Monday, June 25, 2012

My Special Daughter

My daughter is special. She was born with Noonan Syndrome, a genetic syndrome caused by a gene mutation which appears to have been spontaneous in her case. She is a smart, stubborn, and often entertaining little girl. She is a ball of energy. She is a loquacious three-year-old with strong opinions. She is also tiny and very thin. She has certain features common to Noonan Syndrome, downward slanting eyes, prominent eyelids and epicanthal folds, low set ears, and a narrow face. From her diagnosis around seven months old, she has been through a battery of specialists and tests. The poor child has seen nearly every pediatric specialist in her early years to rule out any and all problems associated with Noonan Syndrome and help with her growth and hypotonia (low muscle tone). We also had a terrible scare the summer she turned two when one of her lymph nodes swelled up to the size of a golf ball in her neck (insert specialists, batteries of tests, multiple appointments, ending in a biopsy and CT under general anesthesia). All in all, she has been fairly healthy and her condition hardly limits her ability to engage in whatever activities a rambunctious three-year-old may want to engage in. And most of the time I'm able to put it all to the back of my mind. On a day to day basis, I don't worry about how being different will affect her in the future, about how having a syndrome attached to her person might shape her, about how other people will treat her or assume things about her, about how her body might betray her in the future, or about things like how she might feel about having kids and the possibility of passing the syndrome to them. I package all of those things and more into a tiny little box in the back of my head because Noonan syndrome is only a very small part of her. She is so so much more than that.

Then, like today, something happens-something which may seem very small and inconsequential to most people who don't have a child with a syndrome and haven't experienced what we have. I took my daughter to see the Ophthamologist and she was diagnosed with near-sightedness (myopia), astigmatism, and strabismus. The long and the short is that she needs glasses, her strabismus may or may not improve with glasses, and she may need to have patches or possibly surgery.  So by itself, perhaps, it isn't such a big deal. However, it brings that little box out from the back of my mind and pretty soon I'm unpacking it and arranging it in my head like it's furniture that I'm setting out to stay. I start to worry about her wearing glasses and how people will react and how she will feel especially as she gets older. I start to worry about things I haven't really thought about for awhile.  Because having a child who faces obstacles and has to deal with being different really does hurt. For her sake, I'll pack all of that away in a little while. I need to be strong for her because I know that sooner or later those worries will probably become her's too. I just hope that she can learn to move those worries back too. While the world may see her differently, I don't. She is a perfect little girl from her head to her toes.

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