Living With Rett Syndrome: Families Share Stories Of Hope And Resilience

Rett syndrome is a rare and complex neurodevelopmental disorder that affects approximately 6,000 to 9,000 patients in the U.S.¹,² It typically presents in children ages 6 to 18 months, with symptoms such as stereotypic hand movements, like wringing and clapping, and loss of acquired speech and motor skills.³,⁴ Diagnosis can take two to four years after symptoms first appear, with many cases confirmed around age 3.⁵

Most individuals with Rett syndrome live into adulthood, requiring continuous care, often provided by family members.²,⁶,⁷ This responsibility can be emotionally, physically and financially challenging for parents.⁷

“Rett syndrome presents an array of debilitating and often unpredictable features over the course of a patient’s life,” said Alan Percy, M.D., professor of pediatrics, neurology, neurobiology, genetics and psychology at the University of Alabama at Birmingham. “Patients with Rett syndrome and their families may face many challenges as this disorder becomes part of their daily routine. While no cure is available, a combination of supportive therapies and treatment with DAYBUE™ (trofinetide), the first and only FDA-approved drug for Rett syndrome in adults and pediatric patients 2 years of age and older, can lead to meaningful improvements for patients, offering hope to families.”

The following stories, shared by parents reflecting on their children’s experience with DAYBUE and other supportive therapies, highlight these families’ resilience and optimism. The families featured are paid Acadia consultants and were compensated for sharing their stories.

Ellie is a 15-year-old girl from a family of four. Her mother, Heidi; father, Rob; and younger brother, Rhys, all adore her, and those who know her can’t help but feel the same. “Ellie’s kind of shy when you first meet her, and it can take some time to warm up, but when she does connect with you, you’re hooked,” Heidi said. The family spends lots of time together, taking ski trips up the Colorado mountains.

Although Ellie’s parents started her on speech and yoga therapy at age 2 to address her developmental symptoms, she wasn’t diagnosed with Rett syndrome until she was 7 years old. Ellie displayed some of the common symptoms seen in children with Rett. She couldn’t communicate. Repetitive hand movements prevented her from grasping objects. She would have off days, acting out in emotional outbursts. Since her diagnosis, Ellie’s treatment has expanded to physical, speech, occupational and swim therapy. Ellie also started taking the medication DAYBUE.

With therapy and medication, Heidi has seen an impactful difference in Ellie’s symptoms as she watches her daughter’s personality and unique interests shine through.

According to Heidi, some of the changes “come in these small, beautiful moments we wouldn’t always pay attention to.” On one family trip, Ellie exclaimed, “Fun!” after a day of adaptive skiing. “It was a big deal!” Heidi said of that moment. This may seem like a small victory, but to Ellie’s family, it’s a big and hopeful leap forward.

“Ellie is just like any other teen,” said Heidi. “She loves music, especially boy bands, and gives a great teenage eye roll.”

Olivia is a bubbly 5-year-old who loves to smile. From an active family of four, Olivia is partial to the outdoors, particularly the backyard swimming pool, her happy place. Besides the pool, Olivia loves going to school. “Some days when she gets off the bus, she cries because she knows her day is over,” said her father, Jeff. Olivia also loves playing with other children. Her favorite playmate is her older brother. “Nick plays with her and shows her things,” Jeff said. “He likes having her as an audience.”

Olivia was a talkative child. Then, at around 15 to 18 months old, she stopped speaking. “She was saying lots of words — simple words that kids start off with. Then those words suddenly went away,” Jeff said. She had low muscle tone and stopped climbing on furniture. She had difficulty grasping objects. Olivia’s mother, Peggy, studied early childhood development and saw these as red flags. Peggy and Jeff expressed their concerns to a pediatrician, who ordered an MRI. The results were normal. Still, the pediatrician thought it best to enroll Olivia in early-development classes, including physical, speech and occupational therapy. The results were promising. Olivia started walking. She was vocal and used sounds to convey her needs.

In December 2021, about a year and a half later, Olivia was sent to the emergency room for heavy breathing. After assessing Olivia’s developmental history, the doctor ordered a genetic test. At 2½ years old, Olivia was diagnosed with Rett syndrome. Jeff and his wife began educating themselves about the condition, consulting advocacy groups and continuing with Olivia’s speech, occupational and physical therapy. In July 2023, a neurologist prescribed DAYBUE, which she takes in combination with her supportive therapies. The family has seen noticeable differences in Olivia.

