is the Medical Outreach Director at the Human Development Institute of University of Kentucky.
What motivated you to become such an active advocate for individuals with developmental disabilities?
When my son was born with Down syndrome 21 years ago, I received thoughtful and comprehensive support immediately, which helped me access service and supports. When I learned that other parents were having more difficult diagnosis experiences, I was motivated to help them receive the same level of support and information that empowered us. I want to help make sure no one feels alone on that journey. I also want to help ensure that families receive accurate, up-to-date and balanced information about genetic conditions because outcomes truly have changed dramatically for people with disabilities over the past 50 years.
As you know, 31 years ago the Americans with Disabilities Act (ADA) became law. What has the ADA meant for you, your family and others with disabilities? How has it helped? What additional work could be done to improve its impact?
It’s still mindboggling to me that people with disabilities did not have civil rights legislation until 1990. On an individual level, the ADA has specifically enabled my son to get access to employment supports and to use accessible features on his phone, which allow him to communicate with friends. However, I think the greatest achievement of the ADA is the recognition that people with disabilities belong to a historically marginalized population and deserve to be included in their communities like anyone else. Even though people have the legal standing to assert their rights, I believe that we now need cultural competency training about disabilities disseminated among the broader population to convey why inclusion is important.
You have collaborated with many health professionals, including genetic counselors, to improve parents’ experiences receiving a prenatal or postnatal diagnosis of a genetic condition. What are some of the lessons you have learned from these collaborations?
I’ve always believed that medical professionals want to help parents have the best possible diagnosis experience, and genetic counselors are some of the most thoughtful, sensitive professionals in the field. However, sometimes professionals need training and resources to know how to discuss disabilities, particularly in a society where many people have unconscious bias about disabilities. I’ve found that the very best medical professionals I’ve worked with—and who have become some of my dearest friends as we’ve published, presented, and collaborated together on training and projects—take the time to genuinely listen and immerse themselves in the communities they serve and are collaborative. When working together, you have to come from a place of mutual respect and consideration and unify around the goal of serving patients and communities.
What can genetic counselors and other health professionals do better to support families?
When receiving a diagnosis, families do want to understand the medical issues associated with conditions and treatment options, but they also want to know what life is like and where to turn for support. Families want to know the medical issues and life outcome information and available supports, services and advocacy organizations. For many families, the moment of diagnosis can be traumatic—not because of the diagnosis itself but because they feel isolated and uninformed or receive the news with an overly negative bias. The best way to prevent that is to discuss the diagnosis neutrally, without presuming a disability diagnosis is bad news, and sharing accurate, balanced and up-to-date resources right away.
ABGC Spotlight is a monthly series that features Diplomates, health care professionals
and students sharing their unique experiences with genetic counseling.