Birdie. Last year at the Love for Liam golf outing, I accidentally scored a birdie. I say accidentally because my golfing abilities remain mostly hypothetical, and my usual contribution to the team is better measured in persistence than athletic excellence. A birdie, at least in my case, is an anomaly that is rare enough to remember – and our ENGIN team keeps reminding me of this. However, over the last few months, I have found myself describing our epilepsy genetics program in similar terms. Not as an accident, but as a historical anomaly. A program like ours, with sixteen attendings, two nurse practitioners, seven genetic counselors, three genetic counseling assistants, a dedicated administrative structure, and multiple connected research labs is not something that naturally happens. We have now seen more than 7,000 patients and made more than 1,000 genetic diagnoses. The question I have been thinking about recently is not how a program like this was built, but how it can continue. I know that this blog post has two separate threads that only come together later, but please hang in there. Continue reading
Tag Archives: ENGIN
Five principles for teaching epilepsy genetics
Transition. When our epilepsy genetics program was formally approved in 2019, my former division chief asked me what I was most excited about. I spontaneously replied that we finally got a fellowship and training program. This year marks the fifth anniversary of our epilepsy genetics fellowship, and I am stepping down in my role as the inaugural fellowship director. I wanted to mark this transition by pointing out five principles for teaching epilepsy genetics that have become relevant in the last few years. Spoiler alert: they are not what you think they are.
Love For Liam and the true driving force in epilepsy genetics
Fundraiser. Last Friday, our epilepsy genetics team participated in the Annual Love for Liam fundraiser, which was a golf tournament at the Northhampton Country Club, in Richboro, Pennsylvania. The Love For Liam Foundation was initiated by Heather and Kyle Johnson in memory of their baby boy, Liam, who passed away from a likely genetic epileptic encephalopathy. During the fundraiser, Heather gave one of the most passionate and powerful speeches in support of epilepsy genetics that I have ever heard. I had carried around a sense of “bittersweetness” all day that I had a hard time putting into words. And after Heather’s speech, it clicked: maybe we got it all wrong, maybe we should think about the real driving force in epilepsy genetics slightly differently.