EmilyIng

About Emily Ing

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So far Emily Ing has created 42 blog entries.

Community Corner with Alison and Adam

Adam’s Story

It’s been 29 years now, and nobody could have predicted how life would unfold. We were two healthy parents, and my daughter Lara was a healthy little girl. And then my son Adam arrived.

He, too, seemed to be a happy and thriving baby, hitting all his milestones. But around his first birthday, I started to notice some concerning signs. Adam lost weight, and every time I breastfed him, he vomited. When he started walking, he seemed to regain some strength – but it wasn’t long before new signs emerged. By the time Adam was three, he was showing signs of dystonia – a movement disorder that causes muscles to contract.

I started documenting things. We bought a video camera so I could record his episodes. I remember showing the videos to a neurologist, who said that Adam was a healthy boy. But soon after, Adam’s body started shutting down. He’d been showing more and more signs of lethargy, and when he was three years old we took him to SickKids, where he was admitted immediately.

After months of testing – including an invasive procedure where they took a muscle tissue sample from Adam’s leg to grow cells for analysis – he was diagnosed with Leigh syndrome, a rare and progressive mitochondrial disease. It was all pretty scary, but I did what I had to do as a mom.

Doctors recommended a variety of supplements including vitamins B1, B12, C, and CoQ10, as well as a high-fat, low-carb diet. We added more chicken, eggs, cheese, and sour cream to his diet. Everywhere we went, we took crushed vitamins in pots with yogurt. To this day, Adam doesn’t like yogurt.

Adam is so much more than his diagnosis. We tried to keep his childhood as normal as possible. He grew up playing on a baseball team and taking karate lessons. I’ll never forget watching him earn his yellow belt when he was six or seven years old. He remembered his entire routine and I was so proud of him. No one could tell that he was sick in that moment. No one could see his disability.

Adam is 29 now, and he’s an independent young man. He cooks and shops for himself, and loves nature walks and bike rides. His father is a tree farmer and for a time, Adam worked with him on the farm – a connection to the outdoors that he still enjoys. Adam’s looking for a new job now – something meaningful. Like many people with disabilities, motivation and connection are key. He thrives when surrounded by people who listen, acknowledge, and encourage him.

Adam still struggles sometimes. He recently had an MRI that showed lesions on the speech part of his brain, which explains why he stutters when he feels awkward or stressed. He’s been through a lot – more than most – yet he faces each day with quiet determination. He’s still moving forward and finding his way in life.

I wish we understood the body’s complexities more. In a way, we all have a malfunction – some are just more visible than others.

Adam once wrote in a note that we’re all here for a purpose and we need each other. That’s what made me want to share my story. Writing, sharing, leaning on each other – it all helps.

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Discovery Profile: Jessika Royea, PhD

MitoCanada partners with MITO2i to fund mitochondrial research that could introduce new therapies for Alzheimer’s disease

Alzheimer’s disease is one of hundreds of illnesses that Canadians suffer from. The disease stems from mitochondrial dysfunction, however, the underlying molecular mechanism and how it contributes to the development of disease remains poorly understood. 

Alzheimer’s disease in patients and mouse models exhibits an imbalance between mitochondrial fission and fusion. This change in dynamics within the mitochondria has significant consequences on how electrical signals move from one nerve cell to another as well as how the nerve cells themselves function.

Re-establishing an equilibrium within mitochondrial dynamics and structure may be a potential therapeutic target for recovering mitochondrial function and neuronal homeostasis which is the process by which organisms react to specific conditions while trying to maintain their stability and survival.

Dr. Royeais investigating the significance of Sigma-1-receptors medicines and their impact on mitochondrial function. She hopes her future research will identify whether the FDA approved, pain relieving drug, Pentazocine, can be repurposed for the treatment of Alzheimer’s disease as well as other mitochondrial-specific diseases.

