Friday, October 15, 2010

no. 15: rett syndrome facts

dear little leah, 

just for the record, and since facts are a good educational tool, i figured i'd take a day and post some facts* about rett syndrome. here goes...
 rett syndrome is:
  • a neurological developmental disorder NOT a degenerative disorder seen almost always in girls, but can rarely be seen in boys. 
  • most often misdiagnosed as autism, cerebral palsy or some other non-specific developmental delay. 
  • caused by various mutations on the MECP2 gene located on the x chromosome {there are more than 200 mutations. you have two mutations and are one of two people in the world that we know of that has those particular mutations}.
  • affects 1 out of every 10,000 to 23,000 births, doesn't matter the racial or ethnic group. 
  • causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function {this includes learning, speech, sensory sensations, mood, movement, breathing, cardiac function, chewing, swallowing, digestion and more}.
  • genetic in 5% of the cases and random in the other 95%. 
 rett syndrome symptoms:
  • most commonly appear after normal development of up to 6-18 months of life. regression then follows when communication and purposeful use of hands is lost.  
  • include stereotyped hand movments, gait disturbances, slow head growth, seizures, irregular breathing patterns while awake, isolation or withdrawal at first, inconsolable crying, motor problems, teeth grinding and more. 
  • can range from mild to severe depending on the location, type and severity of the mutation and x-inactivation {from the x chromosome}.
  • come in four stages: early onset {6-18 months}, rapid destruction {1-4 years}, plateau {preschool to adulthood} and late motor deterioration {5-25+ years}.
rett syndrome history:
  • first noticed in 1954 by a pediatrician in vienna, austria named dr. andreas rett, as he observed two girls in his waiting room making similar repetitive hand washing motions. he found he had six other patients with similar histories and symptoms and began to travel throughout europe to find others. 
  • noticed in 1960 by a pediatrician in sweeden, dr. bengt hagberg.
  • in 1966, dr. rett published his findings in several german medical journals and in 1977 he published a description of rett syndrome in english. 
  • in 1983, dr. hagberg wrote an article about rett in a mainstream, english language medical journal; this was a breakthrough in communicating details to a wide audience. 
  • in 1999, researchers from baylor university in houston, tx {with some help from standford university in palo alto, ca} discovered the the MECP2 gene that, when mutated, causes rett syndrome. 
  • in 2007, the effects of rett syndrome were reversed in mice.
in the past decade, researchers have learned so much about rett syndrome and what it does and does not affect. we now know it's not degenerative, that you aren't mentally handicapped and you have a very high potential for learning. your brain just can't communicate very well with your body - things get blocked and all mixed up. 

life expectancy isn't certain, as most who have been identified are 18 or younger. statistics show life expectancy for girls with rett is less than the average person, but it is not nearly as low as was previously thought. many women are living in their 40s, 50s and beyond. about 5% of the cases reported to the international rett syndrome foundation have resulted in death. they are often sudden and unexplained and are usually attributed to "seizures, swallowing difficulties, lack of mobility, compromised lung function leading to pneumonia or malnutrition intestinal perforation as well as accidents and illnesses."

with so many ties to other illnesses such as parkinson's, md, austism, cerebral palsy and more, interest in rett syndome is increasing and awareness is rising. knowledge is power and the more knowledge we have, the more powerful we will be in helping you and thousands of other angels just like you. 

love you, little leah. 

*for more information, visit 


  1. one of two people? has leah met her "twin"? that is some good information. hey how can i set up fundraisers and things like that can like a church group go and do one to raise money? or community? how do i help?

  2. Thanks for sharing more information! Keep it coming. :)