Jack’s Army Blog
Narrowly dodging a late season snowstorm, members of Jack’s Army convened in sunny Houston at the Baylor College of Medicine on Thursday, March 13. The Chicago contingent (Mike and Liz Pribaz, Brian Baird, Eric Pierce, Laura Javech, and me, Mike’s sister Gina) was joined by friends Jim Johnson and Scotty Sims and their daughter Harper from Denver and Sara James Butcher from Australia by way of New York. We came for a series of presentations, conversations, and tours at Dr. Ed Cooper’s Molecular Neuropharmacology Lab, or the Cooper Lab, the hub of KCNQ2-related epilepsy research.
The gathering was billed as a “retreat day,” which sounded somewhat relaxing to us Chicagoans, who had checked into our hotel the night before at 3 AM (note to readers: if visiting Houston in March during the rodeo http://www.rodeohouston.com/, be sure to book your rooms well in advance!). Energized by curiosity and coffee, we arrived at the laboratory to meet the others in a conference room. William and Destin Sims, Scotty’s brother and sister-in-law, were there too. It was great to meet them! They made the trip to help entertain Harper, who wasted no time in entertaining all of us. She was perfectly comfortable with all the commotion, charming everyone.
After introductions we prepared to dive into a tidy agenda prepared by Dr. Cooper. But sometimes things don’t go exactly according to plan, and sometimes that’s a good thing. In this case, it was a great thing. Our orderly schedule of events went out the window as a camera crew from the NBC affiliate in Houston arrived to film the parents and researchers. You can watch the segment that aired on the Houston 4:00 news that afternoon here. Our thanks to the production crew from Click2Houston News for doing such a fantastic job and helping us get the word out about our important little corner of epilepsy research.
While the Houston news crew was interviewing the parents in the lab, Liz’s phone rang. It was NBC5’s Nesita Kwan in Chicago, calling to arrange a time to film a similar story back home. Click here to watch Nesita’s excellent story on Jack’s KCNQ2-related epilepsy that aired the next day on NBC5 Chicago.
Meet the Researchers
At lunch we had an opportunity to get to know the scientists who work in the Cooper lab. It was wonderful to have the opportunity to break bread and share ideas with such a busy and talented group of scientists. They connected with us over sandwiches and conversation about the next steps we can take together.
Two strategies in particular emerged from these discussions, which will be detailed soon. They involve a collective patient database and the development of a professional conference for researchers worldwide who are studying the KCNQ2 gene. In all instances, bringing people and ideas together is paying off for Jack’s Army.
Then it was back to the conference room to learn from each of the scientists about their current projects and findings. Lab scientists do not often present their complicated work to a lay audience like us, but it was clear that they worked hard to create understandable graphics and explanations (and nice animations!). And our blown up schedule from earlier in the day meant that they stayed well into the evening to patiently answer all of our questions. We hope to be able to share some of their educational pieces here on the website in the coming weeks.
The Cooper Lab team are so obviously invested in advancing the science and bettering the lives of children affected by this genetic epilepsy. We returned home from Houston profoundly moved by the Cooper Lab team’s dedication and are excited by their steady progress. We couldn’t agree more with a note we received from Zhigang: “Let’s fight the disease together.”
Snapshots from the Trip
You’ve probably heard stories of the crazy feats of strength that a panicked parent can perform when a child is in grave physical danger. Juiced up by adrenaline fear, and powered by love, a mother or father can do amazing things for their child.
This weekend we got a glimpse of the powerful synergy that happens when a group of these super parents joins forces. Mike and Liz Pribaz and the Board and friends of Jack’s Army welcomed Jim Johnson and Scotty Sims, parents of Harper in Colorado, Sara James, mother of Jacqueline in Melbourne, Australia, and researcher Dr. Edward Cooper from Houston. No one wore capes or tossed any automobiles, but one person remarked that it seemed like a gathering of the Justice League. You get the feeling that now that these parents have found each other, there’s not much they cannot do together.
Search, click, CONNECT
It was a fortuitous late-night Google search that located Dr. Cooper in January of 2012. Then Mike sent an email into the void, and Dr. Cooper responded within hours. That crucial connection was a game changer for the emerging KCNQ2 community. Soon Dr. Cooper and Jack’s neurologist in Chicago, Dr. John Millichap, would begin a fruitful research partnership that continues to grow.
Jim Johnson joked that in his search for information about KCNQ2 he reached the end of the Internet. Along the way, he found Jack’s Army. Saturday night he thanked all the people who generously support this grassroots organization, describing how it felt to discover that he and his wife were not alone with their daughter’s diagnosis:
“…that there was actually someone out there that we could talk to–I can’t tell you how much … that meant to us, to actually read Jack’s story and read that there was a doctor involved that actually was looking for answers, Dr. Cooper. How fortunate and just how connected, even through email and on phone calls with Mike and Liz, we felt…”
Meanwhile in Australia…
Another family across the world was searching for answers too. Sara and her husband waited eight long years before their daughter Jacqui’s diagnosis was made. How did we find her story?
That’s thanks to Scotty. Scotty uses the Internet to search for patients who have a KCNQ2 mutation whose parents may have started blogs or websites—messages in the digital bottle. She is keeping a database of patients whose parents have contacted the Foundation or her directly at her Facebook page, Harper’s Warriors KCNQ2. The more patients we can find, the more families we can help, the more cases there are to study, the more quickly we can hope for treatments…
While making her Internet surfing rounds, Scotty tried a search on Google.com.au and turned up a very interesting video. A Place For Us is a 30-min documentary that aired on Australian television and marks the first major media story to put a face, a beautiful face, on KCNQ2 epilepsy. We hope it won’t be the last.
Going the Distance
Sara traveled more than 9,000 miles from Melbourne to Wheaton, Illinois, to share with us about her journey with her daughter Jacqui and to meet Dr. Cooper. It was kind of surreal, and certainly inspirational, to trace the various paths that brought all of us together. “The world is very big,” Sara acknowledged Saturday night, “but the world is very, very small.”
As a matter of fact, at the beginning of his career, Dr. Cooper was inspired by pioneering work on genetic epilepsies done by Jacqui’s doctor in Australia, Dr. Ingrid Scheffer. She told Sara that with this trip she was heading right to the forefront of KCNQ2 research, and Sara’s been charged with bringing back a full report.
Tavern Total UPDATE:
Jack and family just want to say a great big THANK YOU for coming out to the Village Tavern and Grill on Wednesday, March 5, to celebrate Jack’s 5th birthday. A good time was had by all, and we raised a cool $315!
Thank you for your continued support!
It’s time to celebrate. Jack Wyatt Pribaz turns 5 on the 5th, a “golden birthday” if there ever was one! Join the celebration on Wednesday, March 5 at the Village Tavern and Grill , 219 S. Schmale in Carol Stream. The good folks at the Village Tavern will donate 20% of your bill to the Jack Pribaz Foundation. Be sure to bring this flyer with you:
We realize it’s Ash Wednesday, but don’t worry. You can enjoy a fish fry basket or sandwich or even fish tacos. Kiddie menu available too.
Please come out and help celebrate and support a great cause!
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
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.
I 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.
It’s a mouthful. Let’s be honest. The first burden of explaining “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.