Meet our student volunteer – Abigayle Nafus
Where are you currently at Graduate School and what are you studying?
Kean University’s Genetic Counseling Graduate Program
What motivated you to volunteer for the NR2F1 Foundation?
I decided to volunteer with the NR2F1 foundation because I really wanted to find a way to get involved in advocacy. As a genetic counseling student, I have a lot of science background, but I wanted to enrich my experience more by meeting families and hearing their experiences in hopes to become a better provider in the future. I am extremely grateful to the NR2F1 foundation for allowing me to volunteer and I look forward to supporting the foundation and families in the future!
What project are you working on for the Foundation?
I’m supporting Foundation President Jennifer, with the worldwide patient count. If you have received an email or Facebook message asking for your childs first name, or where you live, it’s because of our project! We hope to share an accurate number of BBSOAS diagnosis and where in the world they are in the coming months.
After that I hope to get involved in Patient Registry, so you may all be hearing from me over summer!
Where and what did you study for under grad?
Bachelors in Biochemistry and Molecular Biology at Penn State
What Patient Advocacy Group requirement does your course have?
We have a summer rotation in the second half of summer where we have the opportunity to volunteer with a patient advocacy group. The goal of this rotation is to get us interacting with not only families but to understand the work that goes into supporting these families as well. Throughout the year, we have opportunities to meet with patient advocacy groups, often run by parents, to hear their stories. These rotations are not only there to help us build connections, but to really learn about the impact support networks can have on families so we can further support them in our careers.
What rotation are you on at the moment?
I am currently rotating with Capital Health Cancer clinic as an observational intern. In the first half of summer, I will be rotating with MD Anderson Cooper Cancer Center, where I will take a more involved role. By the end of the first summer rotation, the goal is to be able to run a genetic counseling session from beginning to end with minimal support.
Have you volunteered before?
In undergrad I volunteered with a women’s shelter supporting women experiencing domestic violence and sexual assault. I worked on their sexual assault response team, traveling to the hospitals, as well as with their bi-weekly support groups for women experiencing violence in the home. I also volunteered with a program called LifeLink, where adults with special needs attended college classes. I mainly worked with them in the music and dance therapy classes. I also did some research and ran some other clubs, like the Microbiology Society or Family Ambassadors, at Penn State! Currently, I am also volunteering with a company called MyGeneCounsel, where I am building visual aids for cancer patients to help them better understand the information on their genetic reports.
Can you tell us about your thesis?
I am currently in the beginning stages of my thesis requirement for my graduate program. My thesis is titled. “Navigating Health Services with Coexisting Genetic Conditions and Autism: The Impact of a Formal Autism Diagnosis on Access to Care”. The goal of my thesis is to survey parents of children with a genetic condition known to be associated with autism spectrum disorder-like symptoms. I am specifically interested in how having two diagnoses, one of a genetic condition and one of autism spectrum disorder, affects access to healthcare services, insurance coverage, and school support services versus when there is just a diagnosis of a genetic condition alone. I hope to use the information gathered from my thesis to inform practicing genetic counselors on how best to discuss dual diagnoses with families so they receive the most comprehensive care for their children.
A huge thank you to Abigayle for doing such important work for the foundation!
Carlie is the Vice President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.
