A1: About Rett Syndrome

Many people don't know what Rett Syndrome is.  Those people that have heard of Rett Syndrome usually don't know what it entails unless they have experienced it first hand.  I am going to have multiple posts under the letter "A".  This first letter "A" post will briefly touch on what Rett Syndrome is.  Some of this information may be a bit technical....

(The following is information taken from the Girl Power 2 Cure Website):

What is Rett Syndrome?

QUICK FACTS:

• Debilitating neurological (movement) disorder that predominantly affects females.
• Baby girls are born "normal" but begin to lose acquired skills between the ages of 1-3 years old. 
• Caused by a single gene mutation that leads to underproduction of an important brain protein.
• The most severe form of autism.
• The leading genetic cause of severe impairment in girls - most cannot speak, walk or use their hands.
• Despite their physical disabilities, girls with Rett Syndrome are believed to be functioning mentally at a much higher level than previously thought.
• As prevalent as Cystic Fibrosis, ALS and Huntington's.
• Another little girl is born with Rett Syndrome every 90 minutes.
• Rett Syndrome is a potentially REVERSIBLE disorder. Research has proven once protein levels are back to normal levels, symptoms subside.

There are just a handful of disorders that only affect females. Breast cancer is the most prevalent. Rett Syndrome is just as devastating, and affects a potential one in 5,000 girls.

Condemned to an entire lifetime of struggles, these girls have been robbed of their ability to speak, walk, crawl, use their hands. They depend on others for every part of their day. Complications include seizures, sudden death in their sleep and scoliosis.

Today, there is no cure. But Rett Syndrome is CURABLE!
Amidst the mass confusion going on within their central nervous systems, they are smart, strong, and waiting bravely for us to unlock the door to their recovery.
Researchers at Harvard, Baylor, UVA, Weill Cornell, Emory, Salk Institute, University of Edinburgh and dozens of other top-notch institutions are delving into Rett Syndrome.
Why?
Not only will their work help thousands of girls and women worldwide, but their findings have a direct impact on research on Autism, schizophrenia, bipolar disorder, Alzheimer's and many other disorders.
In essence, our girls may hold the key to a cure for millions of people suffering from dozens of disabilities.
(The following is statistics taken from the International Rett Syndrome Foundation (IRSF):
What is Rett Syndrome?

Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.  Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.” Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births. Rett syndrome is a developmental disorder. It is not a degenerative disorder.  Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. (Which Alicia is already beginning to experience, she "wrings" her hands almost 24/7, the only time she really doesn't do it is while she is sleeping.  Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve. Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both. Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.  Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

We have been truly blessed that Alicia is still mobile and not confined to a wheelchair.  There is so much information out there, that if people would only take the time to understand it, it would make a world of difference.