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what it feels like: fabry disease and finding the silver lining in community and advocacy

living with fabry disease calls for finding "different ways to accept that it's going to be a lifelong journey."

by angelica bottaro

apr 3 2024

9 minute read

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to this day, julia alton continues those efforts for others with fabry disease so that those feelings of being alone are a little less heavy, and it doesn't feel like a sacrifice at all. supplied

julia alton was 15 when she was diagnosed with fabry disease, a rare hereditary neurological disorder that occurs when fatty materials in the body cannot be broken down adequately. for julia, the symptoms started slow and inconsequential. if it weren’t for her parents already knowing about fabry, she likely wouldn’t have thought about the disease at all.

“i was sick, and i ended up coming down with this pain in my hands and feet that’s known as acroparesthesia. it’s like a pins and needles kind of sensation,” she said. “my dad obviously had that symptom as well because he was a classic male living with fabry, and his disease progression was quite severe, and so my parents knew in that moment what was happening.”

even after being diagnosed and being so close with her father, who had the disease as well, she didn’t quite understand what it meant for her life. it wasn’t until julia was 18 and lost her father to fabry disease that she felt the direct impact of it all.

sometime after her father had passed, julia was working as a teacher, but with her familial and self-experience with fabry disease, she felt as though her calling was elsewhere. she is now the executive director of the canadian fabry association (cfa), working toward helping others like her navigate their lives with the rare disease.

“i got involved because my dad passed away with fabry disease when i was 18, and i became a teacher,” julia said. “i was teaching in the classroom and just kind of realized there’s this greater calling, and there’s just more that needs to be done in this space and for patients.”

diagnosed with a fabry disease at 15

julia, even though she was diagnosed in early adolescence, recounts not “feeling so scared in that moment” because she “didn’t understand at that point” what living with fabry was going to mean for her and her future.

“throughout those years, i just had to constantly be reevaluating what fabry disease is, and learning about it, and what that means, and how that’s going to impact my life,” she said, later continuing. “i’m more scared now than i was then because now i know what this means, and i know what this means for me.”

julia was able to live life relatively normally as a teenager. seeing friends, going to parties, and experiencing the teenage journey were all within her reach because she “wasn’t experiencing too many symptoms” at that time. however, her diagnosis was always in the back of her mind.

“i was nervous, and i remember thinking this a few times, ‘oh man, i wish there was someone i could talk to to help me understand. maybe i’m not just like all my friends, you know?'” she said.

while she was different, she still got to experience the adolescence that many canadian teenagers do, such as exploring alcohol and parties. but the aftereffects of that weren’t the same as others her age. because of her fabry disease, she was left to wonder whether the consequences of her extracurricular activities were typical or something that only she was experiencing.

“when i’m drinking too much, and i feel really sick the next day, and i’m having some different things going on, like some heart palpitations, or like pain in my hands and feet,” she said. “‘is this normal?’ because i don’t really know if it is or not. how do you separate? you’re asking your friends, ‘do you have heart palpitations or, like, are you fine over there?'”

while her parents knew a lot about the disease, living life as a typical teenager tends to go hand-in-hand with wanting or needing to hear the low down from someone—anyone—else, especially when it came to her more rebellious activities.

“if i was to go back, i would wish that there was someone that i had to talk to about these things that maybe you’re not going to just bring up with your mom or your dad.”

finding a good balance as a mother of two

when symptoms in fabry disease progress, people can end up dealing with excessive bouts of pain that worsen in extreme temperatures and after exercise, and complications because of how the disease can affect vital organs. along with the physical characteristics of the disease, since the disorder is chronic and lifelong, coping with treatment is also a long-term commitment that often takes up a good portion of time.

because of that, julia, a mom of two, has had to find balance in her life to ensure she can show up as a mother, a career woman, and a spouse.

“i think it (being a mom with fabry) comes with a lot of different challenges, and maybe others don’t feel because you’re already exhausted, sleep deprived, and stressed and worried when you’re a mom. that comes with the territory,” julia said. “but i think those things can be exacerbated when you have a rare disease on top of it.”

she later continues, “i think it gets harder when you have more pain and symptoms, right? with anything, you can know something, but when you’re not experiencing it in your body, it’s not that tough. but when you start experiencing it, that’s when it gets tough, and that’s when you have to actually change the way you’re living and your expectations about how you saw your life going.”

juggling work and home life is already a challenge in the modern world. for those with a rare disease like julia’s, the struggle to do so is amplified in a significant way.

“i’m on enzyme replacement therapy, which means i have an infusion every other week. so, a nurse comes to my house. i have to carve out time for that,” she said, later continuing, “the amount of time that the appointments take, you have a lot of appointments in fabry from head to toe.”

