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what it feels like: a mother and daughter living with mitochondrial disease

jodi young was only nine when her mom started having seizures. it would take a year before they'd get a diagnosis — one that also affected jodi.

by emma jones

feb 28 2023

6 minute read

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mitochondrial disease — what does it feel like?

jodi young spoke to healthing about growing up watching her mom battle mitochondrial disease. supplied

jodi young wasn’t yet ten when her mom started having seizures. it took a year of testing and trips to the hospital before they received diagnosis that would impact the entire family: mitochondrial disease. since the genetic condition is passed to children from the mother, that meant jodi and her sister had the condition as well.

mitochondrial diseases are a collection of conditions that occur when the mitochondria — the tiny structure in our cells that produce energy for us to function — do not work properly. symptoms include seizures, stroke, movement problems, deafness, and blindness.

there is no cure for mitochondrial disease, so symptoms are treated though a healthy diet and exercise, physiotherapy, getting plenty or rest and diet supplements. in canada, roughly 2.51 cases will occur per 10,000 people — roughly the same as the 1 in 4,000 rate established in the united states. worldwide, there are thought to be 1 case per 5,000 people.

now finishing her master’s at memorial university in newfoundland, jodi spoke to healthing about growing up watching her mom battle a mysterious illness, the postal-code lottery in canadian health care, and how she stays focused on her goals.

what led to your mother’s diagnosis?

it started with my mom back in 2008/2009, [when] she was in her 40s. she was healthy by all means, and then she suddenly just started having seizures. i was very young — i was like eight or nine. so my view on it was of course different than my parents view, but she got very sick. she was pretty much in and out of the hospital for over a year trying to figure out what was wrong. i remember having conversations with my dad about [how] we didn’t know what was wrong with my mom. we didn’t know if she was going to get better. after over a year, she ended up getting a muscle biopsy and getting diagnosed with melas syndrome, which is a mitochondrial disease. so that’s where that started for me.

what was it like seeing your mother go through that when you’re so young?

it was very hard, definitely confusing as a kid, and i remember just being very scared. everyone around me had parents that were healthy, young, nothing wrong. and here i was suddenly with my mom, who was always in the hospital, very ill, couldn’t work. my dad had to stop working to take care of her.

i felt like my world flipped upside down overnight. i was so young; i didn’t have the ability to fully understand what was happening. so yeah, it was quite hard.

what happened after your mom was diagnosed?

in newfoundland, our health care is not quite as far ahead as like the mainland. there were no resources, really, for help. i remember my dad asking, is there anybody in canada that specializes in this? and he was told there wasn’t anyone — which i now know is not true.

melas is maternally inherited — you get all your mitochondria from your mother — so all her children would be affected as well: me and my sister. at the time, it was kind of like what’s the point of us going through a painful diagnosis with a muscle biopsy [to get a diagnosis]? [the biopsy] was really bad with my mom, it was very painful for her. they cut a big gash in your leg and pull out a piece of muscle. not fun.

when i was around 18, we got in contact with dr. mark tarnopolsky, who is a neuromuscular specialist in ontario. he’s amazing and he offered to see us and have a muscle biopsy done that’s much less invasive. it’s just it’s like a needle — the size of a straw.

you’re living in newfoundland full-time, but the specialist is in ontario. how do you feel knowing that part of the country doesn’t have the same resources that another province does?

i’ve lived here my whole life so i don’t know any different. i’m on the west coast of newfoundland — even my geneticist is on the east coast, which is an eight-hour drive. i’m very used to just not having immediate access to things here.

it is frustrating, especially because i feel like sometimes the doctors here are not even aware of the resources on the mainland, so they can’t even connect you.

once you were formally diagnosed, what happened next?

it honestly wasn’t much different than before. we were always cautious to take care of our health and try to learn what we could online and stuff, so that didn’t really change much. dr. tarnopolsky really helped us with some vitamins that he recommends for patients, and educating us on what we can do to take care of our health, like exercise and diet.

i, thankfully, haven’t had any major health problems or anything that i know of related to my mitochondrial disease.

when you say diet, exercise and supplements, what sorts of things are you referring to?

mitochondrial health is super important and exercise is one thing that’s really good for your mitochondria. so pretty much just trying to stay active doing both aerobic exercises and resistance training just to stay healthy overall.

with diet, eating proteins, healthy carbs, veggies, fruit, all the stuff that is good for everyone. for vitamins, i’m fine without them, but [you can take] a mito cocktail*, which is bunch of things that are good for mitochondrial health.