“Since we started Olivia on this combined treatment plan, we’ve seen it’s really helped to manage her symptoms,” Jeff said. “Olivia loves being social and engaged in the world around her. It means everything to us that we continue to find ways for her to participate in our family activities and also support her to pursue her interests, despite her Rett syndrome symptoms.”

These victories, no matter how small, bring great hope to Olivia’s family.

Ellie and Olivia did experience some side effects when taking DAYBUE. See below for Important Safety Information related to diarrhea, vomiting, weight loss and other possible side effects of DAYBUE.

Ellie’s and Olivia’s stories bring hope to families caring for children with Rett syndrome. The experiences of Ellie, Olivia and their families may not be the same as yours. Because everyone with Rett syndrome is unique — with a unique set of symptoms — the response to DAYBUE may be different for each individual. To learn more, visit DAYBUE.com/caregiver-stories.

All photos provided by Acadia.

About DAYBUE

What is DAYBUE?

DAYBUE is a prescription medicine used to treat Rett syndrome in adults and children 2 years of age and older. It is not known if DAYBUE is safe and effective in children under 2 years of age.

DAYBUE Important Safety Information

What are the possible side effects of DAYBUE?

• Diarrhea: Diarrhea is a common side effect of DAYBUE that can sometimes be severe. Diarrhea may cause you to lose too much water from your body (dehydration). Before starting treatment with DAYBUE, stop taking laxatives. Tell your healthcare provider if you have diarrhea while taking DAYBUE. Your healthcare provider may ask you to increase the amount you drink or take antidiarrheal medicine as needed.
• Vomiting: Vomiting is a common side effect of DAYBUE. Sometimes vomit can get into your lungs (aspiration), which could cause an infection (aspiration pneumonia). Tell your healthcare provider if you have severe vomiting or if vomiting happens often.
• Weight loss: DAYBUE can cause weight loss. Tell your healthcare provider if you notice you are losing weight at any time during treatment with DAYBUE.
• The most common side effects of DAYBUE were diarrhea and vomiting. Other side effects include fever, seizure, anxiety, decreased appetite, tiredness, and the common cold. These are not all the possible side effects of DAYBUE. Tell your healthcare provider if you have any side effects that bother you or do not go away.

What should I tell my healthcare provider before taking DAYBUE?

Before taking DAYBUE, tell your healthcare provider about all of your medical conditions, including if you:

• have kidney problems.
• are pregnant or plan to become pregnant. It is not known if DAYBUE will harm your unborn baby.
• are breastfeeding or plan to breastfeed. It is not known if DAYBUE passes into your breast milk. Talk to your healthcare provider about the best way to feed your baby while taking DAYBUE.

Tell your healthcare provider about all of the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Taking DAYBUE with certain medicines may affect how the other medicines work and can cause serious side effects.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088. You can also call Acadia Pharmaceuticals Inc. at 1-844-4ACADIA (1-844-422-2342).

DAYBUE is available as an oral solution (200mg/mL).

The risk information provided here is not comprehensive. To learn more, talk with your healthcare provider and read the full Prescribing Information, including Patient Information, also available at DAYBUE.com.

1. Acadia Pharmaceuticals Inc. Data on file. RTT US Prevalence. March 2022.

2. Fu C, Armstrong D, Marsh E, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatrics Open. 2020; 4: 1-14.

3. Kyle SM, Vashi N, Justice MJ. Rett syndrome: a neurological disorder with metabolic components. Open Biol. 2018; 8:170216.

4. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944-950.

5. Tarquinio DC, Hou W, Neul JL, et al. Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatric Neurology. 2015; 52: 585-591.

6. Daniel C, Tarquinio DO, Hou W, et al. The changing face of survival in Rett syndrome and MECP2-related disorders. Pediatr Neurol. 2015; 53(5): 402-411.

7. Palacios-Cena D, Famoso-Perez P, Salom-Moreno J, et al. “Living an obstacle course”: a qualitative study examining the experiences of caregivers of children with Rett syndrome. In. J. Environ. Res. Public Health. 2018; 16 (41): 1-10.

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