Jack’s Army Blog
For those who will be traveling to the Denver Summit in September, and also (or maybe especially) for those who will be with us in spirit, we wanted to introduce you to some of the experts who will be sharing their insights on KCNQ2-related epilepsy.
We begin this series with Dr. Sarah Weckhuysen, who was the first author on the first paper to describe KCNQ2 encephalopathy and who will be traveling the farthest to be with us!
Can you describe your background for us?
I am a neurologist/epileptologist, born and raised in little Belgium in Europe. After obtaining my Neurology degree, I worked for some years as an epileptologist in the tertiary epilepsy center Kempenhaeghe in the Netherlands. This work with often treatment resistant epilepsy patients fuelled my fascination for the underlying causes of (severe) epilepsies. In the last few years I therefore intensified my research activities at the Neurogenetics group of the University of Antwerp in Belgium, and obtained a PhD on the topic of genetics of epileptic encephalopathies. My research interests are focused on the delineation of epileptic syndromes, and the genetics of (early onset) epilepsies and febrile seizures. I’m also an active member and coordinator for the European consortium EuroEPINOMICS-RES, which focuses on the genetics of rare epilepsy syndromes.
How did you first get interested in studying epilepsy and the KCNQ2 mutation?
A:In the Neurogenetics group we have been screening the gene KCNQ2 for several years in patients with the mild familial epilepsy syndrome “Benign Familial Neonatal Seizures.” In 2004 we discovered that de novo mutations in this gene (mutations only present in the patient, not in the parents) could also be found in patients with benign neonatal seizures without a family history of epilepsy. Since then we offered this genetic test to patients with neonatal seizures coming from around Europe. One of these patients in which we confirmed a de novo KCNQ2 mutation, subsequently appeared to have a more severe disease course than expected, and her development clearly appeared to be slower than normal. We wondered whether this was related to the KCNQ2 mutation or a pure coincidence, and we decided to further investigate this question. In collaboration with Ingrid Scheffer’s group from Australia, we collected a large group of children with neonatal seizures and subsequent developmental delay, and searched for KCNQ2 mutations in this group. We indeed found a de novo KCNQ2 mutation in 10% of these children. That’s how the disease entity KCNQ2 encephalopathy was first described.
Q: What are the biggest challenges you face in your work?
A: One of the biggest challenges for me, and I believe for all people working in epilepsy genetics now, is how to take our research one step further: During recent years our possibilities to identify new genetic causes for epilepsy have increased tremendously due to technological advances. More and more children with childhood epilepsy are offered a genetic diagnosis. We now have to think how we can translate this genetic knowledge into better patient treatment. Because at the end as a clinician, I not only want to provide a diagnosis to a patient, but also a cure.
Q:What inspires or drives you as a researcher of genetic epilepsies?
A:This strongly relates to the previous question. For me studying the genetic causes of epilepsy is a way towards a better understanding of the underlying causes and mechanisms in epilepsy. This is an important issue, as one third of the patients with epilepsy have treatment-resistant seizures, and thus do not respond well to currently available anti-epileptic drugs. Understanding what causes seizures in specific groups of patients is a starting point for the development of new and more specific treatment options for these patients. Although at this moment a genetic diagnosis rarely influences treatment choices in epilepsy, I do believe this is something we should aim for in the future.
We could hear it approaching before we could actually see it.
On July 14 at Klein Creek Golf Club in Winfield, Illinois, a crowd gathered on the ninth green. We were golfers and caddies and volunteers who had been together since breakfast. We were folks just free from a long day at the office, ready to have some fun. Some of us fought traffic, like Dr. John Millichap, who hurried to join us after work at Lurie Children’s Hospital downtown, still in his suit and tie. We were some 225 friends new and old, some all the way from Denver and California and Florida and Las Vegas. And we were all focused on something together, expectantly, looking up.
If you think I’m going to say that that something was a helicopter, you are half right. Against a blue sky no one would have believed possible hours earlier, a red helicopter emerged. It hovered for dramatic effect over the tenth hole and then dropped its payload. The lucky golf ball closest to the hole won $5000; the sale of chances brought in thousands more. And when the evening was over, the Third Annual Jack’s Army Golf Outing had raised an astounding $80,000 to research KCNQ2-related epilepsy and raise awareness. This crazy success proved what we already knew: The devotion of this Foundation’s supporters runs deep.
Jack’s parents felt that support, and so did Harper’s and James’ parents, our very special guests that night, and the families of all the children far and wide who seek a cure. I know I speak for all of them when I say thank you to all who share so generously of their time, talent, and treasure. When people come together to work for a common goal, amazing things can happen.
