When Small Moments Mean More: A Family's Journey with Rett Syndrome

(BPT) - Content Sponsored by Acadia Pharmaceuticals

When Olivia was one and a half, she was saying simple words that many toddlers typically learn first, but then her parents noticed something alarming - suddenly, those words had disappeared.

At the same time, Olivia's physical development started to change. She stopped climbing on furniture and playground equipment. Her muscle tone seemed weaker. She began struggling to grasp toys and other objects and had difficulty with tasks that had once come naturally.

For Jeff and his wife, Peggy, these changes were impossible to ignore and shaped nearly every aspect of Olivia's life and their family's journey. After a series of evaluations and genetic testing, they received an answer they never expected: Olivia had Rett syndrome.[1] She was two and a half years old.

This is Jeff, Peggy and Olivia's story:

Olivia lives with Rett syndrome, a rare, genetic neurodevelopmental disorder that affects approximately 1 in 10,000 girls in the U.S. (although less common, the disorder can also occur in boys).[2],[3] Children with Rett syndrome can lose previously acquired skills and experience challenges with communication, motor function and hand use.[4] Tasks that many children perform without thinking can become difficult, from communicating wants and needs to carrying objects and participating in everyday activities.

Like many parents receiving a rare disease diagnosis, Jeff and Peggy were overwhelmed. They immersed themselves in learning everything they could about the condition, connecting with specialists, joining the Rett syndrome community and seeking advice from other families who understood what they were experiencing.

"We needed all the help we could get," Jeff recalls.

Treating Rett syndrome

Over the years, Olivia's care has included occupational, speech and physical therapies, along with equine and aquatic therapy. The family also works closely with specialists and regularly visits a Rett Center of Excellence.[5]

Regardless of the challenges, Jeff and Peggy remained focused on helping Olivia participate as fully as possible in family life.

In 2023, Olivia's neurologist prescribed DAYBUE^® (trofinetide), the first and only drug approved by the U.S. Food and Drug Administration (FDA) for the treatment of Rett syndrome in adults and pediatric patients two years of age and older. Following discussions with her care team and weighing the potential side effects (see below for Important Safety Information), Jeff and Peggy decided it was worth trying.

"There are a lot of things that contribute to Olivia's progress and development," Jeff says. "DAYBUE has been one of the key parts of that journey."

Since starting treatment, and complemented by a broader care plan and therapies, Jeff says he has observed meaningful improvements in Olivia. Some of the most impactful changes involve how Olivia uses her eye-gaze to engage with the people around her.

"She seems to know people, which makes her feel more comfortable connecting and interacting with them," Jeff says.

Olivia uses an eye-gaze device at school and during speech therapy to help express her wants and needs. Some days she embraces it. Other days, Jeff notes, she would rather knock it over and move on to something else. At home, the family uses picture cards and simple choices to help Olivia express herself.

Jeff says Olivia's vocalizations have also become more distinct. The family can often tell based on the sounds Olivia makes whether she is hungry, tired or eager to jump into the pool - something that was difficult for her in the past.

He has also noticed changes in how Olivia participates in some of her favorite activities. During aquatic therapy, she eagerly reaches for and holds on to her favorite mermaid doll. In equine therapy, she has been able to hold the handle on the saddle at times with her teacher's assistance, and the duration of her grip has increased. "She has even learned to follow her teacher's instructions for keeping both hands on the handle and grabs the reins at various points during the lesson," Jeff says.

For many families, these may seem like small moments. For Jeff, they are very meaningful.

Despite the improvements he has noticed in Olivia, Jeff says she still has days that are more difficult than others, and they sometimes face behavioral challenges. However, the changes in Olivia's mood have made a big difference for the family. Before DAYBUE, mornings could be especially challenging, often beginning with unexplained irritability and fussiness. Now, Jeff says Olivia is more pleasant and playful, making mornings calmer and easier to navigate.

"We noticed Olivia seems happier, something that we haven't seen before, and that has been amazing for us. We're able to spend more time together as a family and create new memories," said Jeff.

