So what is Rett syndrome anyway?

I scoured the most respected sources for a good definition of Rett syndrome to put out to you this afternoon. The problem is that most sound so clinical. The majority spout off symptoms one after the other without giving pause to the life-impact each carries. A few personalize the definition in ways that help express this impact, but at the cost of conveying the spirit and determination that makes our girls so admirable.

So I present to you a brief definition from the Genetics Home Reference (U.S. Library of Medicine):

"Rett syndrome is a disorder of brain development that occurs almost exclusively in girls. After 6 to 18 months of apparently normal development, girls with the classic form of Rett syndrome develop severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms can include breathing abnormalities, seizures, an abnormal curvature of the spine (scoliosis), and sleep disturbances."

I will paraphrase and personalize that...

 You begin, most often, with a healthy baby girl and delight in how she is growing and developing. At some point between 6 and 18 months (though there are variations that expand this window of time), she experiences some confusing and sometimes painful changes in her body. She stops talking and pointing. She can't pick up Cheerios or her sippy cup any more; instead, she sucks on her fingers or clasps her hands together from waking till bedtime. She may lose some or all of her ability to stand or walk or run. She develops excruciating heart burn or constipation (or both), but she can't tell you where she hurts. Her ability to coordinate muscles for chewing and swallowing may begin to disappear. She may begin to have seizures. She is terrified by the changes happening inside her and frightened that you can't make them stop. This may cause her to become irritable, inconsolable or withdrawn.

You watch what is happening and panic. You love this little girl absolutely and know how bright she is. You heard her communicate clever ideas just weeks or months ago; surely your little one's mind has not been lost in this physical decline. You watch closely and you do see it, between the crying and vomiting and fits of sheer frustration. When the world is not overwhelming her already-overwhelmed body, you see her learning. The spark is not gone. She is in there.

You work with your daughter to help her cope: finding medications to stop the heart burn and constipation, learning her signals to indicate she needs an escape from sensory overload, perhaps switching her to a g-tube so she won't have to battle the terror of choking during meals. Once some of the physical problems are corrected and she is given a new set of adaptive strategies, your daughter is able to emerge from the broken physical shell. She once again shoots those dazzling smiles that melt the heart of the toughest logger. She communicates with her eyes now, sometimes with deep layers of meaning that do not hit you until days later. You were right all along about her spark burning inside. You can appreciate her strength and courage in the face of such huge challenges. You watch her dogged determination as she struggles to perform the simplest of tasks. With every ounce of your being you wish her world could be different, but yours has become all the richer because of her.

Check out more about Rett syndrome at the following websites:

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