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how i care for mef2c: rare genetic disorder means 'elsie can never be left alone'

julia irwin's daughter lives with an ultra rare genetic disorder that affects the brain, immune system and muscle tone. her advice to other caregivers? forgive yourself.

by maja begovic

may 11 2023

11 minute read

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caring for a child with an ultra-rare genetic disorder

julia irwin and her daughter elsie, who lives with mef2c. supplied

mef2c is an ultra rare genetic disorder that affects the brain, immune system and muscle tone. while the initial symptoms, which usually appear in children who are one or two years old, may vary, seizures, along with missed milestones and developmental delays are common. currently, there is no cure for the rare disease, but anti-seizure medication, along with speech therapy and other similar interventions are used to manage symptoms.

julia irwin’s youngest daughter lives with mef2c. in an interview with healthing, she shared how her family navigates life with a rare disease, the biggest challenges they face, and how she and her husband, both of whom have busy careers, are able to balance the needs of their older daughter, ayla. irwin also opened up about why she gets up at 4:45 a.m., who she leans on for support and the strategies she uses when those comparison thoughts begin to creep in.

this interview has been edited for length and clarity.

tell us more about your daughter’s disability.

elsie has mef2c, a rare genetic disability, and she has a secondary diagnosis of epilepsy, which is directly tied to mef2c. the condition affects roughly 300 children around the world, so there is very little research on it and a lot of unknowns in terms of her future. it shows up as what is referred to as ‘global development delay.’ elsie is five years old, she looks her age, but cognitively and developmentally, she’s closer to a two-year-old.

what led to the diagnosis of mef2c?

she began having grand mal seizures when she was about 16 months old. prior to that, she was missing milestones, and the pediatrician sent us for multiple tests and blood work, but nothing ever came out of that. parents and friends would constantly say to me that kids have their unique growth patterns and that they reach milestones at different stages, but i knew that something was wrong, which is why we continued to pursue it. elsie ended up having multiple seizures and it’s what caused us to get expedited to see a neurologist and undergo more tests. the genetic testing was what told us that elsie has mef2c.

how did it feel to finally have a diagnosis?

part of me was relieved to have answers because, as a parent, when things are wrong with your children, you immediately go into action mode and when there are unknowns, it becomes very difficult to navigate. i was partly relieved that we had the diagnosis and could get elsie the support she needs, but from another aspect, no parent ever anticipates that they will have a child with special needs. both my husband and i didn’t have any point of reference, we don’t have anyone in our extended family who has a disability and for us, it was a reality that we never thought we’d be facing.

how did you handle the diagnosis?

initially, i went into shock and was paralyzed by thoughts about the future. there was an overwhelming number of what-ifs, but after i went through a grieving process of what i thought my life with children would be like, i proceeded to be realistic and focused on doing the best possible job of providing elsie everything she needs to reach her full potential — whatever that might be.

how do you support elsie?

my husband, trevor, and i both work full-time and it’s been very challenging to balance work with caring for elsie, but we’re managing it. in terms of the day-to-day support, i’m waking up with elsie, and because she’s not independent, i’m also helping her pick out her clothes for the day and getting her dressed, taking her to the bathroom in the morning as she’s still not completely toilet-trained, making her breakfast, giving her medication for epilepsy, getting her ready for school and packing her books for the day.

elsie irwin is now five-years-old. supplied

during the day, she’s at a special needs preschool and because we live in alberta, we receive funding so that elsie can have an aide to support her as well. she has quite a lot of therapy appointments (speech, occupational, physiotherapy and a psychologist). it’s incredibly difficult to take her to all those sessions. the aide sometimes takes elsie to her appointments and the goal is to follow through with strategies at home and in the community — the aide helps us implement those recommendations.

what are the biggest challenges with mef2c?

one of the biggest challenges we’ve navigated is safety as it relates to both elsie’s disability and her seizures. seizures that appear at night come with a significant risk, and we’ve had to figure out a system where i didn’t have to sleep on the floor of her room every night because i was worried that her seizure monitor would malfunction. it took a lot of time and effort to get a system in place where we felt that she was safe and if she had a seizure, we would be alerted.

the other aspect of safety is that cognitively, elsie doesn’t understand safety. for example, we once found her in the bathroom with a razor in her mouth. if i was cooking, she would reach up to touch the hot stove. as she has gotten older, she has figured out how to open the doors and locks, but doesn’t understand that she can’t go on the road or that strangers can be dangerous. and if she walks down the street, she doesn’t know how to get back home.

that sounds incredibly difficult.

the way we have tried to navigate is by adapting things as much as possible in her environment. we have special locks on our doors and magnetic locks on most of our cupboards. we’ve also learned that when we use a knife, we have to put it away after we’re finished so that elsie doesn’t injure herself. it takes a significant amount of conscious effort to make our house safe for her.

when my seven-year-old daughter, ayla, sits down to paint, she knows not to leave the paint out when she’s finished because elsie will dip her fingers in it and eat it. elsie can never be left alone, she needs to be watched at all times, so we have what we call a ‘tag system,’ which means someone’s eyes are always on her, whether it’s at our house or in public. as elsie gets older and bigger, attending public events or even going to the grocery store becomes more difficult. she doesn’t understand that she can’t go to the grocery store, take things off the shelf and dump them. it’s also very challenging to have an evening out with elsie or go to someone’s house for dinner because their environment is not adapted to her needs.

what about social interactions?

elsie looks like a normal child, but sometimes kids or adults will ask her name or tell her not do something, but because she has very limited speech, she doesn’t engage in these types of interactions. and when they don’t get a response, they don’t know what to do, so they ignore her. it’s human nature to shy away from an awkward situation — people don’t understand an invisible disability.

who do you turn to for support?

there is a facebook support for families with mef2c. there are 300 members and there is only one other child in canada, but there are members worldwide and i’ve connected with them. that has been very helpful. i also have a strong personal support network, including my direct family (my mom, dad and sister) and friends who love and adore elsie and would do anything to help her and me.

