Like most parents, Ryan and Dr. Kim Spangler of Doylestown, PA felt their hearts soar whenever their son Boden said “Mama” and “Dada” as a toddler. They couldn’t wait to hear more from their only child. Social by nature, Bo made great eye contact. He smiled and laughed a lot. In the midst of the excitement of speaking his first real words, he paid attention to the people listening. Bo wanted to be vocal, Kim said. So the Spanglers were deeply concerned and wondered how to help Bo when, a short time later, he reverted to baby talk, apparently no longer able to express language as he would have liked to.
Bo, now 3, has MECP2 duplication syndrome, a rare genetic condition that is the “brother syndrome” to Rett syndrome. It causes learning, memory and motor control deficits. Seizures and recurrent, potentially fatal respiratory infections are also common.
Motor planning issues thwarted Bo’s early attempts to speak in his own voice. Words came out rarely, and inconsistently, but usually in appropriate contexts. His parents focused on his strengths. “He could ambulate so we would say, ‘Bo, can you go do this?’ He could discriminate and follow directions,” his mom said.
Now Bo is rediscovering the power of his voice with the help of the Tobii Dynavox I-12 speech-generating device he got last year and controls through his eyes. “The strides he’s made in just the last five months are incredible,” his dad said. “He’s more open to the process of communication.” Bo’s parents love chronicling his device use on video and didn’t mind at all when he said “My family is crazy!” for the camera.
We’re excited to tell you more about Bo’s communication successes here. First let’s share a little more background:
Bo arrived in the world six weeks before his due date and after a pregnancy with complications Kim believes may have been related to developmental delays her son experienced. “We knew something was wrong, but we didn’t know exactly what it was,” she said of months spent seeking opinions from a number of specialists until a developmental pediatrician confirmed the MECP2 diagnosis. MECP2 happens because the X chromosome has double the normal amount of the MECP2 gene. The condition is relatively new. Discovered in 2005, MECP2 occurs in 1 in 10,000 births and affects mostly boys. Rett syndrome, more common in girls, is associated with a mutation of the MECP2 gene.
The news was jarring. “Our lives fundamentally changed,” Kim said.
Friends since middle school, Kim and Ryan were married with solid careers in Washington D.C. by their mid-20s. Kim studied drug design in graduate school at Georgetown University and went on to earn a Ph.D. in chemistry. Ryan worked on Capitol Hill before becoming a federal lobbyist. She was 29 and he was 30 when Bo came along. They’ve since moved back to Pennsylvania to be around family including Kim’s mom, a special education teacher. Inspired by personal experience, Ryan is on a brand new professional path, working as an educational assistant in a middle school autistic support classroom while pursuing a special education degree. Kim is a technical team lead for the U.S. Department of Defense. Since Bo’s diagnosis, they have taken on new roles in terms of fundraising for a potential cure and both serve on the board of the 401 Project: Cure MECP2 Duplication Syndrome. They are hosting Cure MECP2 Bucks County in Doylestown, PA on September 22, 2016.
As Bo’s parents, the Spanglers find that acceptance, action and love prevail. Ryan vows to live a day at a time, without worrying about things beyond their control. Kim pushes to find the resources Bo needs to lead his best life.
“While they do understand that he has limitations, they don’t limit him,” said Shirley Shapiro, a home health care nurse with Bo three days a week. She keeps him safe, administers liquids through his G-tube, and assists him with aspiration and balance issues. Mrs. Shapiro said Bo is just starting to play with the other kids at the preschool he attends, noting that his I-12 device had a part in helping him reach that milestone. “When they see that he’s able to communicate more grown-up thoughts, they understand that he’s like them.”
More people realize Bo is smart as the technology bridges his receptive and expressive language skills.
“He did well with it from the beginning,” said Caitlin Brown, M.S., CFY-SLP, an assistive technology consultant with the intermediate unit and speech-language pathologist. “The amount of vocabulary and the types of messages (he uses) have really increased. We’ve been able to unlock what he knows.” She recommended the I-12 for Bo.
Her colleague Amy Robinson, M.A., CCC-SLP, met Bo in December 2015 and has two speech therapy sessions with him each week. “Bo’s always surprising me. I see progress every time I see him,” Mrs. Robinson said. Whether they read books, race toy cars, build things, or bring out a board game, Bo chatters about the play activities, readily sharing his likes and especially his dislikes. She enjoys watching his skill and spontaneity unfold as he learns to more fully express feelings and respond to “WH” questions.
“He’s so happy he’s communicating. You can see it on his face.””
This past summer, Bo and his parents demonstrated the I-12 at the Bluebird Circle Rett Center at Baylor College of Medicine in Houston during MECP2 Duplication Syndrome Family Conference. In the spirit of paying it forward, they also gave families a little hands-on time with the technology. Parents were shocked—in a good way, Ryan said, by what their own kids were able to do within 5 minutes. The experience affirmed Kim’s confidence in the technology. “I think kids younger than Bo will be able to do this and be very, very empowered,” she said.
Photography by Stephanie Franko Ferraro