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.
Figure 1. The image is borrowed from my 2023 Love for Liam post and serves as a stand-in for this year’s outing. This year, between trying to reproduce last year’s accidental birdie and spending most of the day looking for my golf ball, I forgot to take any pictures. The historical record, like golf, remains incomplete. Some days are documented carefully. Others survive mostly as memory, scorecards, and the vague impression that the ball landed somewhere near the fairway.
Historical anomaly. In conversations with colleagues, I have started describing ENGIN as a historical anomaly. Not because it should not exist, but because the conditions for it to happen in the first place were unusual. Large-scale epilepsy genetics requires rare disease clinicians who know the field, nurse practitioners who help extend and stabilize care, genetic counselors who guide families through increasingly complex testing, and genetic counseling assistants who keep the machinery moving. It also needs an administrative team to absorb the friction of authorizations and logistics, and associated research groups to help understand mechanisms and phenotypic landscapes. In many places, pieces of this structure exist, but bringing these pieces together into a sustained system remains uncommon. In addition, ENGIN has one of the longest-running epilepsy genetics fellowship programs, which was built to train the next generation of clinicians and researchers in our field.
Discoveries. I remember patients early during residency who had severe epilepsy and neurodevelopmental conditions that remained unexplained despite extensive workup. At the time, their conditions did not yet have names. Years later, long after I had first met them, genes such as DNM1 and PMPCB emerged as explanations for some of these disorders. The diagnoses did not happen in real time but happened much later. The first visible part of epilepsy genetics is making the diagnosis, but for a large-scale clinical program, it requires an entire infrastructure for counseling, navigation insurances, phenotype refinement, coordinating care, and translational research as our work on real world data analysis. This structure is labor-intensive, which needs to be supported somehow.
Love. The Love for Liam Foundation began with the Johnson family and the memory of their son Liam, who passed away from likely genetic epileptic encephalopathy. Like many rare disease families, their story began with uncertainty and the search for answers. Over time, their story became a durable commitment to supporting epilepsy genetics. This is why the Love for Liam outing matters. I still remain an unreliable golfer, and my annual return to the course continues to expose this in a very obvious way. But over the years, I have started appreciating the shape of the day itself. It almost feels like golf creates time, and you spend a beautiful day outside. Now entering its fifth year, the Love for Liam tournament has become part of the support structure for our ENGIN program.
Economics and sustainability. There is a hidden tension in epilepsy genetics. Precision medicine changes care for our patients, but it does not automatically sustain the infrastructure needed for this work. Building an epilepsy genetics program is difficult enough. Keeping it stable over time requires continuity that traditional systems often cannot provide. Philanthropy is often described as support in the rare disease space, but that word can make it sound optional. Rare disease programs depend on continuity and philanthropy often stabilizes what would otherwise not be supported.
What you need to know. Programs like ENGIN are improbable not because they are impossible, but because they depend on an unusual alignment of factors. Over the last several years, we have seen more than 7,000 patients and made more than 1,000 genetic diagnoses. Each diagnosis reflects progress, but also the existence of a structure capable of turning that progress into care. The Johnson family and the Love for Liam Foundation are part of that structure. And in rare disease medicine, sustaining the improbable may be one of the most important forms of progress.
