Offering Community Care and Emotional Care to Rare Disease Families
How Dr. Susan Waisbren is changing the way we look at community support and quality of life.
By Gina DeMillo Wagner
The best way to understand how rare disease impacts patients and families is to listen. Dr. Susan Waisbren has seen this firsthand. She is a clinical psychologist who served the Metabolism and Genetics Clinics at Boston Children’s Hospital for over 40 years. She is also a professor of pediatrics at Harvard Medical School. Her clinical work included neuropsychological evaluations in children with metabolic and other genetic disorders and counseling of families after an abnormal newborn screening result. Everything she did began with sitting down and listening to a family’s experience. Now semi-retired, she continues to mentor younger psychologists and genetics fellows and consults to pharmaceutical companies regarding the best ways to document neuropsychological benefits/limitations of novel treatments for metabolic disorders.
There’s a lot of ways to live a life
When she started her position at Boston Children’s Hospital, Dr. Waisbren quickly realized her favorite part of the job was spending time with the families and observing all the unique and creative ways patients and their families manage the challenges that come with a genetic condition. “My favorite part about my job has always been seeing how amazing families can be. Not many psychologists get to see so many types of people and types of families,” Dr. Waisbren notes. The extended exposure to families has given her a gift. “There’s a lot of ways to live a life,” she’s observed. This wisdom from her work has spilled over into areas of her own life and become a sort of mantra, she says.
Early Inspiration
Dr. Waisbren’s desire to help people with rare disease began at a young age. In high school, she worked as a lifeguard and taught swimming to children with Down Syndrome. Later, while an undergraduate at Yale, she volunteered as a “big sister” to people with intellectual disabilities. “This was 1969, and they had just started to de-institutionalize people with intellectual disabilities,” she recalls. Through that work, she connected with Dr. Seymour Sarason of the Yale Psycho-Educational Clinic and the New Haven Regional Center. He introduced her to Burton Blatt, who wrote Christmas in Purgatory, a photographic essay that raised awareness about the mistreatment of intellectually disabled people in the US during the 1960s.
Dr. Waisbren thought a lot about the young woman she mentored as a “big sister” and saw a need for halfway houses to bridge the gap between institutions and independent living. When she presented the idea to Dr. Sarason, he encouraged her to open one. Together with her best friend Francie Brody, Dr. Waisbren secured a grant from Yale and was able to open Marrakech Inc., the first halfway house in Connecticut. It grew from housing 8 young women with intellectual disabilities in 1971 to a multi-service community program serving more than 1,000 individuals each year.
The importance of community care and emotional care
As a Ph.D. student, Dr. Waisbren wrote her dissertation on parents’ responses after the birth of a child who may have a developmental disability. “What I found in my interviews for my dissertation is that there was a big emotional element for families that needed to be addressed,” she says.
Throughout her studies, Dr. Waisbren focused on community psychology and the importance of social support. She traveled to places like Denmark, where integration and support are prioritized for citizens with physical and mental disabilities. “They were already way ahead of us in the US in terms of not institutionalizing people and recognizing the emotional impact of caring for a child or adult with atypical needs.”
In her time at Boston Children’s Hospital, Dr. Waisbren was able to give families emotional support to help them to thrive in the wake of receiving a difficult diagnosis. “I would sit with them often and just talk or listen,” she says. And then, she would follow the kids, many into adulthood and track their progress and wellbeing. “I followed them throughout their lives. I still am in contact with many of them.”
Expanding definitions for quality of life
One area of research that Dr. Waisbren is most excited about is looking closer at functional outcomes and improved measurements for “quality of life.” Historically, the term “quality of life” has been vague or defined too narrowly. “How do you measure subtle changes that have a huge impact on everyday life?” Dr. Waisbren wondered.
It’s not just about whether someone can perform everyday tasks. It includes things like dietary restrictions and what foods they can enjoy. But it’s also about agency and language. For example, one area Dr. Waisbren is studying is speech and language in individuals with phenylketonuria (PKU). Drawing inspiration from tools used to diagnose Alzheimer’s disease, Dr. Waisbren collaborates with scientists using machine learning to examine verbal discourse, or language of everyday use. The ability to communicate can influence relationships, success at work and progress in academics. Her research aims to demonstrate that aspects of language relate to biochemical benefits of novel treatments as well as quality of life.
Advice for families considering studies
When we asked Dr. Waisbren what she wished more families knew, she replied: “Treatments have advanced enormously in the past ten years, especially when you compare that to the previous thirty years,” she says. Yet, it’s important to remember that treatments can’t advance without patients participating in clinical studies.
It’s crucial to reach a broad range of patients as well, she notes. It’s understandable that patients might feel nervous to enroll in a trial, but remember, “in order for a trial to even begin, the treatment has already gone through a rigorous approval process,” she explains. By the time it reaches the stage where patients can enroll, researchers have already proven to the FDA that the treatment is safe. And once enrolled in a trial, patients are in control and can leave at any time. In her experience, Dr. Waisbren says that nearly 100 percent of study participants are glad that they enrolled. “Many say that even when there is no direct benefit, they learned something new about themselves,” she adds.
To learn more about Dr. Waisbren and her current research, click here.
To access community support, clinical studies, and other valuable resources for rare disease, visit the Know Rare Community Platform.
