand knowledge of those energy needs, as I’ve spent the past four months training for a high elevation hike in Colorado. I’ve put in the kilometres, climbed a lot of elevation, and feel as though I’m ready. It doesn’t hurt that my hiking companions, who are incredibly fit triathletes, and long-time friends, are only too happy to move at my pace, enjoy the scenery, be flexible, and it’s enough to spend time together no matter what may transpire on the trail.

I was going to write about the diagnosis and how it mirrors the five stages of grief – denial, anger, bargaining, depression and acceptance – because there is certainly some of that, though I feel everyone’s journey with a rare disease is a very personal experience, lonely at times, and can’t be neatly defined.

I guess at the end of the day, I know I have MNGIE, but I refuse to be defined by it. I’m still me, my family (including two teenagers and a husband + many other relatives and friends) still need me. I still have lots to contribute in bringing attention to MNGIE and rare diseases to help all of those who deal with the day-to-day challenges they bring. Quite simply, if I can hike to the top of a mountain, then MNGIE can come along with me and we’ll overcome any limits it wants to place on me. And yes, “I am so very brave.”