Denmark

Meet Mathilde, who, at the age of 21, has been battling Lafora disease for half of her life.

A Happy Childhood

Mathilde was a perfectly healthy and happy little girl, well-liked by everyone she met, and skilled academically. Outside of school, Mathilde was a Girl Scout. She loved animals, creative hobbies like drawing and painting, reading horror books, and watching Disney movies with her sisters.

Mathilde would help her neighbor by mowing their grass; she babysat children some afternoons. Her dream job, though, was to work in healthcare. She imagined a future living in a small yellow house with her own family. Mathide even daydreamed about her future children’s names: Agnes and Isaac.

No one ever imagines they will be diagnosed with a rare disease. Even as Mathilde’s first symptoms began, everyone thought she had epilepsy…

Mathilde’s First Symptoms

When Mathilde was around eight, she began having seizure activity. She dropped in her school yard and was unresponsive for more than an hour, but didn’t experience any jerking or cramping. The doctors recommended she have an EEG, the results of “which unfortunately disappeared in the system.” Life carried on for her.

Almost a year later, while participating in the Scouts program she loved, Mathilde had another episode where she was also uncontactable for over an hour. This time, she experienced muscle jerks in her right arm. She had another EEG, which showed epileptic activity around the same time as the results of the first one appeared.

Now in the third grade, Mathilde began to struggle with keeping up with school; she “suddenly had a hard time reading and spelling, which she had always been really good at.” Between her cognitive challenges, trouble controlling her body, and side effects of her medication, it became clear there was something more going on.

She was admitted to the Epilepsy Hospital Filadelfia many times. Starting with GTK around age 10, Mathilde trialed many different medications and received different epilepsy diagnoses.

Lafora

In 2018, she began experiencing tics, muscle jerks, and dropping things. No medication helped her manage her body; her symptoms progressed. Once coordinated and active in Scouts, Mathilde was falling and experiencing undefined seizures frequently. Her whole body would twist, and she would hear her family, but she would be unable to answer them.

Mathilde recently celebrated her 21st birthday.

The cycle of hospital visits and medications continued until Mathilde had a biopsy in 2020. As if March 2020 was not difficult enough, she was finally diagnosed with progressive myoclonus epilepsy. Her family learned their beloved Mathilde was fighting Lafora Body Disease and has been engaged with the community since.

While Mathilde’s age made her ineligible for the ION283 Safety Study, her loved ones remain hopeful that treatments will help her soon. She recently celebrated her 21st birthday on June 10.

Thank you to Mathilde’s mother, Jette, for sharing her daughter’s story with us.