DESCRIPTION
RTT occurs when there is a variation (akin to a misspelling) in the MECP2 gene. This gene is important for the development of the brain. It is located on the X chromosome.
Humans have two sex chromosomes—the X and Y chromosomes. Females have two X chromosomes (XX) while males have one X and one Y chromosome (XY). This variation on the MECP2 gene causes males to die before birth or shortly thereafter, and thus we mostly see the disease in girls.
Usually, children affected by Rett syndrome will develop normally from birth to 6 months of age. Then they can lose skills they have already learned, like talking, sitting, or picking up toys. This is called a developmental regression.
SIGNS AND SYMPTOMS
The clinical features of RTT can be divided into four stages.
Stage 1 (6-18 months old)
Stage 2 (1-4 years old)
During Stage 2, changes occur more rapidly, and children may lose skills that they have developed. This is called developmental regression.
Some children may develop:
- Loss of speech
- Inability to control arms and hands (can’t grab toys)
- Repetitive hand movements (flapping, clasping, rubbing, tapping, or a wringing movement that looks like hand washing)
- A change in breathing (breathing slow or fast; holding breaths)
- Microcephaly (small head)
Stage 3 (2-10 years old)
During Stage 3, changes again occur more slowly.
Some children may have:
- Development of seizures (a burst of electrical activity in the brain that can cause the body to behave abnormally)
- An inability to perform learned movements on demand
- Difficulty chewing and eating along with poor weight gain
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Resources
International Rett Syndrome Foundation
The mission of the International Rett Syndrome Foundation (IRSF) is to transform the lives of all those affected by Rett syndrome. IRSF funds research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs, and services. IRSF coordinates and funds research that will produce a cure for Rett syndrome and identify and develop treatments that will make the lives of people living with Rett syndrome richer and free of pain and discomfort. IRSF also assists families of individuals living with Rett syndrome and advocates for and raises awareness about individuals with Rett syndrome. IRSF also hosts a private Facebook group, Parents of Newly Diagnosed Rett Syndrome Support.
Girl Power 2 Cure
The mission of Girl Power 2 Cure is:
- To empower and support families affected by Rett Syndrome
- To educate and enrich the lives of those with Rett Syndrome as well as those who teach and support them
- To help eradicate the disorder through research targeted donor outreach
This organization also hosts a private Facebook group, Girl Power 2 Cure.
Rett Syndrome Angels
Rett Syndrome Angels is an organization of parents, family, and friends committed to improving the lives of every child afflicted with Rett syndrome. Formally, the Rett Syndrome Association of Massachusetts (RSAM), they have been supporting families throughout New England by providing services, resources, and awareness. While they are based in Massachusetts, they do have virtual webinars, online educational programs, and newsletters that provide resources for anyone looking for information on Rett syndrome. RSA also hosts a public Facebook group, Rett Syndrome Angels, that anyone worldwide can join.
Family Stories
Girl Power 2 Cure shares stories of hope and inspiration from families living with Rett syndrome.
On the International Rett Syndrome Foundation blog page you will find stories from other families who are willing to share their wisdom, experiences, worry, and hope with you! Know that you are not alone in this journey and become a part of a community who is making strides towards finding a cure.
Thirteen-year-old Lucy Heimburger was diagnosed almost a decade ago with Rett syndrome as a toddler.
“Rett syndrome is a really tough diagnosis. I wish I could say otherwise. It catches people by surprise because it doesn’t run through generations, it’s such a random thing that you are just blindsided,” her father, Matthew Heimburger, told the Child Neurology Foundation in an interview.
Life for the Heimburger family doesn’t look the way they imagined. But it also doesn’t look quite as different as they once thought it would.
“Lucy has a gratitude and a love and a forgiveness that I will spend my whole life trying to learn. And she has it now. She is somebody really special.”
