Advice for KCNQ2 Parents: Steer a Middle Course

394555_4455083059183_529395712_nMy brother and his wife received some simple but powerful advice early on in their journey with Jack: “You need to avoid the high highs and the low lows,” one of Jack’s doctors told them. “Steer a middle course, and keep it steady.”

It’s easier said than done, of course, to maintain emotional equilibrium when you often don’t know which way is up. But I do think it is important and useful to think of that middle way, where a setback does not have to spell doom and a milestone achieved does not necessarily prove a miracle.

I revisit this advice a lot these days, for good reason. Many exciting developments are occurring for our fledgling KCNQ2 community: research is surging forward, the controversial cannabis-derivative therapies (from Charlotte’s Web to Epidiolex) are generating tantalizing anecdotes of relief and improvement (not to mention a ton of press that serves to increase public awareness of pediatric epilepsies), and our friend Scotty Sims’ Facebook page for KCNQ2 is welcoming new parents seemingly every day, who come together in that digital support group to share their stories, compare notes, and grow our database. Amidst this influx of new developments in the fight against KCNQ2-related epilepsy, it is perhaps wise to remember the importance of moderating expectations.

If you are a parent new to this diagnosis, especially if your child is very young, the amount of advice and information available now to you might seem overwhelming. By reading about a “miracle” marijuana cure or about the struggles of one or several older children on Facebook, you might be tempted to jump to all sorts of conclusions—positive or negative—about your child’s prognosis. But take one day at a time. Steer a middle course.

And if you are a parent whose child is a veteran KCNQ2 warrior, you can’t help but notice how different the situation is now.  A short time ago—not 24 months—we lived in the digital equivalent of radio silence about KCNQ2. Now there are multiple channels alive with conversation. Besides this website, our cause has a robust Facebook page and is on the news in Chicago, Houston, Denver, and other cities. It’s in newspapers—including this story about a boy named Eric with KCNQ2 encephalopathy we read about just yesterday, all the way from Ireland. You can learn about one family’s journey with KCNQ2 in Sara James Butcher’s new book An American in Oz and, in a more focused way, in the 30-minute documentary called A Place for Us run on Australian television. And perhaps most promising, my Google Alert that is set for KCNQ2 emails me multiple times a week about new research being published about this gene.

So steer a middle course, and know that the wind is blowing hard. We’re moving forward at quite a clip.








Why Walk? Top 5 Reasons to Do Your Local Epilepsy Foundation Walk

Why Walk?

Jack’s Army at our first Epilepsy Walk in Wheaton, IL, May, 2009.

Nearly 5000 people gathered on the National Mall in Washington on Saturday, March 22, for the 8th National Walk for Epilepsy. According to their website, the event raised more than $900 K for research.

The money is important of course. Very important. The fact that one in 26 Americans will develop epilepsy at some point in their lives should mean that epilepsy research receives tons of grant money, but it doesn’t. Cure Epilepsy reports that “epilepsy affects more people than multiple sclerosis, cerebral palsy, muscular dystrophy and Parkinson’s combined – yet receives fewer federal dollars per patient than each of these.” Epilepsy research is woefully underfunded.

But why walk? The first time I registered to participate in my local Epilepsy Foundation chapter’s Wheaton, Illinois, event, I did it for my new nephew Jack. But I’ll be honest: I wondered what the heck I was doing it for. Besides the money, I mean, which was obviously a good thing.

It was 2009, and Jack was a little more than 2 months old. We had no diagnosis beyond “some kind of epilepsy” yet—KCNQ2 was nowhere on our horizon—and I remember Mike and Liz had to scramble to get a group together and have some t-shirts printed. The registration forms wanted a name for our group, and that’s when Mike and Liz first wrote in “Jack’s Army.”

These were still our weepy days, when the overwhelming weight of Jack’s poorly understood but clearly serious condition was just beginning to settle heavily on our shoulders, and we were all learning how to bear up under it. The pain of his lengthy hospitalizations and batteries of tests was still raw and frightening. A walk in the park seemed more than a little ironic to me.

