Making a Difference
By Kelly Schoch, Class of 2005
My son asks me every afternoon on the way home what I did at work that day. At first I struggled with my answer, since our jobs are sometimes difficult to explain to intelligent adults! But I simply began telling him the truth. I tell him that I learned lots of new things that day; or that I talked to some children about why they have to go to the doctor a lot; or that I helped some parents understand their kids better; or that I planned a meeting for kids to get to know each other… What a great job!
I work in the pediatrics department at Duke Medical Center and coordinate the 22q11 Deletion Syndrome clinic. We see individuals of all ages with 22q11 Deletion Syndrome, as well as other general genetics patients. However, about three-fourths of my time is devoted to research of this condition. The geneticist I work with has longstanding interest in this area and she lit the fire in me during our first lunch together in August of 2008. Since about a quarter of young adults with 22q11 Deletion Syndrome develop serious mental illness, our research aims to identify “red flags” that may be present during childhood, specifically neuropsychological characteristics, brain MRI findings, or genetic profiles. Ultimately, we hope to identify a subset of children at highest risk and offer therapy to reduce the effects of debilitating mental illness. Currently we’re gearing up for our first attempt at therapy, utilizing a computer-based cognitive remediation program and social skills training. Although logistically this will be a very challenging project, we are super excited about its possibilities for success!
What I really love about my job is developing relationships with the families we see regularly through the research studies or clinic visits. I have become a resource for these families and am honored that they contact me when a need arises. At the same time, they have taught me so much about what it’s like to parent a child with 22q11 Deletion Syndrome, and the (at times) overwhelming anxiety they feel about what may lie in the future.
I am thankful to have been awarded two Kids Care Grants through Duke. We used the first grant to create a 22q11DS Resource Library, consisting of books, pamphlets, and CDs available to families for check-out. The second grant will fund a 22q11DS Family Picnic next spring, as many families have requested more avenues for meeting each other. Our NC 22q11 Support Group holds an educational/ networking conference every other year and we invite speakers to share their expertise in this field. For the upcoming meeting we also plan to have adults with 22q11DS share their experiences.
I feel so fortunate to go to work and truly feel like I’m making a difference. Although I don’t have a traditional genetic counseling job, I think we all share many of the same rewards and challenges. As Nancy and Sonja told us so many times during our training, we are part of a HELPING profession, and it feels good to be doing just that.