Rubinstein Taybi Syndrome: Receiving a Diagnosis| Cincinnati Children's

Rubinstein Taybi Syndrome: Receiving a Diagnosis | Cincinnati Children's
Bill Mann, Sophia’s parent: "I feel like when you have a child, you place certain values that you have or certain anticipations or expectations on them. And the one thing I feel like we got as kind of a gift is on day one, it all got wadded up and thrown away."
Receiving a diagnosis is never easy. Receiving a diagnosis of Rubinstein-Taybi Syndrome, a rare genetic condition affecting about one in a 125,000, is even harder. RTS is characterized by short stature, learning difficulties and distinctive facial features.
Joe and Jennifer Hans, Cooper’s parents - Joe: "First thing I thought was, 'He’s going to have a real tough life.' We didn’t know anything about Rubinstein-Taybi at the time."
Mary Jackson, Mia’s mom: "You know, looking back, we wondered how she would develop. We wondered what sort of opportunities she’d be able to have in her future. And I think she’s pretty much just exceeded everything that we could ever imagine."
Joan and Christopher Edelenbos, Emma’s parents: "You know, in the beginning, there’s a lot of medical issues. It’s very overwhelming. For us, the older Emma’s gotten, the less medical issues, and we’re able to just kind of breathe."
Cincinnati Children’s is a leader in carrying for children with RTS. We provide expert confirmation of diagnosis as well as the latest treatments and support for medical specialties ranging from pediatric gastroenterology to neurosurgery, to dental care.
Joan Edelenbos: "I think it’s very important that you’re brushing their teeth. And the younger you can do that the better. Like even with a washcloth on the gums when they don’t even have teeth, so that they know that you’re going to be in their mouth, and they know that sensation."
Susan Wiley MD, Director, Division of Developmental and Behavioral Pediatrics: "The other thing to recognize in children with RTS is that they can have varying developmental delays. So linking to early intervention systems and therapies is really helpful for families in their journey."
Jessica Froman, Jett’s mom: "We taught him so long you gotta talk, come on, say this, say this, and now you can’t get him to stop talking."
Jennifer Hans: "His middle school teacher once said of Cooper that if he was verbal he would be the kid in class that got in trouble for talking all the time. Communication has opened up a whole new world for him."
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Quinn Young: "He knows how to push buttons, but he’s also very caring and he’s really sweet. So it’s a good time."
With early intervention, an individualized education plan at school and programs available through the community, those with RTS can not only learn, grow and connect, they can reach their fullest potential.
Jennifer Hans: "You have to let your child have an opportunity to fail and try again. They’re not gonna learn if you do everything for them."
Dr. Wiley: "It’s really fun to see kid’s successes, even if they’re not on the same timeline as everybody else. To get to do a hooray that we’re potty trained or that we’ve accomplished something, it’s not really we, it’s them, but it’s fun to see that."
Celia Schloemer, Family support coordinator: "And I think it’s important to support these families in not isolating. That being part of your community is what makes everything better."
Becky Keown, Jett’s teacher: "All of my students, no matter how high and no matter how low, all of my students benefit from being with their same-age peers."
Jillian Stockberger, Rhett’s mom: "He likes to go to preschool. It’s not so much the sitting part but the interacting and the playing and all of that. He likes books. He likes routine."
Anna Kate Schmeling, Emma’s friend: "And I think that’s also important for when we hang out to tell her a week in advance 'we’re going to go do this together' so she knows that routine and it also helps us too to know what routine we have."
Jamie Jackson, Mia’s dad: "And it helps to be surrounded by other people with similar children. To be able to see people that are a little bit older, to know what those transitions are going to look like from stages in life."
Ilka Riddle, PhD, Director, University of Cincinnati Center for Excellence in Developmental Disabilities:
"And so it’s really important that you reach out and that you connect either via Facebook or finding a support group, reaching out, so that you really can develop a sense of belonging with somebody. Right? So that the children see other children that are like them."
Mann: "Connecting and understanding that you’re not alone, there’s a lot of power in that. There’s a lot of solace in that, to get to talk to someone and say, 'Oh my God, you’re going through the same things I am.'"
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