The 5 best things we heard at the Heroes Night Gala

Jack’s Army founders Mike and Liz Pribaz got a much-needed night off from child-care duties to attend, for the first time, the annual Heroes’ Night Gala. It was hosted by the Epilepsy Foundation of Greater Chicago and held at the Museum of Science and Industry on Friday, February 21. The program concluded with a tour of the new permanent exhibit called Science Storms, a showcase of nature’s mysteries. The exhibit’s description could easily apply to epilepsy research, a fact surely not lost on the event’s organizers: “Science Storms is a journey that takes us from wonder to inquiry, curiosity to observation, investigation to understanding.”

As Mike and Liz stood in the vortex of a virtual tornado at the end of their evening, they reflected on their top 5 whirlwind gala moments:

1. Kurt Florian gave a nod to Jack’s Army in his address. The President of the Epilepsy Foundation of Greater Chicago stood before a packed house and spoke of all of the different ways that the war on epilepsy is being waged, and he specifically mentioned the “grassroots” success of Jack’s Army! What great exposure for our little foundation in a room full of epilepsy advocates, lawmakers, clinicians, and researchers.

2. We talked with the evening’s honoree, Susan Axelrod, founder of CURE, congratulating her on receiving the Distinguished Richard N. Rovner Hero Award. We chatted with her about Jack and KCNQ2 and thanked her for inspiring us as parents and as a foundation. It was a wonderful opportunity to personally express our gratitude for the CURE’s $300,000 grant to Dr. Cooper.

3. US Senator Dick Durbin announced a $200 million appropriation that he helped set aside for the Department of Defense Peer Reviewed Medical Research Program. Some of these funds will go toward the study of epilepsy and traumatic brain injury in soldiers coming back from war. 

4. Illinois Senator Dan Kotowski, whose dad we had met and talked to in the coat check line, talked about his own connection to epilepsy (through the Danny Did Foundation) and the exciting future of medicine in this fight, including medical marijuana.

5. We were moved by the story of the winners of the Hero Award for Inspirational Commitment. Jack and Manjula Pfingston lost their son Zach to sudden unexpected death in epilepsy (SUDEP) in 2009. CURE is leading the way in preventing and finding the cause of SUDEP. All proceeds from their annual golf outing go to Camp Blackhawk for kids with epilepsy. Zach loved that camp.

Heroes Night reminded Mike and Liz what a vibrant, passionate group the epilepsy community is. The gala gave them a chance to recharge their batteries, to network, and to learn. Jack’s Army thanks the Epilepsy Foundation of Greater Chicago for putting on a great event.

To top off the night, Mike and Liz met a new friend. They were seated with Gregg Rosenthal from Mt. Prospect, a man who suffered from seizures as an adult and was eventually forced to get a portion of his frontal lobe removed. Gregg was an advocate in convincing Governor Pat Quinn to declare November epilepsy month. A dedicated golfer, Gregg pledged to attend the Jack’s Army Third Annual golf outing in July.

CURE awards new epilepsy research grants

CURE awards new epilepsy research grants

In case you didn’t know it, Citizens United for Research in Epilepsy (CURE) is the nation’s largest independent, private funding agency for epilepsy research. Since CURE began in 1998, they have supported 151 projects with more than 26 million dollars. On February 13, 2014, CURE awarded six new research grants in their drive to accelerate epilepsy science and find a cure. And they report a surge in applications this year—a record 200 competitive proposals.

I find it heartening to imagine so many great minds in so many laboratories hard at work. The answer is out there somewhere. This is a good moment to reflect on what it means for Jack’s Army that just last year that our own Dr. Edward Cooper claimed a CURE prize, the “Rock the Block for Pediatric Epilepsy Research Award.”

Let’s consider some numbers.

If you click on the Cure Epilepsy web page, you see a little icon of stick figures. Below the image it says starkly “1 in 26,”  a reminder of how many Americans will develop epilepsy at some point in their lifetime. One in 26. That’s a lot of people. It’s an urgent problem.

stckexch1standoutI don’t know if more than 26 cases of KCNQ2 encephalopathy are known yet, and that’s a global count. Understandably, some might wonder why, among all the deserving research proposals that CURE could choose to fund, they would select Dr. Cooper’s, which targets such a rare form of epilepsy. But Dr. Cooper’s success in vying for coveted grant funds (which went largely into building mouse models that carry three different versions of KCNQ2 mutations) means he made a strong case for the translatability of his research.

Dr. Cooper’s research is that promising—not just for the rare group of children like Jack, but for the basic understanding it offers about the essential role potassium channels play in the function of neurons. And that knowledge potentially helps a lot more of those 1-in-26 Americans.

Read more about Dr. Cooper’s ongoing work in The Cooper Laboratory at the Baylor College of Medicine here.

A better name for KCNQ2 encephalopathy, please!

It’s a mouthful. Let’s be honest. The first burden of explaininkncn tagg “KCNQ2 encephalopathy” is merely getting that triple-letter-score Scrabble word right. In the early days when we first heard Jack’s diagnosis, I trained myself to remember K-C-N-Q-2 by converting it into a recognizable name, at least in part: “Casey NQ2.”

Because that’s what a name should be, isn’t it? Something you can recognize. It’s a first step in getting to know that intriguing new person at a cocktail party. Like a password, a name gives you access. It opens up conversations. Of course, that’s what we really want from KCNQ2 encephalopathy. We want to get to know it better.

So a few months ago board members and friends of Jack’s Army were in a discussion with Dr. Ed Cooper (there’s a name you need to know), and we brought up the nomenclature problem. “Can’t we call it something more user-friendly?” we asked.

We were Jonesing for an eponym for KCNQ2 encephalopathy, like West or Dravet or Ohtahara—names of better-known syndromes of epilepsy. A name would help us in our networking and marketing strategies as Jack’s Army tries to spread the word. It’s not so easy or attractive to jam all those consonants on a t-shirt. More importantly, there’s something about eponymous disease names that seems to connect the condition back to its human foundation. KCNQ2 encephalopathy sounds like something that belongs in a lab or a petri dish.

 What’s in a (disorder’s) name?

Dr. Cooper said that there is a “high threshold” for naming a disorder after a person these days and that the medical community is moving away from eponyms.  “A description-based name is more useful,” he said. We groaned.

The “KCN” indicates that it is one of the potassium channel genes. The “Q2” specifies it as the second member of 5 related KCNQ genes. “KCNQ2” and all official gene names are established by the HUGO Genome Project.

So the gene name is carved in stone, but what about the disorder name? It turns out that process is much more fluid. Dr. Cooper said that sometimes researchers circulate a letter to collect signatures from the principle investigators who are bringing that disorder to light, or they can get together and publish something called a nomenclature paper.

Dr. Cooper agrees that “KCNQ2 encephalopathy” (as well as “KCNQ2-related epilepsy” and “KCNQ2 deficiency,” which are also in use) is unwieldy. He and his colleague Dr. Millichap are starting to favor a shortened version: “Q2 deficiency.”  We agreed, begrudgingly, that it is something of an improvement.

But take note: when Dr. Charlotte Dravet first described the syndrome that now shares her name the year was 1978 and she called it “severe myoclonic epilepsy of infancy.” In 1989 the International League Against Epilepsy recommended the eponym.

We can only hope something similar happens for KCNQ2 encephalopathy. In the meantime, it might help to know a little bit about the meaning of the name we are, at least for the time being, stuck with.