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.

Figure 1. A photo from our Love For Liam fundraiser on May 5th, 2023. I chose this photo for this blog post as it made me think of distance and perspective. When it comes to epilepsy genetics, one way to look at our goals is not to think about what is immediately ahead of us, but of the long-term perspective. What do we need to be successful in the future? In this blog post, I came up with one solution that should have been more obvious to me in the first place. We need a team.

Spring Crunch. The Love For Liam fundraiser came at a very critical time for our team – it was a much-needed boost for us. We are feeling the exhaustion due to what I would refer to as the Spring Crunch. Each Spring, there is a confluence of various factors: catching up on the to-do list from the ongoing year, planning for the next year, and various random circumstances. This year, some of the “circumstances” are extremely positive – we’re gearing up for opening the doors of our ENDD clinic in July, and there will be much, much more on this very soon. However, despite all of these positive developments, our team feels the weight of this year’s Spring. And this is where a parent’s voice is really so important, putting the weight and meaning behind what we do that I couldn’t express.

Driving force. This brings me back to the idea about the driving force. If you hop on the internet and ask for the most important drivers in epilepsy genetics, you will find references to drug development, biomarkers, genetic testing, patient-reported outcomes, and many other factors. You will find frequent references to gene therapy and the biopharmaceutical industry, particularly in our field. It may make you feel like we are sometimes only bystanders in this rapidly evolving field where epilepsy genetics is presented as a solvable problem that depends on heroic entrepreneurship. And this is an idea that had made me uncomfortable for a while.

Community. One way to think about the driving force of epilepsy genetics is a thought experiment. What is left when all the trials fail, when even the best diagnostic machinery cannot find a diagnosis? What is left of epilepsy genetics when all the ambulances are gone? Then, there is just the family and …the team. Why didn’t I think about the team earlier? I don’t know why it took me so long to realize this, but in her speech, Heather had made references to our team – not individual physicians or counselors, but the team. The driving force behind epilepsy genetics, the foundation for all of this is the team.

Why. A team is about team dynamics, motivation, and a sense of shared purpose. A few weeks ago, I agreed to disagree with one of my collaborators and we aligned on having shared goals even though we have different values. This is NOT what a team is about – a team is about shared values and a shared sense of “why”. The word “why” also was the single word that came up when I was trying to think about my speech, trying to understand why thinking about epilepsy genetics suddenly made me feel so bittersweet and melancholic. Epilepsy precision medicine is a about growing and nurturing a dedicated epilepsy genetics team.

You, the team. Our team challenged me to think about what blog post I would write about our Annual Love For Liam fundraiser. Here is the answer: it is a blog post about you. My bittersweet feeling on the golf course reminded me of a similar feeling I had when our program started a few years ago. I felt somewhat wrong to start such a program – I rather wanted to celebrate the program’s 25th anniversary.

Hidden diseases. Having a dedicated epilepsy genetics team is not a given. Genetic epilepsies are often hidden and invisible diseases that are easy to ignore and forget about. Therefore, an epilepsy genetics team might as well not exist, it needs to be build against all odds. And when it is in place, we need all the help we can get to prevent being swept away by the larger forces that are acting within the healthcare system. Having our team is something worth preserving and fighting for – this is the renewed sense of purpose I took away from our fundraiser last week.

No matter what. Improving the lives of children with genetic epilepsies is not a short-term goal. It is about building sustainable structures that will help support our families no matter what comes our way. Clinical trials may fail, the focus of biopharmaceutical investments may shift, the novelty of new genomic testing modalities may lose their edge, review panels may not be enthusiastic about grant applications. We want to grow and nurture a team that will always be there.

Ingo Helbig is a child neurologist and epilepsy genetics researcher working at the Children’s Hospital of Philadelphia (CHOP), USA.