An all-too-common concern for Canada’s “rare” community

This story was included in Canada’s Rare Voices 2023.

_“Most 24-year-olds feel invincible, like the world is theirs to get. Especially in med school, where there is so much to learn and so much to do, there’s this pervasive idea that, if you just go hard enough, you can achieve it all. But for me, with full-time clerkship in hospitals on my horizon, I have to creatively maneuver how my personal and professional choices intersect with my health.

I was 13 years old when I was diagnosed with homozygous familial hypercholesterolemia (HoFH), meaning that my liver is unable to process bad cholesterol. Usually, people get diagnosed much younger because they will have already developed cardiovascular complications. I was lucky in the sense that I had remained relatively healthy, but there was a history of high cholesterol in my family that led me to get tested.

Having one FH gene is quite common and even that can lead to high cholesterol and negative cardiovascular outcomes. My dad had a heart attack in his 40s, and that’s not uncommon with heterozygous familial hypercholesterolemia (HeFH). But having both FH genes (resulting in HoFH) is very rare, only occurring in around one in 300,000 people. The biggest problem with HoFH is that, while HeFH can be treated with medications like statins, those medications may not work as well if you’re homozygous. So I have to do apheresis every two weeks, a procedure like dialysis where they separate and replace the plasma in the blood.

On the one hand, the apheresis works very well and keeps me quite healthy. I've been able to pursue my education all the way to medical school. I’ve been able to work the jobs I want, take the volunteer opportunities I choose, and engage in the hobbies that interest me. Nobody would know from looking at me that I have HoFH. 

"The biggest problem with HoFH is that, while HeFH can be treated with medications like statins, those medications may not work as well if you’re homozygous."

On the other hand, I know I’m different. There’s a sense of isolation that comes from being part of such a small community, and having to worry about your health so much from a young age. And, just because you know you can do anything, that doesn’t mean that others will think the same. You can’t control the way other people perceive you. That’s something I’m especially aware of in medical school. 

This is isolating in its own way. It makes me very careful about who I talk to about my condition, and it’s the reason that I choose to stay anonymous here. I’m fortunate that my father is also a doctor, so I've been able to talk about my health and my career with him. I also take part in a program that connects students to people with disabilities who are further advanced in their medical careers. The person I was matched with has reassured me that there are lots of accommodations in place. I just fear that being open about my accommodations from the get-go will have a negative impact on me.

All of this is made much harder by the fact that my apheresis requires me to travel every two weeks from Hamilton, where I live and attend school, to Ottawa, where I grew up. It’s really frustrating that there are disparities in access to treatments like this across Canada. If I had grown up in Hamilton, I may never have had apheresis at all, and I would be much worse off for it.

I understand my disease. I know what needs to be done, and I know what I’m capable of when the right care is in place. But sometimes it feels like the system isn’t designed to make it easy for me to succeed."

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