Rett Syndrome
By: Erin Szabo
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| "Hi I'm Emlyn. I'm madly in love with cucumbers. I love playing beauty shop with my mummy. The perfume is my favorite part. I hate hairbrushes, medicine, and sudden noises. I can bite my own toenails which I'm told is pretty yucky, but I have Rett Syndrome so I can't tell you any of this myself." |
My genetic disorder I chose is called Rett Syndrome. This disorder is caused by a mutation in a particular gene called MECP2, which is located on the X chromosome, but it is unclear how this mutation leads to Rett Syndrome. The name of Rett Syndrome originates from Dr. Andreas Rett, who in 1966, reported in German his findings in twenty-two patients. Symptoms of this genetic disorder include, but are not limited to, slowed growth, brain growth slows after birth, loss of normal movement and coordination, abnormal hand gestures, unusual eye movements, breathing problems, a curvature of the spine, and irritability. There is no cure for Rett Syndrome, but people living with it can undergo certain therapies such as hydrotherapy, occupational therapy, speech-language therapy, feeding or physical assistance, and certain medications. Current research being done is located at a website called curerett.org, but there is also a support group called the International Rett Syndrome Foundation (IRSF).
Resources used:
www.rettsyndrome.org
www.webmd.com/brain/autism/rett-syndrome/
www.ncbi.nlm.nih.gov
www.mayoclinic.org
www.curerett.org/rett-syndrome/
www.nichd.nih.gov
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