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Mother Seeks Treatment, Awareness For Angelman Syndrome

Individuals often misdiagnosed; Melissa Winger wants education

Will Norris is a precocious 3-year-old boy born Nov. 8, 2009.

He is a happy child with a positive demeanor, his mother reports, and he has a lovely smile.

That is one of the traits of Angelman syndrome (AS), but other traits are less agreeable, such as life-threatening seizures (if not properly treated), significant developmental delays and lack of speech, including cooing or babbling as an infant.

“When Will wasn’t hitting the usual milestones, we didn’t stop visiting doctor after doctor until finally one knew about Angelman syndrome,” his mother, Melissa Winger, said. “But that process took too long, and my heart goes out to families across the country that may right now be experiencing this same anguish.”

Angelman syndrome is a neurodevelopmental disorder similar to autism. There is no cure for the syndrome, which is genetic, but currently there are human clinical trials being run in Florida to see if minocycline, an antibiotic, will help alleviate systems.

Will was diagnosed in October 2011 with UPD Angelman syndrome. He lives with his mother and sister in Avon Lake and although he is non-verbal, he has no problem of letting you know when he is happy or sad or what he wants.

“He crawls like nobody’s business, and there isn’t a piece of furniture he is afraid to climb,” Melissa said. “His favorite shows are Sesame Street and Lazy Town and will never, ever turn down chocolate.”

Will remains non-verbal and does not walk, but luckily, he remains seizure free.

“He gets therapy speech and physical therapy,” Melissa said. “We’re hoping  he will walk at some point. He tends to more high functioning than many with the syndrome.”

Education, treatment are key

Melissa said she is looking forward to the day he runs down the street and yells for her. Whether that happens remains to be seen. Currently, there is no cure for Angelman syndrome, named after Dr. Harry Angelman, who discovered the syndrome in 1965.

Only one third of infants who exhibit developmental delays were referred to early intervention specialists, indicating that the optimal or appropriate form of healthcare is not always provided or available. Statistics are more daunting for individuals with Angelman syndrome, a frustration for Melissa.

Prior to obtaining proper diagnosis, nearly 50 percent of individuals with Angelman syndrome were incorrectly diagnosed with another disorder, sometimes more than once, according to the Angelman Syndrome Foundation. Of those individuals, more than 70 percent had to wait at least a year to receive a proper diagnosis—and during that time, individuals are not receiving the essential treatments their condition requires.

 “As a loved one of an individual with Angelman syndrome, these statistics are unacceptable—and I believe many would feel the same way I do,” Melissa said. “The agony that my family experienced on our journey to obtain the proper diagnosis for Will was, to say the least, the most challenging and heart-wrenching time of my life.”

Melissa said it’s important educate parents of children with a “general developmental delay” (as some doctors diagnose) as well as educating medical professionals who are unaware of this disorder.

“(Then) we can hopefully reduce these staggering misdiagnosis statistics. It will ensure that our children get the crucial treatments they need, as early as possible,” she said.

Feb. 15 is International Angelman Syndrome Awareness Day, and to help fund FAST (Foundation for Angelman Syndrome Therapeutics) numerous Ruby Tuesday restaurants, including the Ruby Tuesday in Sheffield Village, will donate 20 percent of proceeds on Feb. 15 to FAST if a flier (see attached) is presented. FAST assists with funding research and human clinical trials.

Amy Harris February 13, 2013 at 02:52 PM
My heart goes out to you. My oldest son (13) has Tourette Syndrome, and it took us years for someone to tell us what we already sort of knew. Just getting an answer is half the battle. Getting someone to understand, sympathize, empathize, and just have ANSWERS. We know full well that there will be no cure in his lifetime, but it has made our entire family better people. I'd love to reach out and talk to you.

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