Monday, October 31, 2011

Ahhh, October

October is Rett Syndrome Awareness month.  I've been meaning to write this all month but just haven't gotten to it until now.  Last year at this time Emmy was so close to walking independently.  She was a very content little girl.  She sat and played with her toys, flipped through books and had some words.  This year is much different.  She is walking which was a huge triumph but some of her gross motor skills have become harder for her.  She has lost most hand function and all of her speech.  She wants so badly to play, to communicate, to stop her hands from fidgeting but is simply unable to make her body do what she wants it to do.  It is because of the frustration I see on her face and hear in her screams I am sharing this information.

  •  Rett Syndrome is a severe neurological disorder that affects 1 in 10,000 girls.

  • For the first 6 to 18 months of life girls develop normally.  When the disease kicks in it either stalls their development or begins to drag it backward.

  • The most severe problem girls with Rett Syndrome have is apraxia, which is the inability to carry out motor movements.  Emmy knows exactly what she wants her body to do but can't make it work.  Imagine how maddening that would be!!!!

  • Girls with Rett Syndrome often experience many  medical complications such as; problems chewing and swallowing,  seizures, abnormal breathing, gastro-intestinal issues and heart problems.

  •  Rett Syndrome is a SPONTANEOUS genetic disorder. That means that it doesn't run in families - ANY expectant parent is at risk for having a child with Rett Syndrome. Rett Syndrome doesn't discriminate - all races, ethnicities and economical statuses are affected.

  • Girls who have Rett Syndrome have a mutation on their MECP2 gene which is located on the X chromosome.  Girls have two X chromosomes so therefore have one healthy copy of the MECP2 gene.  Boys have only one X chromosome so if they have a mutated MECP2 gene, they usually do not survive.  To learn more about Emmy's mutation type click here

  • Dr. Andreas Rett of Austria first recognized Rett syndrome in 1954 but it was not acknowledged in the U.S. until 1982 when Dr. Bengt Hagberg of Sweden wrote about it in English. In 1999, the gene causing Rett syndrome was discovered in the lab of Dr. Huda Zoghbi in the U.S.  Once the gene was discovered, girls were able to have a blood test to determine  whether they had a MECP2 mutation.

  • Life expectancy isn't certain as most girls identified are younger.  It is expected that girls live into adulthood barring any illness or complications.  Deaths are often sudden and unexplained and attributed to seizures, swallowing difficulties, lack of mobility, compromised lung function, accidents and illness.  

  • In 2007, symptoms of Rett Syndrome in mice were reversed in the lab of Dr. Adrian Bird in Scotland.  This reversal has provided much hope for those living with this disease everyday.  Now, they just have to figure out how to do this in humans!

  • Rett syndrome is often characterized as a “Rosetta Stone” disorder that can give insight into a host of other larger disorders such as autism, Alzheimer’s, and Parkinson’s.  Funding research for Rett could help solve the mystery behind these other devastating neurological diseases.

  • The first human clinical trial to attempt to treat the underlying mechanisms that cause Rett syndrome is underway at Boston Children's Hospital.  They have completed the first phase of the study and have seen promising results!  Read more about the study here

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