Reflecting on the golf outing, I see the helicopter as something more. It’s a metaphor for the hope for a cure that will come. We just know it. We can hear it in the distance, coming closer, and feel it reverberate in the air around us. That’s why we stand together and look up.
A huge hip hip hooray for the Jack’s Army faithful who came out despite the stormy skies to golf yesterday. The clouds parted (literally) and we enjoyed another wonderful day together, with friends old and new, from near and far. Special heartfelt thanks to our guests of honor, Harper from Colorado, with her parents Jim and Scotty, and James from California, with his mother Caroline.
At the evening event we watched a beautiful video (thank you Lisa Miller!) that gave us a look back at how Jack’s Army started, and how it has grown. In fact, it has grown so big and far-reaching that we at The Jack Pribaz Foundation have launched a new website to provide a home for all the many groups that have sprung up to support kids like Jack and Harper and James all over the world. Come check it out at www.kcnq2.org.
Meanwhile, we’re still hard at work back home here at Jack’s Army. Stay tuned for deluxe coverage of the Third Annual Golf Outing. Photographers are in their digital darkrooms and bean counters are tallying up the wild auction action. Thank heavens for crazy golf addicts, Blackhawk fanatics, and people whose appetites are as big as their generous hearts.
Guest Blogger Jason Lent writes about why Jack’s Army matters to him and about how he made it matter last night with his ukulele at the Hard Rock Café in Las Vegas …
I met Jack’s father Mike in high school one miserable, humid day in Boca Raton, FL. We were young guns trying to make our way on the Pope John Paul II high school basketball team. It was fairly evident early on that neither of us would be pursuing a career in the NBA, but “Salt of the Earth, Won’t Play A Second” and “No Talent, Has To Play” (as our coach dubbed Mike and me, respectively) stuck with it for all four years. College sent us in different directions but the friendship endured.
I was in Hawaii when Jack was born and I remember Mike’s message that “there was a problem” in the hours after the delivery. It was a heart wrenching experience watching my best friend and his beautiful new wife grapple with the unknown. The year that unfolded was full of ups and downs and it took its toll on the family. When the opportunity arose in 2010, I ditched my job in Hawaii to follow my muse as a music writer on tour with Cowboy Junkies. My home base for the journey became Mike and Liz’s basement where two TV’s and an infamous purple blanket were all I needed to stay warm and content. It was a wonderful experience living with them and learning more about Jack’s condition. The annual Jack’s Army golf tournament inspired me to become a more serious golfer, and winning it someday will be my Masters.
Growing up in Florida, one of the first concerts Mike and I ever attended together was Jimmy Buffett at the Sunrise Musical Theater. We were instantly transformed into Parrot Heads. The mix of rum, beach bum laziness, and general disregard for taking life too seriously fit us perfectly. When I took a job working for Jimmy Buffett in Hawaii, Mike was probably even more excited than I was. Hawaii is full of talented musicians and ukulele master Jake Shimabukuro was one of my favorites. We became friends during my time working with Jimmy Buffett as Jake began touring with Jimmy and playing in his band.
Last night in Las Vegas, I had the privilege of watching Jake play the venue I now manage. As soon as Jake recognized me last night, I was greeted with a warm hug and we caught up on the missing years. I mentioned my time in Wheaton, IL, with Mike and the family. I talked about the amazing work of Jack’s Army and asked Jake if he could sign my old ukulele for a charity auction. He was eager to participate, and I put together an auction just before we opened doors for the concert. Two fans began to bid aggressively as the ukulele became a two-horse race.
After the show, I was pleased to see the winning bid was $500 from a huge Jake fan. As Jake came out after the show, he gave the winner a hug and thanked him for supporting Jack’s Army. It was the kind of night where everyone went home happy and Jack’s Army took another small step forward on the road to a cure.
Jack’s Army would like to thank Jake for his support. And to his fan who won the auction: Thanks, man! And of course, hats off to the talented Jason Lent for his creative fundraising and for this dispatch from the road.
The 5th graders at Lowell Elementary School in Wheaton, Illinois, hosted Jack’s Army on Friday, April 11, 2014. They greeted Jack Pribaz, his kid brother Matt, and parents Mike and Liz with big smiles.
The visit gave students a chance to learn a little bit about KCNQ2-related epilepsy and how, even though it is a very uncommon disorder, lessons learned from studying this condition can help researchers understand the bigger picture about epilepsy and its causes.
The kids asked many good questions, most of them on much simpler topics: “What does he eat?” “Can he talk or play?” “What is his day like?” Their curiosity about Jack as a boy shows that at the heart of any support for a cause like Jack’s Army lies compassion.
The students received magnets and t-shirts, and also learned about how through the foundation, the website, and social media, Jack’s Army has been able to help find and assist other kids around the world. They were amazed at the impact one little boy can have.