“so, brain mri. holter monitor for two weeks. lots of blood work, 24-hour urine. it’s scheduling. it’s making time for appointments. i live in thunder bay now, and i’ve travelled two hours to my appointment on a plane to go see my doctor. so, it’s like all these things take a lot of time in your life, and that’s hard.”

there’s also the worry that she may pass on the disease to her own children.

“i haven’t had my kids tested for fabry yet,” she said. “so, of course, that’s something that weighs on your mind too.”

she later continues to speak on her fears as a mother and the risk of her children also developing the disease. “it’s devastating and really hard because you know that their life is going to be different,” she said. “but it’s also—we’re in a better place than we were 20 years ago where we have treatments available and there is hope. it’s going to be different for them than it was for my dad and for me.”

channelling her father’s optimism to approach fabry disease with positivity

today, julia continues her work with the cfa to help others connect and learn about fabry disease, what it’s like, and how to cope with a life-long chronic condition. but even when she was younger, she recounts seeing the world through a rose-coloured lens of optimism, a coping mechanism she also inherited from her dad.

“i have a, thankfully, positive outlook on life and kind of carry that. and my dad did, too,” julia said.

she got involved with the cfa early on because of her dad and shared that his positivity challenged her to approach her own diagnosis and her place in the world with the same level of optimism.

“i remember him being a pretty positive person to lead by example, to me. and i was volunteering as a board member for the cfa, and we would travel around canada, and we’d have all these great meetings,” she said.

“but i would see a lot of people that just felt hopeless and sad and depressed and lonely—and all of those are okay and all of those i have felt also—and i wanted to also be like, ‘what can we do, what can we do about these things, what else can we do and how can we feel more empowered in our life? where is our power, and how can we find that?'”

to this day, julia continues those efforts for others with fabry disease so that those feelings of being alone are a little less heavy, and it doesn’t feel like a sacrifice at all.

“this is just more suitable for me. i see that now, and i’m glad that i did have a lot of experience, but this is where i belonged for sure. you know, i can still use my education piece with this job, which is really cool, as well as you can work with kids, and i can work with youth, and i can work with kind of like putting it all together,” she said.

establishing a community and finding the silver lining

when julia first joined the cfa and was beginning to get to know the fabry community, she realized that, while living with a permanent, progressive disease isn’t easy, there are some plus sides.

“i’ve for sure learned how to become more resilient. i’ve learned that this disease doesn’t define me,” she said, later continuing, “it’s part of who i am. i would not be who i am today if i didn’t have fabry. i have more empathy and i have way more understanding of what people maybe go through when they’re going through a hard time. that taught me to be a better person and be able to be a better friend.”

she also counts the people she’s met along the way as genuine friends that, without fabry disease, she wouldn’t have had the pleasure of meeting.

“i’ve also met a lot of wonderful, wonderful people because of fabry and became really good friends with them. that’s a huge plus, you know. it’s a huge part of my community.”

when asked about her future, julia finds herself grappling with a mix of both fear and hope.

“i think it’s unknown, and the unknown comes with some fear. i also am happy that there’s so many brilliant minds working in the fabry space now with more treatments and more options,” she said. “that’s hopeful, as well.”

through her work and life experience with fabry, julia hopes that more people will become well-versed in the disease, what it means, and how they can help those within the community. since it is largely underdiagnosed, she urges people to “listen to” their bodies and educate themselves on these rare diseases in the hopes that more people who have it can get a diagnosis and come forward for help within the fabry community.

“there’s a reason why we feel what we do. so, listening to that is really important, and advocating and asking questions no matter what your situation is.”

the one thing that helps julia manage is acceptance: accepting her disease, accepting her life’s work of helping those with fabry, and accepting that while she has this rare disease for life, nothing stays the same forever, so it’s better to accept and adapt.

“you have to really find different ways to accept that it’s going to be a lifelong journey. i’m not sure i’ve really done that yet because i think it changes, you know. change is just like anything; just like we grow and change, so does that. and so you have to grow with that to be coming to always be pivoting to say like, ‘okay, now i have to accept this now’. so, that’s one thing.”

if you or someone you love is living with fabry disease, or suspect you may have fabry disease, the canadian fabry association provides resources and community events to help bring awareness, connection, and hope for the future.

angelica bottaro

angelica bottaro is the lead editor at healthing.ca, and has been content writing for over a decade, specializing in all things health. her goal as a health journalist is to bring awareness and information to people that they can use as an additional tool toward their own optimal health.

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what it feels like: fabry disease and finding the silver lining in community and advocacy

living with fabry disease calls for finding "different ways to accept that it's going to be a lifelong journey."

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