The Short of It
Ohio parents Melissa and Mark Jones always dreamed of having a big family, and with six kids, they got their wish. Sadly, their four youngest children suffer from a rare genetic disease.
Andrew, 17; Christina, 16; Ryan, 15; and Ashley, 13, all have Angelman Syndrome, a complex genetic disorder that primarily affects the nervous system and causes developmental delays, severe speech impairment, and problems with movement and balance. Individuals with Angelman syndrome require lifelong care.
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Melissa says that when the couple had their youngest daughter Ashley, they hadn't yet realized any of the kids had Angelman Syndrome—which usually becomes apparent between 1 and 4 years of age—because each child had other medical complications that weren't related to his or her genetic disease.
"A lot of people ask why we had so many [kids]," Melissa told Fox News. "People were telling us we're crazy, but there were other little issues sidetracking us, and we weren't thinking about the developmental part—we were thinking about the physical problems."
But as her children showed increasing developmental delays and myriad other issues, doctors dismissed their symptoms as something that would improve later, and Melissa grew increasingly frustrated. After doing some research, she suspected Angelman's, but the doctors she saw dismissed that, too.
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Melissa eventually turned to Dr. Mark Scher, division chief of pediatric neurology at University Hospitals Rainbow Babies and Children's Hospital in Cleveland, who's been caring for the family ever since. But had he met them earlier, he said he would've focused on genetic testing from the get-go.
"All of them have a [certain] facial appearance, and I would've sent them off to test on their first visit," Scher told Fox News.
"When I found out it was Angelman Syndrome, it was just kind of the light bulb went on and you go, 'Oh, that's why!'" Melissa told WKBN 27. She says she got a defective UBE3A gene from her father, which meant she had a 50-50 chance of passing it on to her kids. "It was an answer as to why they're being this way, but at the same time, we got to know and love them immensely and unconditionally. If I was told when I was pregnant, I can't even imagine.... I don't know how I would react."
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Angelman's Syndrome has no known cure. Which means the Joneses have a long, hard road ahead. But they've joined online support groups to meet other parents, and Melissa says her "Angels" have brought the family so much joy.
"My Angels will love you no matter what," she says. "If you come visit, they'll greet you like a celebrity, the best person they've seen all day."