Navigating a Rare Diagnosis in Adulthood

After living with progressive symptoms for the early years of her life, Brittany was officially diagnosed with CMT4J later than most patients. She approaches her condition as an element of her life, which she works daily to manage, but not as the defining one.

When Brittany was a toddler, her parents took her to see various doctors for what they perceived to be concerning symptoms, including missed motor development milestones, gait issues, clumsiness, and trouble with balance. Her parents were dissatisfied with the answers they received. They often heard, “She’s just a late bloomer,” and, “She’ll grow out of it.” Over the years, Brittany’s parents instilled in her an empowering drive. They taught her to advocate for herself as a patient, just as they had been advocating on her behalf while she was growing up.

A couple of years later, Brittany’s parents brought her to their family doctor for a minor ear infection, and they were surprised when he suggested that Brittany might have a neuromuscular disorder. Her neurologist performed two biopsies that led to a strong — but not definite — suspicion that Brittany had Charcot-Marie-Tooth disease. A conclusive answer was still years away.

“Because so much time elapsed between the initial suspicion of CMT and the actual diagnosis of CMT4J, I went 26 years without knowing what disease I actually had. I took things day by day.” With scientific advancements, Brittany’s diagnosis was confirmed by an advanced genetic testing panel at age 26, which was just a few years ago.

I went 26 years without knowing what disease I actually had. I took things day by day. – Brittany

Brittany has lived in the same community in Newfoundland, Canada for almost three decades. Growing up in its school system, Brittany has fond memories of the friends she made. She could walk without assistance, but her symptoms of CMT left her on the sidelines of a lot of activities. For example, Brittany disliked gym class and recess because the uneven playground was difficult for her to navigate, and it was harder for her to keep up with her peers.

Each year, her parents wrote a letter to her teachers to explain CMT and what it would mean for Brittany in the classroom. “My parents and teachers allowed me to set my own limits and to ask for help when I needed it.” Brittany used a laptop to take exams because her hands cramped easily.

Brittany was not the only one who had unanswered questions during her childhood. She recalls feeling like her teachers didn’t always know “where to put her.” Brittany’s trouble with balance and movement and her frequent fatigue didn’t fit the profile of her fully mobile classmates, but she did not have cognitive delays that required extra academic support. In fact, Brittany excelled in her academics.

Brittany’s dueling positive and negative school experiences informed her as she followed her calling to become a teacher herself. She fiercely advocated for children who had experiences like her own. Like the schools she attended growing up, the K-12 schools where she taught had trouble accommodating her mobility as her disease progressed. Today, Brittany works for a government agency but still seeks opportunities to teach in a less traditional sense. Brittany also serves on a provincial board that advises on building accessibility. Brittany is persistent in her independence and advocacy for others living with disabilities.

Although getting around has become increasingly difficult, Brittany says that a huge turning point for her was when she transitioned to using a scooter: “It helped tremendously, and it gave me my independence back.” Brittany uses her scooter and her accessible van so that she can spend less time worrying about a possible injury or feeling tired and more time enjoying her favorite things in life. After working with occupational and physical therapists who have suggested other devices such as crutches or walkers, Brittany is a big believer that patients should embrace what works best for them, especially when it comes to assistive and adaptive devices.

To help keep her endurance up, Brittany swims a lot; it’s low-impact and she’s less likely to get injured. She also manages her daily symptoms with at-home exercises that suit her needs. Her positivity has helped her carve her own path. “When you have the information, you’re able to look to the future and see what might be waiting for you.”

When you have the information, you’re able to look to the future and see what might be waiting for you. – Brittany

Brittany enjoys spending time with her husband and their dog Charlie, as well as her family and friends. She also enjoys singing and traveling — scooter and all! An important part of Brittany’s journey has been to embrace each new day and engage with physicians and the community along the way. She encourages others to do the same.

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