The Greatest Gift: Jillian Cabernel, Vancouver, BC, Living With CMT

December 2023 was a Christmas to remember for Jillian Cabernel. For the first time in her life, she truly felt the magic of the holidays.

Jillian has spent her entire life living with Charcot-Marie-Tooth disease. Diagnosed at the age of 2, she has endured mobility limitations, relentless bullying, judgment and exclusion. For years, the holiday season was something she never looked forward to — until last year.

When Jillian was a toddler, her parents knew something was quite different. She missed developmental milestones, struggled with balance and coordination and took longer than other children her age to learn to walk. Her parents took her to see a neurologist, where they performed a nerve conduction study. Along with the study came the diagnosis — CMT.

Jillian’s CMT was the result of a spontaneous genetic mutation, meaning no one in her family had CMT. She received the official type four years ago, an undisclosed subtype of CMT Type 1.

When Jillian was a child, she struggled in gym class. In fact, she struggled with many things her peers could easily do. While Jillian knew why she struggled, she didn’t understand. To make matters worse, kids at school took notice.

“I knew the struggles were because I had CMT, but I didn’t know anyone around me with it, and I didn’t understand it, so I felt frustrated, like, ‘What is wrong with me? Why can’t I do these things?’” Jillian said. “I was bullied quite a bit just because I was different than the other kids and I could not keep up. It gave me a lot of shame. Being a kid with CMT was very hard for me.”

CMT currently impacts every moment of Jillian’s life. It affects her mobility, stamina, coordination and balance.

Tasks that would seem simple to others take a lot of extra planning. If she wants to go to dinner, the grocery store or even the movies, Jillian has to spend a few days beforehand resting to ensure she has enough energy to be able to do those things. If she decides to partake in something that is outside of her normal day-to-day routine, she also has to spend a few days after resting, since it will take a lot out of her.

Jillian has always adapted, but there are times she forgets just how much CMT takes out of her and has impacted her daily life.

When asked what the hardest part of having CMT is, Jillian will tell you it is not the limitations or the mobility issues she faces each day; rather, the bullying and judgment she has dealt with her entire life.

“Physically, CMT is very difficult, but I feel like I can deal with that. What’s hard to deal with when you’re younger is the bullying, the exclusion and people not understanding you. Then, as you become an adult, unfortunately, that kind of thing never goes away; it just comes in a different form. It’s a lot of judgments and misconceptions about who I am and what I can do, and it’s hard to deal with.”

Jillian channels this by advocating about disability awareness on her social media accounts. She hopes to be an inspiration to CMT patients, so they don’t have to face CMT, or any disability, alone.

“I just got tired of feeling like CMT, and disability in general, was something to be ashamed of. Looking back on my younger self, I wish I had had someone like me to look up to and see that life can be happy and that you can do the things you want to do. I just wanted to show a bit of positivity for people who might be struggling like I was.”

CMT is a rare disease, in fact, it affects only three million people worldwide, making it difficult to diagnose, understand and even project into the future. For Jillian, and all CMT patients, they know that their CMT will eventually progress; they just don’t know when.

“I think what’s really important for people to know is CMT is a constant presence in my life. It affects everything. It affects how I move, how I plan and how I live each day, and there are no breaks from CMT. I know that over time my CMT is going to get worse, I just don’t know when or how.”

For Jillian, when times do get hard, she looks back on how far she’s come and knows that if she made it through that, she could make it through this. She also channels support and encouragement from the one that she cherishes most — her husband.

“My husband makes me feel like I am not in this alone, which unfortunately, with CMT, sometimes it’s really lonely because it is not a very well-known disease, so just having someone who understands you and is by your side is really helpful.”

For Jillian, having her husband by her side allowed her to see things differently and experience Christmas in a whole new light.

Jillian got married in 2023 and spent this past holiday season as a newlywed; one she described as “magical.”

Jillian and her husband went to the Vancouver Christmas Market. With the smell of mulled wine filling the crisp cold air, Jillian and her husband honored their first holiday as a married couple by writing their initials on a lock and locking it onto the fence at Lovers Lane to celebrate this new chapter in their lives — one Jillian hopes will include a cure.

“Finding a cure would mean being able to live without the pain or limitations I’ve had to live with my entire life, but more than that, it’s important because I don’t want anyone else to go through these kinds of struggles, especially kids, because I was that kid with CMT and it was really difficult for me.”

Would you please consider commemorating Jillian Cabernel’s favorite holiday year of 2023 by donating $20.23, $202.30 or even $2,023 so she can receive her greatest gift of all—a cure for CMT.

Please donate at cmtrf.org/the-greatest-gift