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Recently Diagnosed

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.

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.