Hey Everyone,

 

I am reaching out to you today to not only to share my Peanut's story with you, but to ask you for help in raising money for her.

 

Being a soldier in the U.S. Army, from time to time, I have been called a "Hero". I don't know how true that really is; I'm just a person serving my country to help preserve the lifestyle and freedoms that we all want to enjoy. Recently I came across a chance and opportunity to really be a Hero- for my Angel, Riley. The International Rett Syndrome Foundation (IRSF) is holding a fundraiser from now until the end of October entitled "Her Knight". The funds will all be collected up and put forward to aid research and functions to raise awarness in our communities.

 

I would like to take just a brief moment and share with you my little Princess' story:

 

Riley was born on 1 September 2006. She was a very happy, average, little baby girl who loved to play with her mom, dad and all her family. She was a little behind typical standards for development but was learning to crawl, talk, and feed herself. At her 18 month check-up we were encouraged and decided to start seeing a developmental therapists with the First Steps program in our state to help her progress. That same month, I deployed to Afghanistan for 13 months and my incredible wife, Jess, being the amazing mother that she is, faithfully worked with our daughter and soon started seeking answers for questions in Riley's developmental process. Her searching eventually led us to our diagnosis of Rett syndrome in November of 2008, just after her 2nd birthday. Since that time we have had Riley working with ABA, Developmental, Physical, Occupational, Speech, and Music therapists. We have even found therapeutic horseback riding. All of these, along with the work Jess has done with our Princess, has brought so much progress in our Peanut's mobility, and communication. Riley started with a "Big Mac" switch to request a drink, or a snack and has since progressed to using Eye Gaze to choose from a selection of pictures to let us know what she wants. She is learing independance and the freedom to choose for herself. During this time, I had a second deployment to Afghanistan for 12 months, and have unfortunately missed out on many opportunities to be directly involved with her work. Now I am asking you to help me take this chance to really make a difference in my Angel's life by donating and helping me raise money for research in my Riley's name. As an added bonus, if we raise the most money, we will win an iPad2 for Peany that we can download software to use as a portable communication device. The link to Riley's Hero page is http://www.firstgiving.com/fundraiser/rileyshero/2011HERKnightChallenge

 

Below, I am including some information about what Rett Syndrome is and some of the work that is being done to fight it.

 

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.

Or just share the link directing donors to the research section on the IRSF website! http://www.rettsyndrome.org/index.php?option=com_content&task=blogsection&id=6&Itemid=944

You could also share this exciting wording about research!

• 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!
 

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