And they took that lesson to heart! The Lowell school community raised $700 for Jack’s Army!
Mike and Liz were blown away. Liz thanks Mrs. Denise Uthe for inviting them to Lowell. She says, “The 5th grade class and teachers really welcomed us with open arms and they were very determined to raise money for the foundation. They are an unbelievable group of kids and we are so happy that they picked the Jack Pribaz Foundation.”
After the visit, their teacher had the students write about their experience of meeting Jack and his family. Some of their responses are posted at their school blog. We are touched and grateful for their support.
Mike Pribaz sends out his personal thanks: “This is another wonderful example of this community stepping up to help a family in need. It is so encouraging to see such energetic and caring kids taking part in such an important cause. We could never thank the Lowell family enough for all they have done for Jack and those who share his condition around the world.”
Mike and Liz and the boys look forward to revisiting Lowell on June 10 for a school assembly. They are eager to meet all the amazing students and staff who helped make the fundraiser such a success. See you again soon, Lowell!
On Wednesday, May 14, advocates for the use of CBD oil in children with severe epilepsy will be gathering in Springfield to urge lawmakers to pass Illinois SB2636, the bill that adds epilepsy as a condition for medical marijuana use. It has already been passed by the Illinois Senate and a House subcommittee. The groundswell of support for SB2636 and similar legislation throughout the country is making headlines every day it seems. Momentum is rolling forward.
Meanwhile, a multicenter clinical trial of a cannabis-derived drug is underway in two medical centers in the US (University of California at San Francisco and New York University) with more centers slated to follow soon. Research clinicians are eager to put some hard science behind the anecdotal testimonies of the benefits of CBD oil for children with epilepsy. But in order for their results to meet the rigorous standards of peer review, researchers are studying Epidiolex, a pharmacological formulation of pure cannabidiol produced by GW Pharmaceuticals.
Dr. Maria Roberta Cilio, MD, PhD, is heading up the study that started in January at the Benioff Children’s Hospital at UCSF. Twenty-five children are enrolled in the trial there. The KCNQ2 community is obviously interested in what these studies will reveal about this emerging treatment option. Dr. Cilio was gracious enough to answer a few questions for us by email.
JA: What are your criteria for enrolling patients?
Dr. Cilio: Patients 1 year to 18 years of age, with intractable seizures resistant to gold standard anti-epileptic drugs.* The patients must have been diagnosed with a well-defined epilepsy type and seizure type(s). Epidiolex will be administered in addition to the patients’ current drug regimen.
JA: How is Epidiolex different from “CBD oil?”
Dr. Cilio: Epidiolex is pure cannabidiol (containing no psychotropic THC). It is a schedule 1, non-FDA approved drug with “orphan drug” status that we are currently trying in order to evaluate effects and side effects. Despite the media and parents’ reports about different preparations of CBD oil, there are no accurate data about short- medium- and long-term effects of these preparations. We are trying to gather data about Epidiolex that is a pharmaceutical compound containing pure CBD. For this reason, in order to clearly understand the effects of Epidiolex, patients should not be on any other cannabis-derived preparations. If a trial with Epidiolex is considered, the patient should be off any cannabis-derived product for at least two months. (Italics mine)
JA: What outcomes are you measuring: seizure control only or other effects too? I ask because parents of kids with KCNQ2-related epilepsy are obviously interested in the anecdotes about CBD oil helping kids make gains in cognitive development as well as seizure control.
Dr. Cilio: At this point we are measuring safety, tolerability, and efficacy in regards to seizure control. In regards to the anecdotal reports about children with Dravet using CBD oil and showing improvement in cognition, this needs to be confirmed with neuropsychological studies done prior to and after treatment. When a child with treatment-resistant seizures becomes seizure-free or experiences a marked decrease in seizure frequency with any medication, the first hypothesis that comes to my mind is that the gain in cognitive development is due to the seizure freedom or seizure reduction. I would call for caution at this point in stating that CBD improves cognitive function. I believe that accurate data are first needed regarding safety, tolerability, and efficacy before any conclusion is made. The great excitement in the media as well as among parents about this drug and other cannabis-derived compounds must be taken into account when outcomes from uncontrolled studies are evaluated. Randomized placebo-controlled trials of Epidiolex or other cannabis-derived compounds will help in overcoming potential biases and provide the most valuable information regarding seizure control and cognitive function improvement.
* In regards to her experience with patients with KCNQ2-related epilepsy, Dr. Cilio also notes: “In my experience, most children with KCNQ2 mutations have a low seizure frequency after the first years of life, or are seizure free. In my experience they respond well to carbamazepine. I believe that the potassium-channel opener Retigabine/Exogabine has a potential in treating KCNQ2-related epilepsy, since this drug can target the molecular disorder.”
