Common symptoms of Angelman syndrome are developmental delays, speech impairment, sleep issues and mobility challenges.
Eileen Braun's 22-year-old daughter, Kaitlin, was diagnosed with Angelman syndrome when she was almost 2 years old.
"About 50 percent of people with Angelman syndrome are originally misdiagnosed with another disorder like autism or cerebral palsy. She was originally 13 months old. She was misdiagnosed. We got correct diagnosis at about 21 months," Braun said. "She has a few words, but she most uses word approximations, and she uses what we call enhanced natural gestures. So, it is a type of modified sign language."
"She does like to help out a little bit at home, and she will carry things for us. She is a great time keeper. I do have to say that she is always letting us know what time it is, whether it is time to eat ,it is time to go someplace," said Braun.
Kaitlin is no longer in school. She works two days a week at the Angelman Syndrome Foundation Office.
"She goes to a business in Naperville, and she works in their backroom. She labels all of her bags. She cuts ribbons for them. She helps unpack inventory," said Braun, who is also the executive director of the foundation.
She says there is no cure for Angelman syndrome.
"But that is what we are working on at the Angelman Syndrome Foundation, the worldwide largest founder of research to try to find treats and a cure," Braun said. "Until that happens, we are going to be helping families on a daily basis."
Kaitlin is the oldest of four children. Her sister, Kim, says they hang out together.
"We just hang around the house and watch TV together," Kim said.
As for Kaitlin's future....
"It would be difficult for Kaitlin to walk right into a group home or shelter workshops, but it's something that we will have to create for her because those models don't always exist out there for people like Kaitlin," Braun said.
Angelman syndrome affects an estimated 1 in 12, 000 to 20,000 people.
For more information go to www.angelman.org