“i honestly believe that ayla (right) was made to be elsie’s older sibling. she is so patient and kind and there’s absolutely no sibling rivalry — she would do anything for her little sister,” says their mom, julia. supplied

trevor travels quite a lot for work so i am alone a lot with my kids, and i do rely on those closest to me to help out during those times. elsie gets sick more often than other kids and when she’s not feeling well, it tends to trigger seizures, and it then becomes challenging to take my other daughter to activities or make dinner. having support and being able to turn to someone when things don’t go as you expected is paramount.

how do you balance the needs of your other daughter?

ayla is my older daughter and i honestly believe that she was made to be elsie’s older sibling. she is so patient and kind and there’s absolutely no sibling rivalry — she would do anything for her little sister. she is only seven, but she will take elsie to the bathroom or help her get dressed or lay with her in bed. that doesn’t excuse the fact that elsie takes up a significant amount of attention and the way we balance that is that when both my husband and i are available, we’ll ‘divide and conquer’ — one of us will take ayla to do an activity she enjoys, and the other will spend time with elsie. we don’t get to do many activities as a family. we’ve enrolled our older daughter in quite a few activities because research shows that children of siblings with special need stimulation and attention.

what do you do for self-care?

exercise is very important to me. i just find that when i’m being active, i have a clearer mind. i can be more patient, and physically, having a child with a disability is hard — i have to carry elsie a lot, so i have to build physical strength. i wake up at 4:45 a.m. every day to fit in exercise. i also don’t have any downtime in the evenings, so i make sure to schedule time for myself and regular outings with friends, where i can relax and forget about the stressors of life.

is it hard to take those breaks?

i used to feel a lot of guilt so i did it very rarely, but at one point, i hit a wall — my back was hurting all the time from carrying elsie and i would get sick often because i wasn’t prioritizing my own health or my eating. i was struggling at work because we didn’t have the right supports in place, so i missed a lot of work to be there for elsie. but then i realized that i can’t be the caregiver elsie needs me to be if i don’t work on myself. it’s taken a lot of emotional and mental work to get to a place where i don’t beat myself up for taking breaks and time for myself. i’m a much better mother and caregiver if i take that time away.

what has been helpful (and perhaps even unhelpful) in your caregiving experience?

i tend to think about the future and worry a lot, whereas my husband is able to take it one day at a time. having him as my partner in this has been very helpful on days when i get ahead of myself.

from left to right: julia, elsie, ayla and trevor irwin. supplied

parenting is hard and what’s been unhelpful are judgments being passed without knowing. if we’re at a mall, my daughter may walk over to someone who might be looking at their phone and touch it. or she’ll touch someone she doesn’t know. what’s been unhelpful is when people look at you or approach you to say that her behaviour is a product of bad parenting.

has the education system supported elsie in the ways she needs?

as a society, we have a long way to go to be fully inclusive, so navigating the education system is very difficult when you have a child with special needs, especially when they don’t have severe behavioural issues.

within the public education system, there’s not a lot of support in place for kids like elsie, and i know that she will probably get lumped into a classroom with peers, but because there are no supports to nurture or develop her, we have to advocate very strongly for her, or she will get lost in the system. my child gets government funding — the funding goes to the system, but they choose how it gets distributed and it doesn’t follow the child, so elsie may not get aide time or receive the support she needs. her funding could go elsewhere.

is there anything that you’re still learning to master as a caregiver?

it’s really easy to go down the rabbit hole of ‘why me?’ and ‘what did i do to deserve this?’ and sometimes, it’s difficult to see a family of four on a bike ride not thinking much of it, while i think to myself ‘i hope they know how lucky they are.’ when i get in those phases, i remind myself to be grateful for what i do have. there are many families out there who don’t have children and who would adore a child like elsie. and there are a lot of families that don’t have the supports that we have. i focus on the fact that i have a home and a job that provides elsie with all that she needs. when those comparison thoughts creep in, i focus on what’s in front of me.

any advice for other caregivers and parents with kids with special needs?

you need to be a voice for your child. once, when elsie went to a dentist’s appointment, there were three people who pinned her down and one of them pried her mouth open — i will never allow that to happen again. it’s important to advocate for your child in every circumstance because as a parent, you know what they need.

when the seizures kept happening, i had to pick up the phone and keep calling to beg for an appointment so that elsie could be seen by a neurologist. being the annoying person or a thorn in someone’s side is what you need to do so that your child can get the care they need.

the other thing i would say is that when you’re struggling and you’re stuck to find answers, don’t go at it alone. there are fantastic resources and people out there who can help open your mind to other things — amazing therapists who specialize in supporting kids with special needs that parents can turn to for advice. caregivers need to remember to go easy on themselves, forgive themselves and not try to do it all. you can only do so much and that is enough.

for more information about mef2c and other rare diseases, contact the canadian organization for rare disorders .

maja begovic is a toronto-based writer.

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how i care for mef2c: rare genetic disorder means 'elsie can never be left alone'

julia irwin's daughter lives with an ultra rare genetic disorder that affects the brain, immune system and muscle tone. her advice to other caregivers? forgive yourself.