Getting a Rett syndrome diagnosis is one of the hardest things you’ll ever face. We know this first-hand at RSRT. We’re parents too. Emotions can run the gamut and it can all seem overwhelming. You’re worried about your child and your family and what the future will look like. You are reading everything you can get your hands on but you are not sure how to interpret it or if it's relevant.
You are not alone. We are here to help you make sense of all the information, to listen, to answer questions, to help you navigate the emotions you are experiencing, and, very importantly, to give you tangible reasons for optimism.
Reasons for Optimism
Rett syndrome is challenging, for our children who have it first and foremost, but also for parents and all family members. We want you to know these facts that give us optimism, strength, and confidence about today and the future:
- Rett syndrome can never take away the immense love we have for our children. No diagnosis could ever do that. Our children with Rett return that love to us in the most profound ways.
- Research has made exciting progress. The mutated gene that causes Rett is known, so scientists have a target to attack. Rett is not neurodegenerative so brain cells don’t die. Remarkably, Rett has been reversed in animal models of the disease.
- Many families are relieved to get the diagnosis. Uncertainty is replaced with a sense of empowerment that you can now get involved and help push the research forward.
- There is a wonderfully supportive Rett community of fellow parents and family members. We can help introduce you to them.
- We are part of your team. At RSRT we fight every hour of every day for your child and ours. Our goal is a cure, and we won’t rest until we achieve it.
In March 2023 the FDA approved DAYBUE as a treatment for Rett syndrome. Our science team, in response to many families asking for our help in understanding the results of the clinical trial, prepared a document called DAYBUE (Trofinetide): Key Facts for Parents. The purpose of this document is to provide facts to help families and their physicians make their own risk: benefit assessment about DAYBUE.
What do I do first?
Please register with us. It takes only a minute. This will give you access to RSRT research updates, and information about webinars and other activities. If you are a parent or relative of a child with Rett you’ll be subscribed to RSRT’s e-newsletter for families.
What do I do second?
Email or call Monica Coenraads, RSRT’s Founder and CEO. Monica has a daughter with Rett and can answer your questions about the disorder and the research. If you wish, Monica can also connect you with other families in your area or with children of the same age. You are not alone, and Monica can be an important resource.
Monica Coenraads, | email@example.com | 203.445.0041
What do I do third?
Join the digital natural history study. Share your child's electronic medical records and help us learn more about Rett syndrome while advancing drug development efforts.
What do I do fourth?
Join the Rett Syndrome Global Registry! The Registry is a fully remote parent-reported database to centralize your loved one's informationt, track and graph health data, share data with doctors to improve care, and contribute to a cure for Rett!
Thriving with Rett
RSRT is spurring research that’s leading to a cure. But until we have the cure, we and our children need to live fulfilling, healthy, happy lives. We’d like to help you thrive with Rett. We encourage you to contact us and talk to us. We don’t have all the answers, but we have experience living and thriving with Rett, and we are always eager to help.
We also offer our Thriving with Rett Guides to provide important information and resources. These guides are written by experts in each field who have experience working with children or adults with Rett syndrome. They are designed for both newly diagnosed families and for families who have had the diagnosis for years. We hope you find them useful.
About Rett Syndrome
Imagine the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy, and anxiety disorder … all in one little child.
Rett syndrome is a serious, lifelong neurological disorder that is caused by random mutations in a gene called MECP2. Diagnosed primarily in girls, symptoms typically appear in toddlerhood. Many children with Rett are unable to speak, walk, or use their hands. Breathing problems, feeding tubes, seizures, anxiety, and gastrointestinal and orthopedic issues are common.
Despite the debilitating nature of the disorder our children are so much more than a laundry list of symptoms. Their beauty and their strength inspire and motivate us.
Rett syndrome stands apart from other neurological disorders due to the dramatic reversibility of symptoms in animal models. Our confidence that Rett syndrome is curable guides our every decision.
Although rare, boys can also have Rett syndrome. Please visit our Genetics Primer to learn more. With the exception of the MECP2 Reactivation strategy all the research that RSRT supports is also applicable to boys.
Rett Fact Cards
Next time you find yourself answering questions about your child and Rett syndrome with people you meet at a restaurant, school function, or standing in line at the grocery store, whip out a personalized Rett Fact Card.