The gene on your hand. We should never apologize for telling people about genetic epilepsies, we should apologize for not telling people enough about it. At the 2024 Mardi Gras celebration of the Epilepsy Foundation of Eastern Pennsylvania, I had the honor of being given the Charley and Peggy Roach Founders’ & Eric Burton Osberg Award, also known as “Philadelphia Epilepsy Medical Professional of the Year”. I am quite sure that there must have been a data entry error or that the selection committee slipped in the line when they made this decision. Many of our epilepsy nurses, nurse practitioners, EEG techs, researchers, and physicians caring for people with epilepsy in Eastern PA would have been much more eligible for this honor than myself. However, given this unlikely opportunity, I used my moment on the stage to highlight our team and dedicate this award to Connor Maule, one of my patients who passed away from a rare genetic epilepsy in 2021. To honor Connor and epilepsy patients alike, I asked the audience to take a gene home with them – signing their hands with a gene name using a sharpie.
Mardi Gras 2024. Some impressions from the 2024 EFEPA Mardi Gras. I dedicated my award to Connor (top left), one of our patients with a UDGH-related disorder who passed away in 2021. Sarah (middle) given her speech at the event, reminding us about the necessity of supporting Camp Achieve, EFEPA’s epilepsy camp for teenagers and young adults. My grandfather’s cufflinks (top right) – the Mardi Gras event was the first time I wore them. Epilepsy genes on post-it notes, including EFHC1, a since disproven epilepsy gene that was used as a test for one of our trainees. Eventually, we transitioned to writing gene names on people’s hands. UGDH post-its and lab snapshots from the Mardi Gras photo booth.
Epilepsy Genetics 2024. Referring to spycraft, tuxedos, and Mardis Gras may feel like an unusual angle to talk about epilepsy genetics. When we started our blog more than 15 years ago, we were unsure whether something as serious as genetic epilepsies could be adequately addressed in a forum like this, using the casual and sometimes playful tone that oftentimes accompany a scientific blog. However, we have seen that the opposite is true. Genetic epilepsies need advocacy, support, and awareness at every turn of the road. We owe this to our families, and one of the most important aspects of raising awareness is momentum. For example, a State Representative went home from the Gala with STXBP1 written on her hand, using my purple-colored sharpie. And while my speech was about Connor and UGDH, more than 30 epilepsy genes made it onto the hands of the attendees of this year’s Mardi Gras. Here is what I had to say:
As you have just heard, we try to understand epilepsy genes. Therefore, I owe it to my research group and clinical team to give you an idea why we do what we do. It’s not really my award tonight, it is their award.
Without my team, I would be totally lost and couldn’t even open the door to my office. And let me officially thank them at this point that they never make me feel bad about this – well, almost never.
But I don’t want to dedicate this award to them, but to a little boy named Connor.
Connor died in 2021 at the age of 16 months after having a catastrophic epilepsy that started shortly after birth. He had a very rare genetic epilepsy that we had only just described the year before. A gene called UGDH. A disease that does not have a cure and progressed up to the point that it took Connor’s life.
Please, for a moment, replay my last two sentences in your head. You’ll of course remember Connor’s name and the fact that he had a catastrophic epilepsy. But do you remember the name of his gene?
Two and a half years ago, one of my trainees and me walked back from a long family meeting with Alyssa and Matt, Connor’s parents. I asked the same question: do you remember the gene? The answer was no, so I did something unusual. I took a sharpie and wrote the gene name on the palm of my trainee’s hand – U-G-D-H.
Everybody here tonight fights epilepsy, as an individual, as a family member, as a provider, as a researcher. But there are different ways of fighting epilepsy. And what WE do happens behind the scenes.
You can say that we work far behind enemy lines, practicing spycraft trying to look into the organizational structure of epilepsy. Trying to get into epilepsy’s head and understand it inside out. What we do is indirect, hunting down causative genes, often decades before we can treat them.
I frequently tell our trainees that I think of epilepsy genes as personalities that we need to fully understand, so we can outmaneuver them. For some epilepsies this has already paid off enormously, dramatically changing the lives of children with epilepsy affected by these genes. And in the next few years, you will see how we use our knowledge to outflank many of the more than 200 rare epilepsies in young children caused by genes. We hope to master each gene one by one, and to make an improvement in the lives of children like Connor.
I would like to finish by saying that I brought this sharpie with me that I used two and a half years ago …and that I am planning to use this liberally tonight. Hand a piece of paper or your Mardi Gras mask when you talk to me and I’ll sign it with a gene name. And I’ll ask you to take it home with you and read up on it, google it, try to see what you can find out about it – this is your chance to be the spy you secretly always wanted to be!
I really want to point out how important research is for understanding epilepsy and that we are only one of the more than 50 research groups in the Philadelphia area involved in epilepsy research. I feel very humbled to be given this award and wanted to thank the EFEPA and you all again.
Oh, and by the way, we equipped our team with sharpies, as well. Please take a gene name home tonight and have a great Mardi Gras!
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
