“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.