Jessika Royea, PhD| Postdoctoral Researcher, University of Ottawa

Principle Investigator Mireille Khacho, PhD | Assistant Professor and Canada Research Chair, Department ofBiochemistry, Microbiology & Immunology, Ottawa Institute for Systems Biology, Faculty of Medicine

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Discovery Profile: Dr. Aneal Khan

MitoCanada funds research to advance Rapid Diagnosis of Mitochondrial Disease: Reducing diagnostic timing from years to days through generation sequencing

Research Project: MITO-FIND 

Mitochondrial Functional and Integrative Next generation Diagnostics

Individuals with mitochondrial disease will see, on average, eight doctors before receiving a diagnosis. Traditional methods of diagnosis include painful and invasive muscle biopsies, the results of which can take months to come back to the clinician. 

At the University of Calgary, Dr. Aneal Khan conducts leading edge mitochondrial research focused on rare and inherited metabolic and genetic disorders. 

MitoCanada granted $75,000 to Dr. Khan for the MITO-FIND project. These funds were also matched This innovative research study was designed  to implement a rapid process to diagnose mitochondrial disease using next generation sequencing. The funding was applied to perform gene sequencing on patients presenting either in hospital or in clinic with a suspected mitochondrial disease.  This included mostly reagent costs but also labour to run the gene sequencing.

Dr. Khan developed sequencing methods to provide next-day diagnostic results from gene sequencing for patients suspected of a mitochondrial disease. His methods eliminate the need for a muscle biopsy in the majority of patients and, in some cases, shorten the time to diagnosis from two years to two days.

These mitochondrial-targeted rapid sequencing methods can be applied to any sample from a simple cheek swab and provide results to anyone in the world.

Mitochondrial diseases have high morbidity and mortality rates. While the diagnostic task was made easier by the MITO-FIND project which sets a new standard for diagnosing mitochondrial disease, it is important to note that until a cure is found, we need to continue efforts to find effective treatments, improve access to diagnosis across Canada and help families living with mitochondrial disease. We need to understand how to improve lives of patients using existing drugs as well as developing new drugs.

Dr. Aneal Khan | Professor of Medical Genetics and Pediatrics, University of Calgary Cumming School of Medicine 

MitoCanada Has been instrumental in proving an opportunity to advance the art of diagnosis of mitochondrial diseases in Canada. –Dr. Aneal Khan

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Discovery Profile: Dr. Mark Tarnopolsky

MitoCanada funds research to support the development of novel therapies to treat mitochondrial diseases

Exerkines™are a recently discovered class of biologically active compounds, such as peptidesandRNA, that are released into the circulatory system when we exercise. These compounds, which were discovered and named by Dr. Mark Tarnopolsky, have beneficial effects on various tissues and organs. 

While exercise has been associated with numerous health benefits for decades, there may be additional advantages we had not considered.  In 2016, MitoCanada supplemented a research grant from the Canadian Institutes of Health Research (CIHR) provided to Dr. Tarnopolsky and his then Ph.Dstudent, Dr. Justin Crane. The purpose of the research was to look at the effects of exercise on the release of exerkine™proteins into the circulation. 

Through their research, they discovered that Interleukin-15(IL-15)went up in response to acute exercise. IL-15 plays a majorrolein the development of inflammatory and protective immune responses. 

Perhaps more important to our community, they also found that very tiny pulses of IL-15 released in response to acute exercise led to the production of mitochondria in skin and muscleof mice.

Applying this new knowledge that exercise can impact mitochondrial function, this discovery could be used in future therapies for treating mitochondrial disease.Specifically, IL-15 could potentially be part of an injectable therapy (like an insulin pen) that delivers some of the mitochondrial benefits of exercise in those who cannot perform exercise. 

Discoveries like this offer hope to our mitochondrial community.

Dr. Mark Tarnopolsky | Professor of Pediatrics and Medicine McMaster University

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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

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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: 

  1. the health care burden and costs associated with mitochondrial disease in a population-based cohort in Ontario
  2. the association between mood disorders and other mental health conditions in patients with mitochondrial disease and,
  3. 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

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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

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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.

“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.”

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.”

“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.”

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.

“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.

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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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