Purdue Psychological Sciences course hosts families affected by rare neurogenetic syndromes in classroom

Students in Associate Professor Bridgette Kelleher’s Psychology of Neurogenetic Syndromes course play with Solomon Prather, a 4-year-old with fragile X syndrome.(Tim Brouk)

Written by: Tim Brouk, tbrouk@purdue.edu

It was one of the most powerful “guest lectures” the Purdue University students in PSY 39200 (Psychology of Neurogenetic Syndromes) have ever heard.

Bridgette Kelleher, associate professor in the Purdue Department of Psychological Sciences, invited Kelsey Rumschlag, a 34-year-old Indianapolis woman with Williams syndrome, to discuss her experience growing up and living her young adult life with the rare genetic disorder characterized by mild to moderate intellectual or learning problems, distinctive facial features and cardiovascular problems. Accompanied by her parents, John and Denise Rumschlag, students were seen wiping tears from their eyes as the young woman spoke in front of class and discussed her trials and tribulations of getting through school, overcoming bullying, having teachers and clinicians fail her, and how bosses at jobs didn’t understand her condition.

Kelsey Rumschlag talks about her life with Williams syndrome in Bridgette Kelleher’s Psychology of Neurogenetic Syndromes class.(Tim Brouk)

But with support from her family, friends and an online community of other adults with Williams syndrome, Kelsey Rumschlag lives a meaningful and vibrant life. As students asked questions, the engaged class was learning from an actual patient with a rare syndrome they are studying.

“The vast majority of these students will say they intend to have a career interacting with folks with disabilities or rare conditions,” Kelleher said. “And then when I ask, ‘How many of you have met somebody with a rare condition?’ that number drops dramatically to way less than half of the class, and these are mostly seniors getting ready to head out the door into their next stage of training. So, I do think there’s something really different about interacting and having the opportunity to meet people in person, to see how they engage and to ask questions in an interactive way.”

Kelleher’s research revolves around rare disorders and how families can connect with health care support through virtual means. In most cases, families that have children with these rare conditions — classified as such if it affects fewer than 200,000 Americans by the National Organization of Rare Disorders — are the only ones in their community. They have little to no immediate help when it comes to their child’s unique health matters. They are often in rural areas and must drive hours for treatment. But some of these families are within driving distance to Purdue and are happy to share their stories with Kelleher’s class.

The Rumschlags have visited Kelleher’s class a few times over the years. The first time, Kelsey was just a little older than the students in the classroom. The family agreed that talking about her experience with Williams syndrome helps Kelsey connect with people.

“I think she grows from it, and the kids can grow from it, and Mom and Dad can grow from it too,” said John Rumschlag, who met Denise in their Purdue PSY 14000 (Critical Foundations for Psychology) class. “Personal growth, it’s good for all of us.”

Soon after Kelsey Rumschlag’s visit, the students were quizzed on the aspects of Williams syndrome. Kelleher has found the students’ scores are much higher after an in-person visit.

“I think students actually retain and remember experiences much more if they’re experiencing them live and in-person,” Kelleher explained. “One year, a child with Angelman syndrome was in class walking up and down the aisles and patting people on the head and visiting and really getting to know the students. I think that was a really impactful experience for a lot of them.”

‘We’re just like everyone else’

Kelsey Rumschlag was born with Wiliams syndrome in 1991. John and Denise Rumschlag remembered Kelsey’s development seemed routine for the first few months of their daughter’s life, but later check-ups revealed health concerns. A doctor at Riley Hospital for Children broke the news to Denise at a time when Google was several years away.

“I was holding Kelsey — and they didn’t even offer for me to sit down — and they said she has supravalvular stenosis,” Denise Rumschlag said. “‘Does this run in your family?’ ‘I don’t know what that is, so I don’t think so.’ ‘Well, then I’m fairly certain she has Williams syndrome.’ ‘What’s that?’ ‘I don’t really want to tell you because we don’t know for sure.’”

With her parents and older sister, Kristen, in her corner, Kelsey reinforced the importance of emotional support for someone with a rare condition.

“I think people with disabilities need to feel like they belong because a lot of times we don’t feel like we belong,” Kelsey said. “I think a big part of it is opening up to people about my experiences, and (Kelleher’s students) can learn that someone that has a disability, we’re just like everyone else. We have feelings, and we have bad days and good days. I think it’s very important for me to talk about that so they can learn and not judge people that have a disability.”

‘His future is unlimited.’

Kelleher plays with young Solomon Prather, who has fragile X syndrome, during a recent class.(Tim Brouk)

In March, Kelleher introduced Solomon Prather to her class. The blond, bespectacled and energetic 4-year-old from Fort Wayne, Indiana, was diagnosed with fragile X syndrome, a genetic disorder that causes developmental and learning issues in mostly males. Nonverbal but communicative through sign language and a customized iPad, the boy represented another rare condition. Alison Prather, Solomon’s mother, gave a presentation and showed a recent video of her on the Fort Wayne news discussing fragile X and promoting a car show she and husband Dylan Prather organized to raise awareness and funds ($10,000) for fragile X research. During her talk, Solomon played with blocks and other toys, and students interacted with him. His playful demeanor won the hearts of all 40-plus Purdue students.

The Prathers shared Solomon’s story and spoke about how early detection allowed for early treatment and therapies. Solomon was only 8 months old when he was diagnosed. Alison Prather said she knew families where their fragile X child wasn’t diagnosed until elementary school ages. While Solomon is yet to talk and didn’t start walking until age 3 due to the low muscle tone often associated with fragile X, he has experienced a high-functioning life thanks to the early support from family, friends and clinicians.

“His future is unlimited,” Alison Prather said. “There might be things that he struggles with, but there’s so much science going into it for cures and treatments. So, the more we can get out the word, the better.”

Student reactions

Kelly Paquette was one of those tearful students during Kelsey Rumschlag’s emotional talk, especially when the woman talked about her closeness with her sister. Paquette, a senior majoring in psychological sciences, has a younger brother with fragile X. Like Kelsey described her sister as being protective of her, Paquette said she was very protective of her brother, only one year younger. With the help of Paquette’s support throughout their childhood, her brother can speak now, impressing her — and everyone else — with movie quotes, often in one of four languages.

“I stood up for him a lot of the times, and I really did not like the fact that people would bully him, because to me, he was just my brother. I didn’t see anything wrong with him, where other people didn’t grow up with that experience,” Paquette remembered. “I joined this class specifically for that reason of having that experience. And it’s very impactful to me in my own life and to be almost reassured that it isn’t just me that’s struggling with this. There are other people out there who are struggling with the same things, and they have all this insightful information about their experience and what they’re doing.”

Krista Hobbib, a senior majoring in health sciences, has volunteered and worked with young people with special needs since middle school. That experience and getting to know the families that visit Kelleher’s class helped push her to pursue a career in health care. She said in-person exposure with these folks was constant inspiration.

“I think it’s super, super beneficial,” Hobbib added. “Getting that exposure and working with them in person is so much different than just hearing about them online or even via Zoom.”