Faces of Mito Featured

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.

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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