International Rett Syndrome Foundation

Big News! Acadia Pharmaceuticals Inc. today announced that Health Canada has approved DAYBUE™ (trofinetide) for the treatment of #Rettsyndrome in adult and pediatric patients two years of age and older under the Priority Review process. The Notice of Compliance authorization of DAYBUE makes it the first and only drug approved in Canada for the treatment of Rett syndrome. Full press release here: https://lnkd.in/gN92gXZc

Don't forget to register and submit your questions for our next live RettEd session! During this webinar, Dr. Robin Ryther, a professor of pediatric epilepsy and medical director of the Rett Spectrum Clinic at Washington University in St. Louis, an IRSF-designated Center of Excellence (COE), will discuss approaches to the treatment of epilepsy in individuals with Rett syndrome of all ages. Learn more and share your questions with Dr. Ryther by registering: https://lnkd.in/gFgnj4sf

Every individual with Rett is unique and so are their symptoms. In most clinically diagnosed individuals, #Rettsyndrome is caused by a pathogenic variant - or mutation - on a gene on the X chromosome called MECP2. This gene is important for brain development and for activating and deactivating other gene functions. When the MECP2 gene does not function properly, it can cause issues throughout the entire body. These can include near-constant repetitive hand movements, seizures, scoliosis, digestive problems, and breathing issues, but the symptoms and their severity will be different for every individual. Though Rett occurs most often in females – 1 in 10,000 births – boys can have Rett too. Because Rett is not degenerative, individuals with Rett can live to middle age and beyond, but will need lifelong care. This October during Rett Syndrome Awareness Month, help spread the word about this rare disease by sharing this post or creating your own post, fundraiser, or personal page with our tools at rettsyndrome.org/october. More awareness means more support for families and more funding for the research critical to creating a world without Rett.

Siblings in our Rett community do so much for others. That's why we're excited to share that once again this year, Acadia Pharmaceuticals Inc. will be offering a Rett Sibling Scholarship to help them chase their own goals and dreams. For the 2025-26 academic year, 10 recipients will receive a $5,000 award to pursue their dreams in higher education and in honor of the often-unseen positive impact they make every day on someone they love with Rett syndrome. Applications for the scholarship will be accepted through January 30, 2025. Learn more and apply at rettscholarship.com.

Yesterday, the IRSF team went purple for our team meeting in anticipation of the Purple Out! Will you join us next weekend, Oct 18-20, or all month long in going purple during Rett syndrome awareness month? From asking your coworkers to wear their favorite purple shirt to lighting your porch purple, it's easy to participate! Learn more and let us know how you'll paint the town purple at rettsyndrome.org/october.

Have you registered for our fall RettEd Day at Children's Hospital of Philadelphia? Join us in person for a rich and informative day of topics and discussion covering research updates, medical and therapeutic intervention strategies, communications strategies, and more. Registration is just $10 per person and free for individuals with #Rettsyndrome. Space is limited! Learn more and register today: https://lnkd.in/gtzTqaHS Thank you to our 2024 empowerment sponsors, presenting sponsor Acadia Pharmaceuticals Inc. and diamond sponsors Neurogene Inc. and Taysha Gene Therapies, for helping IRSF provide educational resources and support to families affected by Rett syndrome.

There are more than 10,000 known rare diseases and more than 95% of those disorders have no treatment. But as of last year, Rett syndrome is NOT one of them. Thanks to the decade-long perseverance and commitment of families, researchers, and donors, Rett syndrome is one of the few rare diseases with an FDA-approved treatment. (Source: National Organization for Rare Disorders) Rett is not one-size-fits-all; because Rett syndrome has a broad range of presentations, we need a broad range of treatments and cures. One is not enough, but we have HOPE. With your support, we are able to fund the most promising Rett research - genetic approaches, but also fundamental biology, clinical research, and more - to find solutions for EVERY individual with Rett as quickly as possible. So this October during Rett Syndrome Awareness Month, we invite you to join us in raising awareness and critical funds to find treatments and cures for Rett. Learn more about Rett syndrome and the tools available to support our mission in honor of your loved one with Rett at rettsyndrome.org/october.

You're invited to join us for this live RettEd session with a goal of educating families on approaches to the treatment of epilepsy in Rett syndrome. The session will include a discussion of medication options but also non-medication options including special diets, surgical options, and supplements such as CBD oil, and will also review special circumstances specific to Rett Syndrome. This information is appropriate for individuals with Rett syndrome of all ages. The session will be led by Dr. Robin Ryther, a professor of pediatric epilepsy and medical director of the Rett Spectrum Clinic at Washington University in St. Louis, an IRSF-designated Center of Excellence (COE) for Rett syndrome care. Register and submit your questions here: https://lnkd.in/gFgnj4sf

October is Rett Syndrome Awareness Month. 💜 Rett syndrome is a rare and devastating neurodevelopmental disorder that impacts nearly every aspect of an individual’s life. It is caused by a spontaneous pathogenic variant—or mutation—on a gene called MECP2 that is located on the X chromosome. This gene is important for brain development and for activating and deactivating other gene functions, so when the MECP2 gene does not function properly, it causes issues throughout the entire body. Every individual with Rett is unique and so are their symptoms. Symptoms can begin as early as 6 months old when parents begin to see their child miss development milestones and lose abilities they had already gained. These symptoms can include near-constant repetitive hand movements, seizures, scoliosis, digestive problems, and breathing issues. Though Rett occurs most often in females (approximately 1 in 10,000 births), boys can have Rett too. This October, we need your help to raise awareness and critical funds in our fight against Rett. Learn more about Rett syndrome and the resources available to join us in support of your loved one with Rett syndrome, including social media graphics, profile frames, and more. Visit rettsyndrome.org/october to get started.

Get Ready! It's almost Rett Syndrome Awareness Month, and this October there are so many NEW ways you can join IRSF to help increase awareness of Rett syndrome around the globe. Visit rettsyndrome.org/october to learn how you can GO PURPLE for Rett, and check out our new profile picture frames and social media infographics. More awareness means more support for families and more funding for critical research. How will you raise awareness for Rett this October?