KeleyaSue
04-11-2007, 02:34 PM
http://i196.photobucket.com/albums/aa141/Jesticles05/beautifulkaylah.jpg
I have recently discovered that my good friends little daughter Kaylah of 3 years has been diagnosed with a a very terrible Sydrome called RETT SYNDROME
About Rett Syndrome:
Rett Syndrome (RTT) is a debilitating neurological disorder diagnosed almost exclusively in females. Children with RTT appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.
Historically, RTT was believed to affect 1 in 10,000 females. Many scientists now believe that the prevalence of RTT is in fact much higher. We suspect there are thousands of girls and women undiagnosed or misdiagnosed (eg. autism, cerebral palsy). Although rare, it is possible for boys to have RTT.
RTT is caused by mutations in the gene MECP2, located on the X chromosome. RTT knows no geographic, racial or social boundaries. Fewer then 1% of Rett cases are familial. Any expectant parent is at risk for having a child with RTT. Over a hundred separate mutations in MECP2 have been identified to date. Drawing correlations between specific mutations and symptoms has proven difficult.
Although some individuals with RTT die at a young age, the majority live into adulthood.
http://i196.photobucket.com/albums/aa141/Jesticles05/mecp2_on_xchr.jpg
The leading cause of RTT is sporadic mutations in a gene called MECP2, located on the X chromosome. Studies have shown that more then 95% of mutations originate from a mutated sperm.
The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing other genes. Scientists suspect that the inability to shut down specific genes causes the cascade of symptoms seen in RTT.
How mutations in MeCP2 lead to RTT is not well understood but is the focus of intense research. Experiments suggest that MeCP2 is not required for early brain development but rather is essential for the maintenance of maturing brain cells (neurons).
Diagnostic Criteria:
Period of apparent normal development until 6-18 months (some girls have an earlier onset of RTT symptoms and therefore have no normal period of development).
Normal head circumference at birth followed by slowing of the rate of head growth (there is a subset of girls whose rate of head growth does not decelerate).
Loss of verbal language.
Purposeful hand use is replaced by stereotypical hand movements (these can include a multitude of hand movements, some girls have movements unique to them or none at all).
If able to walk the gait is usually wide-based and stiff legged.
Shakiness of torso and/or limbs, especially when upset.Supportive Criteria:
Breathing pattern irregularities which include hyperventilation, breath holding, apnea, air swallowing
EEG abnormalities
Seizures
Scoliosis
Teeth grinding
Gastrointestinal issues which may include reflux, constipation, poor nutrient absorption
Growth retardation and decreased body fat and muscle mass
Biting/Chewing/Swallowing difficulties
Poor circulation to legs and feet
Decreased mobility with age
Muscle rigidity/spasticity/joint contractures
Small feet
Abnormal sleep patterns
Irritability and agitationSupporting Rett Syndrome:
Like Breast Cancer Awareness there is also a RETT SYNDROME Awareness month which is in October all over the world unfortunatly i was unaware of this but i have done some research and in Australia we have a Rett Syndrome ANGEL week which is on the 26th-30th of November. The products you can buy are really cute little Angels(below) you can get Ornaments to ingrave for your xmas tree, Pins, Pens, Writting Pads etc...
Rett Syndrome is starting to expand and Researches are trying to find a cure so by buying these products you will be Supporting all the little girls who have this terrible digangnosis and all the money will be going directly to the Childrens Hospital in Westmead to further find a Cure.......
If you are interesting in supporting the Rett Syndrome research you can purchase ANGELS for Angel week you can get them from any ED HARRY MENSWEAR stores (in stores now).
http://i196.photobucket.com/albums/aa141/Jesticles05/rett_angel_decoration_small1.jpg
Thankyou for your support!!
I have recently discovered that my good friends little daughter Kaylah of 3 years has been diagnosed with a a very terrible Sydrome called RETT SYNDROME
About Rett Syndrome:
Rett Syndrome (RTT) is a debilitating neurological disorder diagnosed almost exclusively in females. Children with RTT appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.
Historically, RTT was believed to affect 1 in 10,000 females. Many scientists now believe that the prevalence of RTT is in fact much higher. We suspect there are thousands of girls and women undiagnosed or misdiagnosed (eg. autism, cerebral palsy). Although rare, it is possible for boys to have RTT.
RTT is caused by mutations in the gene MECP2, located on the X chromosome. RTT knows no geographic, racial or social boundaries. Fewer then 1% of Rett cases are familial. Any expectant parent is at risk for having a child with RTT. Over a hundred separate mutations in MECP2 have been identified to date. Drawing correlations between specific mutations and symptoms has proven difficult.
Although some individuals with RTT die at a young age, the majority live into adulthood.
http://i196.photobucket.com/albums/aa141/Jesticles05/mecp2_on_xchr.jpg
The leading cause of RTT is sporadic mutations in a gene called MECP2, located on the X chromosome. Studies have shown that more then 95% of mutations originate from a mutated sperm.
The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing other genes. Scientists suspect that the inability to shut down specific genes causes the cascade of symptoms seen in RTT.
How mutations in MeCP2 lead to RTT is not well understood but is the focus of intense research. Experiments suggest that MeCP2 is not required for early brain development but rather is essential for the maintenance of maturing brain cells (neurons).
Diagnostic Criteria:
Period of apparent normal development until 6-18 months (some girls have an earlier onset of RTT symptoms and therefore have no normal period of development).
Normal head circumference at birth followed by slowing of the rate of head growth (there is a subset of girls whose rate of head growth does not decelerate).
Loss of verbal language.
Purposeful hand use is replaced by stereotypical hand movements (these can include a multitude of hand movements, some girls have movements unique to them or none at all).
If able to walk the gait is usually wide-based and stiff legged.
Shakiness of torso and/or limbs, especially when upset.Supportive Criteria:
Breathing pattern irregularities which include hyperventilation, breath holding, apnea, air swallowing
EEG abnormalities
Seizures
Scoliosis
Teeth grinding
Gastrointestinal issues which may include reflux, constipation, poor nutrient absorption
Growth retardation and decreased body fat and muscle mass
Biting/Chewing/Swallowing difficulties
Poor circulation to legs and feet
Decreased mobility with age
Muscle rigidity/spasticity/joint contractures
Small feet
Abnormal sleep patterns
Irritability and agitationSupporting Rett Syndrome:
Like Breast Cancer Awareness there is also a RETT SYNDROME Awareness month which is in October all over the world unfortunatly i was unaware of this but i have done some research and in Australia we have a Rett Syndrome ANGEL week which is on the 26th-30th of November. The products you can buy are really cute little Angels(below) you can get Ornaments to ingrave for your xmas tree, Pins, Pens, Writting Pads etc...
Rett Syndrome is starting to expand and Researches are trying to find a cure so by buying these products you will be Supporting all the little girls who have this terrible digangnosis and all the money will be going directly to the Childrens Hospital in Westmead to further find a Cure.......
If you are interesting in supporting the Rett Syndrome research you can purchase ANGELS for Angel week you can get them from any ED HARRY MENSWEAR stores (in stores now).
http://i196.photobucket.com/albums/aa141/Jesticles05/rett_angel_decoration_small1.jpg
Thankyou for your support!!