Caregiver perspectives

For many parents, a diagnosis of Rett syndrome can be bittersweet. For Jen and Jim, they finally had an answer as to what was causing their 3-year-old daughter Kate’s sudden repetitive hand behaviors, speech regressions, and missing motor milestones. But having that answer also brought up the many challenges and unknowns of life with a rare disease. As Kate’s caregivers, they knew the journey might not be easy for them. More than anything, they wanted something that could help make it easier for Kate.

There were no approved treatments for her condition. Kate worked with an occupational therapist to develop and strengthen her hand functions, as well as a speech therapist and physical therapist. She was not taking any other daily medications to manage her symptoms. Jen and Jim felt excited and hopeful when Kate entered the clinical trials with DAYBUE at age 7.

As part of the clinical trials, Jen and Jim saw improvements in Kate. One of the noticeable changes was more purposeful hand use. Kate is able to point at and touch her tablet and even use a spoon. Her mood has improved; she seems more peaceful at home, at school, and in larger groups. She’s also better able to use her eye-gaze device to talk to her family. Jen and Jim saw improvements with how she uses her eyes and her hands to communicate using her TOBII device—making it easier for them to understand her.

Shortly after starting DAYBUE, Kate started having diarrhea. While it doesn't happen every day, when it does occur, it can require multiple diaper changes and can happen multiple times a day. This was a different experience for her family, as Kate struggled with constipation before the trial and sometimes had to take laxatives. When the diarrhea first started, Kate's parents worked with their healthcare team to come up with strategies for managing the diarrhea. In consultation with her healthcare team, Kate’s parents stopped giving her laxatives and instead started an antidiarrheal every day, which has helped make her bowel movements more solid.

Jen and Jim continue to be hopeful for what the next steps in Kate’s journey may bring.

Important Note:
Kate was a DAYBUE clinical trial patient. She continues to take DAYBUE and is enrolled in Acadia Connect. The experiences of Kate and her family may not be the same as yours. Because each individual with Rett syndrome is unique—with a unique set of symptoms—the response to DAYBUE may be different for everyone. See the results from the clinical trial. Always speak with a healthcare provider about your own experience. Kate’s family was compensated for participating in a photo shoot and sharing their story.