This story originally ran in the Summer 2015 issue of Arcadia magazine.
Samantha Everhart ’12M watched as the 13-year-old girl with Down syndrome clinked miniature tea cups in her suburban home outside Philadelphia. Simultaneously, a gastrostomy tube whirred, connecting the teenager to a feeding machine—a stark juxtaposition of normal childhood with the domestic realities of living with a genetic disorder.
“She just continued to have a tea party while she was eating,” reflected Everhart, now a pediatric genetic counselor at Cooper University Hospital in Camden, N.J. “As a genetic counseling student, this experience painted a picture for me that, even though life with a neurodevelopmental disorder is complex and it’s not easy, it doesn’t have to be all bad. I walked away with a whole new perspective.”
This home visit in 2011 was part of Everhart’s year-long fellowship with the Leadership Education in Neurodevelopmental Disabilities (LEND) program at the Children’s Hospital of Philadelphia (CHOP). Each year, a genetic counseling fellow is selected from Arcadia University to be part of an interdisciplinary team at CHOP, including various medical professionals, family members, researchers, and advocacy group members, with the goal of learning more about neurodevelopmental disorders, many of which have genetic predispositions or causes, such as autism and Down syndrome. The program, supported by a grant from the federal Maternal and Child Health Bureau, aims to provide fellows with the skills and insight to make them thought leaders in the management of these complex, lifelong disorders.
LEND really added to my knowledge base with new perspectives.
- Kathleen January '15
“The program really aligns with the Arcadia experience,” said Kathleen Valverde, M.S., C.G.C, director of Arcadia’s Genetic Counseling program. “It’s meant to give students new perspectives, equip them to engage in new situations, and bridge the classroom with their professional roles.”
The LEND curriculum consists of five main components: coursework, a research project, an advocacy project, a family experience, and a series of roundtable discussions called case conferences to gain exposure to what each professional—and family member—can bring to bear on neurodevelopmental disorders.
For instance, current LEND Fellow Kathleen January ’15M gained insight into the experiences of those diagnosed with Williams syndrome, a genetic disorder where approximately 26 genes are deleted from chromosome 7. During one of the interdisciplinary case conferences, the LEND audiology fellow presented on the types of hearing difficulties that can be associated with Williams syndrome, since they often have extraordinarily sensitive ears. With this sensitivity often comes the ability to hear perfect pitch, a strength in music, and speech issues early in life.
“I knew how to perform a genetic test to diagnose it, but I was left wondering, what comes next,” said January, who started the fellowship in July. “That’s where LEND really added to my knowledge base with new perspectives.”
From theory to practice
Everhart’s experience with the teenager’s tea party also was perspective-shifting because it brought to life statistics in her textbooks. The family she visited had two children with Down syndrome, which happens in less than one percent of cases. Often times, families with one child diagnosed with Down syndrome are told they have about a one percent risk of having another with the disorder.
“We talk about it a lot in a theoretical way,” said Everhart about her genetic counseling education. “This made it real to me. It’s not just something in a book—that one percent does happen. I think that has really helped me feel more prepared to speak to families who are learning for the first time that their child isn’t going to learn like other children or their child may have multiple health problems. I can empower them to understand what they can do to help their children be the best they can be.”
The pursuit of care and resources necessary to help their children, however, can quickly mount for families. One particular instance stood out in the memory of Erica Schindewolf ’14, the third Arcadia LEND fellow. Every six months, a family she knew through LEND saw 21 different specialists to help address their children’s life-limiting, serious condition. The condition caused the children to be hyperactive, making waiting rooms difficult, and the lack of coordination between doctors made conversations daunting and repetitive. On top of that, each visit included a two-hour car trip.
“I remember thinking, ‘To me, that just doesn’t make any sense,’” said Schindewolf, now a pediatric genetic counselor at the University of Virginia.
So, she used her LEND research component as a springboard for proposing a solution: bringing together all 21 specialists for a coordinated conversation every five months. The various clinicians would discuss the plan, decide how to move forward, and outline what to do to all be on the same page. While CHOP continues to work toward this effort, the hope is that it would result in the need for fewer visits and significantly ease families’ burdens.
“At first I thought this was just going to be something I was passionate about, but then some administrators at CHOP heard about my research into patient experiences and have begun trying to implement it with the right population,” said Schindewolf, who hopes to someday open a multidisciplinary clinic that draws on the strengths of the LEND program to provide integrated care for patients with genetic disorders. “It really came down to listening to the patients and giving them the complex care they need without unnecessary complexities.”
Empowering the vulnerable
Similarly, Everhart sought to shift health care practices back toward the patient with her LEND advocacy project, in which she worked to educate homeless women and children about the importance of family history taking. In an effort to bridge the trust gap between this population and medical providers, she gave presentations in homeless shelters and encouraged them to tell her their stories.
“I wanted to help them to have their histories and questions written down before they go to a medical provider because not all of them will give patients enough space to tell their stories,” Everhart said. “While building rapport is important in the field of genetic counseling, many doctors don’t value that. By having everything ready, they can be more active participants in their own health care.”
LEND taught me how I can play a role in empowering families.
- Samantha Everhart '12M
The way that Everhart was able to capture the attention of the women and children in homeless shelters and turn a period of intense difficulty into an opportunity to focus on the future remains with Livija Medne, M.S., LCGC, senior genetic counselor and co-director of the Individualized Medical Genetics Center at CHOP. Facilitating opportunities to build the skills necessary to engage with the community and patients around neurodevelopmental disorders distinguishes the LEND program from other comparable clinical fellowships.
“While learning from physical therapists, audiologists, and others is a crucial part of the LEND program, the truly unique part of this experience is what falls outside the typical medical experience,” said Medne, who also serves as LEND’s genetic counseling discipline director. “They get to see what it is like to live in the community with a neurodevelopmental disorder, and they get to see how policy gets shaped.”
These experiences beyond the classroom have not only encouraged the fellows to network more frequently with other medical providers and community advocates to help steer patients to important resources, but it also has prepared them for some of the difficulties of being a practicing genetic counselor, including the sweeping range in patient populations and the real-world emotional turmoil that can accompany diagnoses and treatment.
“Being able to help them navigate through that experience with medical and community resources is special,” reflected Everhart. “LEND taught me how I can play a role in empowering families.”
While funding only allows a single LEND fellow to be selected each year, LEND faculty members provide four lectures to all genetic counseling students at Arcadia, allowing the entire class to benefit from their expertise in neurodevelopmental disorders. For more on Arcadia’s Genetic Counseling program, visit arcadia.edu/genetic-counseling.