*editor’s note: a mito cocktail differs by patient, but typically includes coenzyme q-10, key for the production of energy in the cell; complex b-vitamins; and various antioxidants.

have you noticed any symptoms of mitochondrial disease?

i’m feeling good, thankfully. i haven’t had any major health problems, but it’s also one of those things that i’m always conscious of more than a lot of people my age. your health is never guaranteed — that’s one thing this has really shown me. i’m always [thinking] something could happen, but i also try not to let it stress me out because that doesn’t benefit me either.

i’m a very anxious person by nature — my whole family is very anxious — so i’ve always grown up with the looming fear of health problems. but as i’ve gotten older, i’ve realized that stressing about it does not help — at all. and adding that stress is worse because stress isn’t good for you either. so i try to take it day by day.

how is your mom now?

she’s quite ill. it’s been a long time from 2009 to now. she’s very similar to someone with dementia.

she has had a lot of seizures over the past decade, [so] she’s not very independent now. my dad is her full-time caretaker, pretty much. he does all the cooking for her. it can be kind of hard to hold a conversation with her, but she also just tries to take it day by day and do what she can.

it’s definitely tough sometimes. also, [similar to] what i said earlier, it’s like all my friends have parents that are perfectly healthy. it’s hard, but it’s also something i’ve gotten used to, and it’s my normal. it doesn’t have to be everybody else’s normal, but i’m just lucky that i have my mom. i try to be thankful for that and thankful for the time i do have, but it can be hard.

you are in university now?

yes, i am taking my master’s in boreal ecosystems and agricultural sciences.

what do you do that brings you joy?

i think school brings me a lot of joy. i really love learning. i study moths, that’s very fun for me. i love learning everything about them. i enjoy time with my friends, my partner, and my family. one thing that i feel like i’ve learned in my life is that time with people is very important, and to not take that for granted.

i also think it’s important that we don’t take our health for granted. [this disease] forced me to be more cautious about my health and to take care of myself, but i think it’s important for everybody to think about their mitochondrial health. it’s really important that we get more awareness out there about it, especially because it was never talked about when my mom was sick and i think that’s part of the reason why it took her so long to get a diagnosis.

readers who want to learn more can check out the mitocanada foundation.

emma jones is a multimedia editor with healthing. you can reach her at emjones@postmedia.com or on instagram and twitter @jonesyjourn.

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what it feels like: a mother and daughter living with mitochondrial disease

jodi young was only nine when her mom started having seizures. it would take a year before they'd get a diagnosis — one that also affected jodi.

rare disease day: lack of strategy is hurting patients

opinion: a rare disease strategy saves lives

what led to your mother’s diagnosis?

what was it like seeing your mother go through that when you’re so young?

what happened after your mom was diagnosed?

you’re living in newfoundland full-time, but the specialist is in ontario. how do you feel knowing that part of the country doesn’t have the same resources that another province does?

once you were formally diagnosed, what happened next?

when you say diet, exercise and supplements, what sorts of things are you referring to?

have you noticed any symptoms of mitochondrial disease?

how is your mom now?

you are in university now?

what do you do that brings you joy?

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what it feels like: a mother and daughter living with mitochondrial disease

jodi young was only nine when her mom started having seizures. it would take a year before they'd get a diagnosis — one that also affected jodi.

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rare disease day: lack of strategy is hurting patients

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what led to your mother’s diagnosis?

what was it like seeing your mother go through that when you’re so young?

what happened after your mom was diagnosed?

advertisement

you’re living in newfoundland full-time, but the specialist is in ontario. how do you feel knowing that part of the country doesn’t have the same resources that another province does?

advertisement

once you were formally diagnosed, what happened next?

when you say diet, exercise and supplements, what sorts of things are you referring to?

advertisement

have you noticed any symptoms of mitochondrial disease?

how is your mom now?

advertisement

you are in university now?

what do you do that brings you joy?

advertisement

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