Acadia Pharmaceuticals

Rett syndrome affects an estimated 1 in 10,000–15,000 female births, leading to severe impairments in communication, mobility, and daily functioning. While research has deepened our understanding of mutations in the MECP2 gene, early recognition can facilitate appropriate assessment and access to multidisciplinary care and support.

A Ema le diagnosticaron el síndrome de Rett justo antes de cumplir cinco años y ahora, con 15 años, está cursando la educación secundaria. Aunque no habla, es una experta en enseñar a los que la rodean que la comunicación va mucho más allá de las palabras. Hace un gran esfuerzo diario para que su voz se escuche, utilizando el contacto visual y un lenguaje corporal expresivo para conectar profundamente con su comunidad. Durante la transición al instituto, sentirse incluida es vital para Ema. Cuenta con una sólida red de familiares, compañeros y profesionales que la apoyan y que se toman el tiempo necesario para relacionarse con ella respetando sus propios tiempos y su manera de comunicarse.

Diagnosed with Rett syndrome just before her fifth birthday, Ema is now a 15-year-old navigating high school. Although she is non-speaking, she is an expert at teaching those around her that communication goes far beyond words. She puts immense daily effort into making her voice heard, utilising eye contact and expressive body language to connect deeply with her community. While transitioning to high school, feeling included is vital to Ema. She relies on a strong network of supportive family members, peers, and professionals who take the time to engage with her on her own terms.

Peyton received her Rett syndrome diagnosis at the age of eight, following years of specialist visits and family-led research. As a non-verbal child, she relies on a communication journal that travels with her everywhere. For her grandmother, Bonny, a secondary caregiver and steady presence in Peyton's routine, these details help bridge the gaps between settings and ensure her care remains consistent across each one. Mood disturbances, a recognised symptom of Rett syndrome, can ripple through an entire family network, underscoring the wider impact the condition may have on those closest to a patient. Read Peyton's story to see how understanding individual communication styles and coordinating across caregivers could support better outcomes for people living with Rett syndrome.

Peyton a reçu son diagnostic de syndrome de Rett à l’âge de huit ans, après des années de consultations chez des spécialistes et de recherches menées par sa famille. Comme elle ne parle pas, elle utilise un journal de communication qu’elle emporte partout avec elle. Pour sa grand-mère, Bonny, qui est l’une des personnes qui s’occupent de Peyton et une présence constante dans son quotidien, ces informations permettent de faire le lien entre les différents lieux et de garantir la cohérence des soins prodigués dans chacun d’entre eux. Les troubles de l’humeur, qui constituent un symptôme reconnu du syndrome de Rett, peuvent se répercuter sur l’ensemble du réseau familial, ce qui souligne l’impact plus large que la maladie peut avoir sur les proches des patients. Lisez le témoignage de Peyton pour découvrir comment la compréhension des styles de communication individuels et la coordination entre les soignants pourraient contribuer à améliorer la prise en charge des personnes atteintes du syndrome de Rett.

Peyton received her Rett syndrome diagnosis at the age of eight, following years of specialist visits, and family-led research. As a non-verbal child, she relies on a communication journal that travels with her everywhere. For her grandmother, Bonny, a secondary caregiver and steady presence in Peyton's routine, these details help bridge the gaps between settings and ensure her care remains consistent across each one. Mood disturbances, a recognised symptom of Rett syndrome, can ripple through an entire family network, underscoring the wider impact the condition may have on those closest to a patient. Read Peyton's story to see how understanding individual communication styles and coordinating across caregivers could support better outcomes for people living with Rett syndrome.