One final note: although Dr. Cilio’s full roster of patients in this study does not include any children with KCNQ2-related epilepsy, she does not exclude the possibility that at other centers KCNQ2 kids might be enrolled if they meet the criteria. We look forward to that day, and we will be keeping you posted!
Jack’s Army marched on Wheaton, Illinois, on Saturday, April 26. The Epilepsy Foundation of Greater Chicago’s annual 5K walk/run was held in our own backyard at beautiful Cantigny Park. The weather cooperated, the sun smiled on all the walkers, and it was a great day.
For the first time Jack’s Army had a tent, which gave us the opportunity to pass out t-shirts, car magnets, and informational brochures. And, of course, it was great to get a chance to talk with people and tell them about KCNQ2-related epilepsy.
Many who stopped by were amazed at how quickly our organization has grown and how much impact we have made already. One family was eager to learn about KCNQ2 because their child had no diagnosis and had not been tested. It was great to be able to tell that family that there is now a rapid test available. Even just last year we would not have been able to offer that idea. Thanks, Dr. Cooper!
There is still much work to do to get the word out. Even within the epilepsy community in our own neighborhood, many people had not heard of Jack’s Army or KCNQ2-related epilepsy. Having a booth at this big event was a great asset to our cause.
We value the partnership between Jack’s Army and The Epilepsy Foundation of Greater Chicago. which hosted the annual fun-filled 5K run/walk. With 1200 people walking, they broke attendance records–up 25% from 2013.
Two more Chicagoland Epilepsy walks are yet to come: May 3 in Libertyville and May 10, the largest of the three, downtown at Montrose Harbor. Need more reasons or locations to participate? Click here.
Recently a hot topic popped up over at the Facebook page for KCNQ2 parents and caregivers. What do you say to questions and comments about your child who has KCNQ2-related epilepsy? How do you react to well-intended but unwanted advice such as “have you tried juicing?” How do you respond to observations that can send you into an emotional tailspin, such as “but he looks so normal?” What kind of answer do you give to the person who asks, “How’s your daughter doing?”
The parents had a lively discussion about their different responses for these kinds of questions. Approaches varied, but it was pretty much unanimous that the parent’s prerogative to respond or not respond always trumps the curiosity of the person asking.
While its true that parents and caregivers generally appreciate those who express concern for their child and want to be courteous and accommodating, sometimes the moment is not right or they just don’t have the spare energy to get into a conversation. One wise mom pointed out that being polite is not as important as preserving your sanity.
Perhaps the one question that most consistently flummoxed the parents was this: When someone inquires about the nature your child’s condition, how much of the complicated science do you try to explain? Many parents remarked that even when they did their best to give a crash course in KCNQ2 101, the reaction was often disappointing. Some people ask but don’t really want an answer, or aren’t prepared for a lengthy neurology seminar.
So here’s a handy tool for parents and caregivers to use when faced with the how-much-science question. I’m calling it the 5-Finger K-C-N-Q-2 response.
Keep it simple until you know that the person wants more detailed information. Don’t be a boring professor, trapping your audience in a lecture they didn’t realize they were signing up for. Instead, have an easy answer at the ready, such as: “Jack has a form of epilepsy caused by a genetic mutation that also affects development and muscle control.”
Check the interest level. Pause and assess whether the person is really concentrating. You might be done already. If you are, smile and thank the person for asking. Is he or she genuinely still engaged? Great! Continue with:
“No one fully understands the condition yet–it’s so new.” It doesn’t even have a proper name! This is a useful comment because it says that your child is a pioneer. He or she is not someone to feel sorry for, but someone remarkable whose case is helping to define the emerging science. The answer is honest and leaves room for people to take away a positive impression.
Question. Is the conversation still alive and kicking? You can ask, “Do you want to know more about the science?” If the answer is yes, …
“2” the website! Direct the person to www.Jacksarmy.org. If he or she is truly curious, the website will help you do the heavy lifting. You can mention the recent trip to the research lab at Baylor, and that the media has recently taken an interest in KCNQ2-related epilepsy. There are some short news clip links on the website that tell the story. For those who want to get down to neurons and potassium channels, more detailed information is available, and we plan to add to our educational resources in the coming months. People who are genuinely motivated to understand your child’s condition can help spread the word, too. Some may even want to know how they can offer financial support. The website can help with all of those interests.
In the meantime, if you are a parent of a child with KCNQ2-related epilepsy, continue to share your questions and frustrations and helpful suggestions over on the Facebook page. Having a private support group of parents who really understand is an important resource for you as you move forward.
My 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.
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!