Meet the Experts: Dr. Kristen Park

Dr. Kristen Park

Dr. Kristen Park

Dr. Kristen Park and her colleagues at Children’s Hospital of Colorado have seen a remarkable concentration of patients diagnosed with KCNQ2-related epilepsy, making Denver a perfect place to get parents and medical professionals together. The Jack Pribaz Foundation, and I’m sure the entire KCNQ2 community, is grateful to Dr. Park and the Children’s Hospital of Colorado for opening their doors and welcoming us all to the Denver Summit, which is coming up soon on September 18 and 19.

We can’t wait! To tide us over until then, we continue our Meet the Experts series with a brief introduction to the gracious Dr. Park.

Q.Can you tell us a little bit about your background?

A.I grew up in Baltimore Maryland and attended University of North Carolina for undergraduate studies – go Tarheels!  My interest in Neurology grew out of college studies in biologic Psychology.  Prior to medical school, I worked for the Epilepsy Association of Maryland and thus began my journey into this field.  I went to medical school at the Mayo Clinic, residency at Penn and the Children’s Hospital of Philadelphia (CHOP), and epilepsy fellowship at Children’s Memorial Hospital in Chicago.  I currently practice at the Children’s Hospital of Colorado where I have been for the last 6 years.

Q.How did you first get interested in studying epilepsy and the KCNQ2 mutation?

A.Epilepsy is an incredibly heterogeneous disorder with many different causes and manifestations making it interesting to study.  It also means that there is no single answer to all the problems and questions such that many minds are needed for research.  In children, genetics is playing a bigger and bigger part of our understanding of epilepsy.  I have started to work in our Neurogenetics clinic trying to diagnose children with severe and complex neurologic syndromes.  This exposed me to many new aspects of epilepsy and challenged me to understand them from a more scientific perspective.  After this, it was my patients and their families who piloted the boat.  They reached out to Ed Cooper and helped me connect with him so that as additional patients were diagnosed, he could study genetic mutations and we could pool our experiences with treatment.

Q.What are the biggest challenges you face in your work?

A.The biggest challenge for me is seeing children suffer with epilepsy and all its comorbidities without having effective means to treat all of them.  There are also insufficient resources for families in the community and the healthcare system – long wait times for appointments, limited mental health services, overburdened developmental disability services, insurance hassles, etc.

Q.What inspires or drives you as a researcher?

A.I am driven by the possibility of personalized medicine.  The potential to obtain a specific diagnosis for each patient with epilepsy and target treatment to the fundamental cause of seizures to create better outcomes and prognoses.  This is where I feel medicine is heading and it makes for exciting research.

 

On Helicopters

S21_8023

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.

 carts lined up foursome 1 old friends foursome IMG_9194  IMG_9210 IMG_9209IMG_9211

 

 

 

 

All together now!

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.

 

 

A $500 Jake Shimabukuro-signed ukulele, and other stories

ukulele

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.

Jake S and Jason

The incomparable ukulele maestro Jake Shimabukuro and the amazing Jason Lent.

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.

Thank you to the Lowell Eagles!

jacksarmyIII

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!

 jacksarmyII

 jacksarmyI

Q&A on Epidiolex trial with Dr. Roberta Cilio

OLYMPUS DIGITAL CAMERA

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!

 

 

 

The 5-Finger Response—Explaining KCNQ2

 821924_53746324

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.

 

 

 

 

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?

-3

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!

-2

 

The Power of Parents Connecting

OLYMPUS DIGITAL CAMERA

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.

OLYMPUS DIGITAL CAMERA

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:

OLYMPUS DIGITAL CAMERA

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 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.”

OLYMPUS DIGITAL CAMERA

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!