Plenty of people create bucket lists of things to do and see throughout their lives, but one Ohio couple is really breaking the mold by creating a “visual bucket list” of things they’d like their daughter to see before she loses her sight.
Steve and Christine Myers had their world turned upside down recently when their 5-year-old daughter, Elizabeth, was diagnosed with Usher’s syndrome type II, a rare genetic disorder that causes hearing and vision loss. The girl was already diagnosed with bilateral hearing loss a little more than a year ago, but it took further testing to reveal her disease.
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Now doctors estimate Elizabeth has between five and seven years before she loses her sight entirely, and her parents are scrambling to show her the world. They’ve created a “visual bucket list” for their daughter, with all the things they think she needs to see. The list includes trips to see things like the northern lights, the Grand Canyon, Niagara Falls and other famous landmarks. They also say they intend to spend a lot of time stargazing and watching sunsets at the beach.
They’re making the most of the time they have left, but they say that almost wasn’t the case. When Elizabeth received her initial hearing loss diagnosis, she underwent testing for all seven of the most common types of hearing loss, and each test came back negative. Unsatisfied with the results, her doctor began to push for genetic testing.
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The Myerses initially declined the testing, not wanting to put their daughter through more unnecessary poking and prodding. It was only after her doctor kept pushing that they finally agreed and received Elizabeth’s diagnosis. Christine says it was almost one of their family’s “biggest mistakes,” and now they want to use their story to encourage others to get tested.
As much as we might hate the idea of our kids undergoing painful or expensive tests, genetic testing really does make a difference. According to the Genetic Disease Foundation, there are about 6,000 different genetic disorders that can be passed down from parents to their kids. About 40 of them are included in genetic testing at birth or soon after, but others, like Myers’ condition, can’t be detected until much, much later.
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The University of Kansas Medical Center reports that genetic anomalies are present in 3 to 5 percent of all births in the U.S., and over 11 percent of all pediatric hospitalizations are for kids with genetic disorders. These diseases may be rare, but they still affect a large number of kids, and that’s what makes testing for them so important.
While it’s not always possible to cure genetic disorders, early detection can give people a better quality of life and in some cases can even mean the difference between life and death. For the Myers family, it enabled them to show their daughter the wonder and beauty of the world while there’s still time for her to enjoy it, a gift for which I’m sure they’re eternally grateful.
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