“What if …
you lost the ability to communicate,
to walk, to feed yourself, or hold your parent’s hands,
…by the age of 2?
What if …
you are given the fate of living a life that would be taken too soon?”
– Bill Farnum from Casting 4 a Cure describing Rett Syndrome
Rett Syndrome is a rare neurological disorder that strikes primarily young girls.
Rett Syndrome is a debilitating neurological disorder diagnosed almost exclusively in females. Rett Syndrome has been thought to affect 1 in 10,000 females. It is now believed, however, that the prevalence rate of Rett may be much higher. Although rare, it is possible for boys to also have the disorder.
Children with the disorder are born without any signs of the syndrome, but they lose their ability to speak by the age of two. Then the children become profoundly disabled, requiring 24 hour assistance with every aspect of daily living.
Facts about Rett Syndrome
- Children with Rett Syndrome appear to develop normally until 6 to 18 months of age.
- A regression robs the child of speech and hand skills.
- Motor-control problems, repetitive hand movements, irregular breathing, seizures, scoliosis and teeth grinding are all common symptoms.
- Mutations in the MeCP2 gene cause Rett Syndrome but have also been found in patients diagnosed with autism, schizophrenia, learning disabilities and neonatal encephalopathy. The biochemical mechanism of MeCP2 has been implicated in cancer.
- Rett Syndrome leaves its victims profoundly disabled and completely dependent on others for every basic need.
- Rett Syndrome knows no boundaries. It strikes all racial, ethnic and religious groups equally.
- There are no cures or treatments for Rett Syndrome.
- Loss of speech and motor control
- Functional hand use replaced by compulsive hand movements
- Disordered breathing
- Severe digestive problems
- Orthopedic abnormalities including scoliosis and fragile bones
- Disrupted sleep patterns
- Extreme anxiety
- Impaired cardiac and circulatory function
- Parkinsonian tremor
Read the stories of our silent angels to understand what challenges they are facing every single day.
Could our children be relieved of the horrific symptoms?
Research suggests … YES!
Rett was discovered and named after Dr. Andreas Rett, an Austrian doctor in 1954, but it took until 1983 to make Rett Syndrome more known in the medical community. A breakthrough came in 1999 when Dr. Huda Zoghbi found that a mutated gene called MeCP1 causes Rett. In 2007, Dr. Adrian Bird, a leading Rett Syndrome expert, reversed the symptoms of the disorder in a pre-clinical model using mice. Experts believe the results can be replicated in people and Dr. Adrian Bird gives hope:
“There is every reason to believe that intervention in this disorder will lead to an improvement if we can just now find the right source of interventions.”
Since 2010 human trials are conducted throughout the world and scientists believe that a cure is possible in our lifetime. Find out more about current trials on the Rett Syndrome Research Trust website.
A cure will not only benefit girls with Rett Syndrome, but it could have ramifications for a multitude of disorders including: Autism, Parkinson’s, Schizophrenia, Cancer, Bi-Polar disorders and many more.