Hello Everyone! This summer my step-daughter Annie's diagnosis changed from autism to Rett Syndrome. It has been a hard adjustment on Emily and I as we have learned of all the difficulties it could mean for Annie in the future. We were also given some unexpected hope. Rett syndrome is the only autism spectrum disorder that has a known cause and research is now focused on treatment/ a cure.
Most of you know what a special girl Annie is. For those of you that do not. She is a very happy loving little girl. It would mean so much to her mom and myself for her to just communicate. We cannot imagine what treatment could mean for her! Because of Rett Syndrome awareness month, I wanted to take part in helping the International Rett Syndrome Foundation raise money to more forward in their research. The greatest part of this fund raiser is that the knight that raises the most money receives a FREE Ipad2 for the Rett Angel in their life. We have been saving for one for Annie because it is a great communication/learning tool for her! Please donate for the big picture of research but also to help us, help Annie learn and communicate in a way that is motivating to her! Please know that your donation is tax deductile and will be acknowledged by 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. 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.
What’s Happening with Research?
Since the identification of the MECP2 gene in 1999, research on Rett syndrome has made important advances. Through research we have gained a greater understanding of the molecular mechanisms underlying Rett syndrome which result from MeCP2 dysfunction.
Scientific research has yielded some exciting developments:
• Numerous target genes have been identified that are regulated by the MeCP2 protein
• Genetic studies have begun to identify additional causative genes such as CDKL5 and FOXG1
• Valuable animal models have been developed that effectively reproduce the disease and demonstrate the potential reversibility of the disease
• Neurobiological studies have enabled us to determine some of the neurological underpinnings of Rett Syndrome pathogenesis
The International Rett Syndrome Foundation has played a critical role in driving this progress forward through grant funding. Since 1998 IRSF has awarded over $24M in direct support of research grants towards innovative basic and preclinical research. These grants are primarily focused on understanding the mechanisms that contribute to Rett syndrome and its associated complications.
• Gene discovered (we know what causes it!) - 1999
• Animal models created (we can study it!) - early 2000's
• Reversed in a mouse model (we can fix it in the lab!) - 2007
• iPS cell lines created (Rett in a petri test from real skin cells of girls with the disease - we can test real drugs on real cells - mice are not people!) - 2010
• IGF-1 drug trial begins in Boston, shows early promising results (first trial to try a FIX for symptoms, not just treat them!) - 2011
• Pace is dizzying, the research dollars invested are really paying off today, please support IRSF!
Many thanks for your support -- and don't forget to forward this to anyone who you think might want to donate too!