Experience with DAYBUE^® STIX

More recently, Olivia began using DAYBUE^® STIX, which was approved by the FDA in December 2025. It is bioequivalent to the original DAYBUE oral solution, so it is expected to deliver the same efficacy and safety profile, while offering children and adults living with Rett syndrome flexibility and choice regarding the dose volume and taste of their DAYBUE treatment.[6]

"As clinicians, we work closely with patients and their families to identify treatment approaches that align with their individual circumstances and preferences. Having formulation options available allows those decisions to be tailored to each patient," says Steve Skinner, MD, President and CEO of the Greenwood Genetic Center, Greenwood, SC, and Director of the Rett Center of Excellence in South Carolina.*

"Olivia doesn't like taking medicine," Jeff says. "Before, it could take us 10 minutes because she would store it in her mouth or sometimes spit it out."

Because DAYBUE STIX can be dissolved in cold to room temperature water or water-based beverages such as juice, tea, lemonade, limeade or liquid hydration, the family experimented with different options before finding one Olivia enjoys.[6]

"Peach mango juice seems to be the winner right now," Jeff says with a laugh.

The family also appreciates the portability of the packets. Since they do not require refrigeration, Jeff says they are easier to bring along to activities and may make future travel simpler.[6]

Still, the moments Jeff remembers most aren't the ones found in a medical chart. One morning, he came downstairs expecting the usual start to the day. Instead, Olivia looked at him and quietly said a word he had waited years to hear. "Dada." For many parents, the moment might seem small. For Jeff, it was unforgettable.

And for families living with Rett syndrome, it is often those moments that mean everything.

Olivia's experience with DAYBUE and DAYBUE STIX is unique to her and may not be the same as yours.

Always speak with a healthcare provider to learn what to expect when starting DAYBUE or DAYBUE STIX, including side effects. See below for Important Safety Information related to DAYBUE.

DAYBUE^® and DAYBUE^® STIX (trofinetide) Indication and Important Safety Information

What is DAYBUE or DAYBUE STIX?

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

What are the possible side effects of DAYBUE or DAYBUE STIX?

• Diarrhea: Diarrhea is a common side effect of DAYBUE or DAYBUE STIX that can sometimes be severe. Diarrhea may cause you to lose too much water from your body (dehydration). Before starting treatment with DAYBUE or DAYBUE STIX, stop taking laxatives. Tell your healthcare provider if you have diarrhea while taking DAYBUE or DAYBUE STIX. 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 or DAYBUE STIX. 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 or DAYBUE STIX can cause weight loss. Tell your healthcare provider if you notice you are losing weight at any time during treatment with DAYBUE or DAYBUE STIX.
• The most common side effects of DAYBUE or DAYBUE STIX include 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 or DAYBUE STIX. 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 or DAYBUE STIX?

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

Tell your healthcare provider about all of the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Taking DAYBUE or DAYBUE STIX 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/medwatchor 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 (200 mg/mL).

DAYBUE STIX for oral solution powder is available in 5,000 mg, 6,000 mg, and 8,000 mg packets.

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.

Note:

Jeff is a paid Acadia consultant who has been compensated for sharing his story of Olivia's real patient journey with Rett syndrome. The family's experience 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.

*Dr. Steve Skinner isnot Olivia's treating provider.

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

[2] May D, Kponee-Shovein K, Mahendran M, et al. Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study. BMC Neurol. 2023;23(1):141

[3] Fu C, Armstrong D, Marsh E, et al. Consensus guidelines on managing Rett Syndrome across the lifespan. BMJ Paediatr Open.

[4] Kyle SM, Vashi N, Justice MJ. Rett Syndrome: a neurological disorder with metabolic components. Open Biol. 2018; 8:170216.

[5] International Rett Syndrome Foundation. IRSF Center of Excellence Network.

[6] Acadia Pharmaceuticals Inc., (2025, December 12). Acadia Pharmaceuticals Announces FDA Approval of DAYBUE^® STIX (trofinetide) for Oral Solution, a New Powder Formulation of Trofinetide for the Treatment of Rett Syndrome

DAY-US-0876 9/2026

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