Rubinstein-Taybi Syndrome: Growing Older with RTS
Bill Mann, Sophia’s parent: "As your child gets older and turns into an adult, and you get older, it is a very daunting thing to try to figure out what that plan is."
Joe and Jennifer Hans, Cooper’s parents - Jennifer: "He definitely I think is coming into more of an independence. We do see moodiness, sometimes, and we certainly see defiance. We kind of silently have joy with that, and we’re still tearing our hair out at the same time."
Susan Wiley MD, Director, Division of Developmental and Behavioral Pediatrics: "Children with RTS go through puberty just like other individuals do, and so that’s part of life."
Jennifer Hans: "We’re working with a behavioral therapist so that he understands that yes his body is his own and he has every right to explore it, but at the same time, he needs to be respectful of where he is and whether he’s in a private or public situation."
Mann: "I’ll admit. I was, you know, in constant fear of what do we do when she starts her period? My wife was amazing with it, and she started early on, way before Sophie started, talking to her about it, showing her when she would have her own period."
Jason Woodward, MD, MS, Assistant Professor, Pediatrics: "The first thing is to kind of understand what the family’s goals are around menstruation, what their concerns are and why."
Families may choose to limit or eliminate their child’s menstrual cycles by using birth control, such as Depo-Provera injections or contraceptive pills. If the child is immobile, their risk for bone density issues and blood clots are increased, so an IUD, intrauterine device may be best.
Dr. Woodward: "There can be some challenges there around the placement and sometimes requiring sedation to place those in some of our patients with developmental disabilities."
In addition to body changes that go along with puberty, obesity, tumors and depression are some of the medical health concerns that patients with RTS can face.
Celia Schloemer, Family support coordinator: "We can point out limitations. We can predict some healthcare things that these families may possibly run into and have an eye for those. And I think it’s important, when you’re looking out into the life course, to watch for those things and learn what they might be."
Dr. Woodward: "And provide referrals and support for families when they see those changes."
Schloemer: "Are these kids going to need support into future? We all need support into the future."
Dr. Woodward: "One of the main ways that we can help with that is by starting the discussion early about how are we going to promote that independence and what do we need to prepare for as we become an adult as we turn 18?"
Mann: "As you start looking at your person who's transitioning into adulthood, explore all those options, do some research.."
Woodward: "Options for support such as power of attorney, or conservatorship which are a little less restrictive to the individual, and there is something called supported decision making, which is the idea that you know all of us need some help with our decisions as adults."
Mann: "For us, full guardianship works. We were very fortunate because Cincinnati Children’s actually has a transition clinic, and it was literally a team of people who helped us navigate the steps into adulthood. They helped us navigate things like SSI disability, getting her on Medicaid was part of that process that just kind of surprised us. We got a letter that said hey congratulations you’re on Medicaid and we were like, oh, look at that."
Dr. Woodward: "One of the other pieces of developing a transition plan is developing a summary of your health information. A pediatrician could really help by preparing that information for the family or with the family together, ideally."
Pediatricians should also look at other transitions going on and how they affect behavior and medical needs. Referrals for education transition and employment support will also be helpful for families.
(more)
5 янв 2020
