Friday, October 9, 2009

Rett Syndrome Awareness Month

Although I personally am not a parent, I'm getting pretty good insight as to what it must be like as I watch my friends start their families. It seems to be like a rollercoaster ride… exciting, surprising, stimulating, and at times, down-right scary.

Ask an expectant mother is she wants a boy or girl, and likely, you’ll get back, “I just want a healthy baby.” From conception to birth and though adulthood, parents want the best for their kids. So imagine having a healthy baby girl, watching her grow; her first smile, her first steps, her first words; and finding out that your healthy baby girl has a disorder that’s going to undo all of this. This is what it’s like for a parent of a child with Rett Syndrome.

Rett Syndrome is a childhood neurodevelopment disorder, which means that it’s a disorder that affects the normal development of the nervous system in children. This specific disorder affects the development of all motor movements (including walking, breathing, blinking; basically any movement that your body does will be affected by this disease). It’s caused by a genetic mutation, and it mostly affects girls. Up until the 1950s, there was no name for it. Since then, over 4,000 children have been diagnosed.

Children with the disorder develop normally early on, but begin to show symptoms between 6 and 18 months of age. It usually starts with subtle changes, like the inability to hold a gaze or a delay in their ability to walk or crawl. However, as Rett Syndrome progresses, the child will have more trouble with programmed motor movements, such as speaking, walking, chewing, and even breathing.

Every case is different, and some are more severely affected than others. These kids generally survive into adulthood (approximately 70% live to between 35 and 40). They go to school, go on vacations, and spend time with family and friends. But they need help with daily activities, and they cannot communicate vocally, but can by other means.
In reading the letters of families with affected children, you know that these women are loved, and love. They may never have their own family and need physical assistance throughout their lives, but they, and their families, live life.

Because we now know the gene causing this disorder, doctors are able to screen for this mutation. The symptoms of this condition can be managed, but there is no cure.

If you’d like more information, are interested in reading more about the families affected by this disorder, or have a child with this disorder and are seeking support, visit the International Rett Syndrome Foundation website. For more information and to learn about studies being conducted, please visit the National Institute of Neurological and Stroke Disorders. You can also view many stories of these children and there families on YouTube.
Just one more reason why research for health is so important.


  1. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: I hope it helps. Thanks, AccessDNA

  2. Thank you! That's a valuable resource!