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Who Is She?

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Most parents of a four-year-old know a good deal about their child—everything from favorite colors and television characters to deep-seated fears and hopes for the future. Yet I know none of these things about my four-year-old. She is our family’s mystery.

When JJ was two, the few words she had mastered—bird, dog, up, Dada—slipped away. When she was three, she began wringing her hands together and dropping anything in her grasp. Without a voice to speak or hands to gesture and point, there was no real way to know what was going on in her mind.

Thanks to a genetic screening we learned the reason for her struggles. JJ has Rett Syndrome—a rare progressive disorder caused by a mutation on the X chromosome. It manifests in toddlerhood and often results in the inability to speak, loss of hand use, anxiety, seizures, mobility difficulties, and breathing issues. With the diagnosis came the gut-wrenching knowledge that JJ’s words and hands were never likely to come back.

The grief I felt upon hearing this is not something that can be described in one thousand words. Even a million wouldn’t be sufficient. But my sorrow was compounded by the fact that I still knew very little about my child. I wasn’t likely to learn much about her for a good while, either. Some girls with Rett Syndrome use an eye-gaze device to talk, but it takes months, if not years, to gain the skills necessary to use one. In the meantime, much would remain trapped in my daughter’s brain—permanent riddles we might never decipher.

After JJ’s diagnosis I connected with other Rett parents who insisted that, if I wanted to, I could find ways to bridge the divide separating me from my daughter. She’s in there, they told me, over and over again. As I read message boards and scrolled through Facebook posts, I stumbled upon story after story that supported this refrain: girls who typed out homework with their eyes, girls who graduated from high school, girls who made jokes and played games and fought with their siblings.

Maybe they’re right, I thought. Maybe my daughter is in there. Maybe I just haven’t found her yet.

The stories helped me see that JJ was no longer a mystery our family could afford to ignore. She deserved to be seen and heard and known. But if I was going to find the person buried inside of her, I had to treat her differently. It had always been easy to talk around her, to make decisions for her, but I had to stop. Instead, I began telling her where we were going, what we had planned for each day, and what was happening in our lives.

JJ’s reactions revealed just how much understanding had been simmering below the surface. When I told her we would be visiting a new place later in the day, she groaned loudly and rolled her eyes at me. When I let her know we didn’t have any doctor visits scheduled for the week, she broke into peals of delighted laughter and bounced up and down in my lap. On the way home from preschool, I explained that when she was a big girl, she could go to school all day long. She let out an ear-piercing squeal of joy.

And so I began to learn about my child. She was wary of new things. She disliked doctors. She loved going to school. None of this information was earthshattering, but a picture of someone—a person with concrete likes and dislikes—was forming. A child was emerging from the fog.

It wasn’t nearly enough. I wanted more. Other Rett parents had taught their girls to answer yes/no questions with the few body parts their children could control. One day at snack time, I armed myself with some potato chips and patience and gave it a shot. “Look at me like this”—I made intense eye contact with JJ—“if you want something.” I turned my head away. “And do this, if you don’t.” It didn’t take long for her to master the technique. She told me that no, she didn’t want wavy chips. No, she didn’t want barbecue ones. Yes, she wanted Pringles. For the first time, my daughter was able to choose the food she wanted at a mealtime. I think it was the best snack she had ever eaten.

JJ’s new mode of communication opened up a world of possibilities. She could tell me what she wanted for dinner, if something hurt, or if she felt hungry or tired or thirsty. But it only scratched the surface of who she is and what she can do. It’s a beginning, rather than an end.

JJ still has much work ahead of her before our family can truly get to know her. Using low-tech picture cards, she must first learn to use her eyes to make choices between objects. Once she can do this, she will move on to a high-tech eye-gaze device. The machine will speak out loud the words she chooses, allowing her to read, write, and talk to the people around her. Only then will I have the kind of knowledge about my child that every parent craves.

There are many reasons to feel optimistic about JJ’s future. Her disease has been reversed in mice. A promising drug will soon go up for FDA approval. A gene replacement program is on the horizon. But there are still many unknowns in the world of Rett Syndrome. For the time being, my daughter remains one of them.

It may take me years to learn who she is, but there is one thing I’m sure of. She is in there. Someday—with the help of an eye-gaze device, experimental drugs, gene therapy, or all of the above—I will find her.

It’s likely to be one of the best discoveries of my life.


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