I knew something was different about my daughter Lucy by the time she turned 1.
She couldn’t bear weight on her arms or legs. She hadn’t started crawling or pulling up on things and she wasn’t talking at all.
Her hands made odd motions in the air, and she didn’t always respond when we called her name.
On Feb. 27, 2012, a few months before her second birthday, Lucy was diagnosed with Rett Syndrome, a genetic neurological disorder that occurs almost exclusively in girls.
Half of girls with Rett Syndrome are not able to walk, most cannot talk and all lose function of their hands to varying degrees.
The majority will experience seizures. Many also require feeding tubes.
My husband and I were devastated when we discovered the cause of Lucy’s delays. But the doctor who gave us her diagnosis was ill-informed. He literally said, “Her brain will just continue to deteriorate until she can’t do anything.”
This is false. Rett Syndrome is not a degenerative disorder. Luckily, my husband, Chad, and I sought a second opinion.
We took Lucy to a specialist in New York City, who educated us correctly on Rett Syndrome. We got involved with the International Rett Syndrome Foundation, traveled to the International Rett Syndrome World Congress and learned the best ways to care for Lucy.
For decades, the assumption has been all girls with Rett Syndrome are severely cognitively impaired. But Lucy is an excellent example of how that’s simply not always true.
She has the ability to think and to reason. She’s learned to use a special communication book called PODD, which stands for “Pragmatic Organizational Dynamic Display.” She uses the PODD to tell us her likes, dislikes, wants, needs and feelings.
With her PODD she suggested she try to feed herself more, even though her hands are often uncooperative. Lucy’s also expressed her desire to walk like everyone else. She amazes and inspires us because she pushes herself.
Of course, it’s hard for all of us that everything she does is a challenge. Lucy is completely dependent on us and always will be. And she’s noticed how she’s different. Using her PODD, she’s thanked us for helping her, but she’s also asked why she needs so much help.
Despite the frustrations and challenges, she’s happy most of the time. She is smiley, loving and very much like any other 3-year-old. She loves watching cartoons, listening to us read, coloring, finger painting, swimming and cuddling.
I have always felt very strongly that every person has the right to participate as fully as possible in everyday life, regardless of his or her abilities.
I am now on a full-time crusade to make that possible for Lucy. I spend every day trying to figure out ways to help Lucy live the best life she can. There is nothing I want more than to help Lucy reach her goals.
I do this because I believe in my daughter. I believe in Lucy.
Julie Shaffer lives in Drifting. Her essay aired Thursday on WPSU.