But the day for the walk arrived and we all donned our camouflage t-shirts and assembled around Jack’s stroller. Between family and friends, there were quite a few of us, dozens and dozens. Suddenly we were a physical army of friends and family, and I understood then why we were doing it.

Here are 5 reasons why you should walk, too:

1. Moving is better than standing still. Especially in the early days of a diagnosis, getting out of your routine and walking converts nervous or sad energy into positive energy. It is an easy way to take a step forward, literally.

2. Epilepsy can feel isolating.  But participating in a Walk is bright proof that your child is not alone. You will be surrounded by a rainbow of t-shirts— inspired groups of people rallying around each other and making connections.

3.  Epilepsy is a family affair. The people who love you and your child with epilepsy are affected by it too, and they want to do something. This is a great opportunity for all generations to get involved. It’s a fun way to help siblings take an active role, too. My kids were so proud to take turns pushing their cousin Jack in his stroller.

4. Represent! Besides the goal of raising money, the walk raises awareness of the different faces of epilepsy. If your child has an uncommon one like KCNQ2 epilepsy, this s great opportunity to educate others. Join your child’s story to the many others that are out there.

5. Grow the numbers. The number of dollars to support research, the number of people who turn out to show their support. Epilepsy Foundation walks all over the country are building a proactive community working together to find a cure, and we need you!

Wednesday, March 26 is Purple Day to raise awareness of epilepsy. It’s a perfect  time to register for your local epilepsy walk. You can find yours on the Epilepsy Foundation website. A special shout to our friends in Chicago, Houston, and Denver.   Take a walk!



KCNQ2 Report from Houston: The Cooper Lab

In the Cooper Lab (L-R, front row) Mike and Liz Pribaz, Sara James Butcher, Scotty Sims, Gina Vozenilek; (back row) Brian Baird, Jim Johnson, Eric Pierce

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.


Harper and the friendly sound guy

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, 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.

OLYMPUS DIGITAL CAMERAWhile 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

The Cooper Lab Dream Team (L-R): Mingxuan Xu, Nishtha Joshi, Li Li, Zhigang Ji, Ed Cooper, Baouyen Tran, and Angel Lopez (not pictured)

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.

OLYMPUS DIGITAL CAMERAThen 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

Zhigang Yi shares his findings and outlines his next steps
(L-R) Baouyen, Angel, Nishtha, and Migxuan are eager to present their work
Brian can feel his brain growing while listening to Dr. Cooper
Laura, Scotty, and Liz notice familiar mutation numbers on a diagram. This stuff is starting to make some sense!
Our tour included a peek at some cells with the KCNQ2 defect.
Sara, Mike, and Liz stop for a picture


We enjoyed the fresh air and walk to lunch on the Baylor Medical campus
Impressive waterfall feature!
Touring the lab
Harper and Dr. Cooper. This is what it’s all about: helping the kids

The Power of Parents Connecting

The Jack Pribaz Foundation Board and guests. Front row, L-R: Eric Pierce, Mike Pribaz, Ed Cooper, Brian Baird; women in the middle, L-R: Liz Pribaz, Laura Javech, Gina Pribaz Vozenilek, Sara James Butcher, Scotty Sims; Last row, L-R, John Vozenilek, Jim Johnson

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.

We learned that last year around this time there were still only a handful of cases known. Dr. Ed Cooper reports that now there are 90 published cases of KCNQ2 encephalopathy.


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:

Jim Johnson, Scotty Sims, Sara James Butcher, Liz Pribaz

“…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 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.”

Sara James Butcher shares her daughter Jacqui’s story

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.

To do that, we will all travel to Houston, Texas, to visit Dr. Cooper’s laboratory and his team at Baylor. We are all eager to learn everything we can. Stay tuned for our Texas report!













Celebrate Jack’s birthday at the Village Tavern and Grill

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!

mike and jack at tavern


Jack and Matt 5bday croppedIt’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!




The 5 best things we heard at the Heroes Night Gala

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

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.