Helicopter Ball drop to help KCNQ2 kids

Got Golf Balls? You could win $5000!

Thanks to our friends at Elite Air!

 

 

Celebrate Jack’s birthday at The Village Tavern!

Jack is turning six! To celebrate and support The Jack Pribaz Foundation and KCNQ2 research and awareness, our friends at The Village Tavern in Carol Stream are hosting a Dine Out 2 Help Out event. Bring the kids and grab some grub for a great cause Thursday, March 5.

Print out this coupon and bring it with you. Click this link for a PDF you can print: eatout2helpout

eatout2helpout

As always, Jack and his KCNQ2 buddies thank you for your support!

On a Mission: AES Seattle

On a Mission: AES Seattle

If you were a doctor or researcher working your way through the exhibition hall of the American Epilepsy Society’s Annual Meeting in Seattle last week, you would have noticed something new this year. For the first time, KCNQ2-related epilepsy was represented.

AES booth all set

AES booth all set.

The Jack Pribaz Foundation (JPF) sponsored a big corner booth and a banner that splashed our message overhead on a 20-ft. LED display.

LED media wall, with Angela Cherry for scale.

LED media wall, with Angela Cherry for scale.

With our purchase of the LED spot, we had exactly 15 seconds (looped repeatedly over three days) to catch the attention of the more than 4300 doctors and researchers, plus potential advocacy and industry partners, who wandered the exhibition hall. “KCNQ2” was on the screen for the entire spot, to help people get used to seeing it among the alphabet soup of rare genetic epilepsies: PCDH19 and CDKL15, for example, plus the better-named disorders and their interest groups that have been around longer, like Lennox Gastaut Syndrome, and Dravet Syndrome.

mike splaining at booth

Dads Mike Pribaz and Jim Thompson engaging docs.

In the LED banner ad we also animated the four-armed logo to reinforce our four strategic aims, which we came to Seattle to advance. So did we accomplish our mission?

1. Fund research.

In Seattle the JPF announced our new research grant application process. In the booth and online, instructions are now available for researchers who wish to write a letter of inquiry to initiate the process of applying for financial support. Our scientific advisory panel will help determine which proposals will merit funding.

2. Raise awareness.

Have you heard of KCNQ2?

busy booth AES

Busy booth!

Even though most of the doctors attending the AES meeting treat people with epilepsy, a fair number of them answered no to this question. We talked to hundreds of people, passed out pamphlets, pens, notebooks, and handshakes. Dozens of folks signed up to receive our free Q2 newsletter. And the reviewers who will be scoring Dr. Cooper’s Center Without Walls grant proposal are likely to have been there and will have noticed the flurry of interest that KCNQ2 was generating in the exhibit hall and in the research presented in the scientific sessions.

3. Empower Parents.

We want to thank Jim Thompson, Annika’s dad, who volunteered to travel from Iowa to help us man the booth and work the crowd, which he did brilliantly. It was wonderful to get to spend time with him. Thanks, Jim!

In a way, Jim wasn’t the only parent representing the KCNQ2 community with us. On the table in the booth we set up a monitor that looped the banner ad with the video Lisa Miller made this summer (see link) featuring the faces of so many of the KCNQ2 kids whose families have joined together in this cause. Many stopped by to watch it, to put sweet faces with the KCNQ2 name. The children have an important story to tell, and the medical community is starting to listen.

cooper, jim T, mike

Jim Thompson, Dr. Ed Cooper, Mike Pribaz

There’s so much more work we can do together. Numerous visitors made it a point to tell us that this foundation work is important, that it truly helps move the ball forward. That was nice to hear, and we are proud to pass that praise right along to you, our partners who support us in big ways and small. #togetherinsearchforacure!

4. Create Collaboration.

In Seattle we networked with clinicians and researchers from across the nation and world. We met with our scientific advisers and some of their colleagues,and heard more about their work. We made some friends among the pharmaceutical set, too, and are following up with them about some exciting educational partnership ideas. Stay tuned.

But perhaps the most promising development at AES was being invited to attend a pre-conference meeting run by Professor Anne Berg of Lurie Children’s in Chicago. Together with several clinical, research, industry, and parent advocacy leaders in early life epilepsy, we talked about concrete ways we can collaborate.

Drs. Peter De Jonghe, Sarah Weckhuysen, and Ed Cooper.

Drs. Peter De Jonghe, Sarah Weckhuysen, and Ed Cooper.

While our different genetic conditions alone may be rare, the argument is starting to be made that, considered together, the kids who have early life epilepsies account for an important clinical population that needs more attention. How can our different groups find ways to work together toward common goals? In Seattle that conversation expanded to include new voices, and we are thrilled to have represented KCNQ2 among them.

 

KCNQ2Toots fundraiser!

Screen shot 2Toots

DOWNLOAD YOUR FORM to take with you by clicking the link below.

2Toots Dine Out Form for Jack’s Army

After the Summit: Back Down to Earth

WEckhuysen w Fitz'sOne dad said it almost like a kid who’s been told the play date is over: “I’m not ready to go home.” Before the Denver Summit was half finished, he was already dreading the inevitable return to normal life. It was understandable.

There was something so empowering about being surrounded by a KCNQ2 crowd–a dozen or so children and families, plus siblings, grandparents, friends, doctors, and researchers.

Maybe it was the novelty of meeting other people who really know what life is like on Planet KCNQ2. They understand each others’ superpowers and kryptonites. Or maybe it was the feeling of family reunion that permeated the Summit as parents posed for group shots and held each others’ babies. Of course there was definitely something reassuring about seeing and hearing firsthand that brilliant, compassionate experts are hard at work on behalf of these children.

But perhaps most powerfully we sensed a brimming energy. We could feel a convergence of individual enthusiasm, like so many mirrored panels all focused on one bright tower. We were a KCNQ2 solar collector, each reflecting and concentrating light to convert it into usable energy.

 

NOW WHAT? KCNQ2 tote

Coming down from altitude is never easy. The question now, on a Monday morning, is how can we use that energy going forward? How do we channel the spirit of the Summit?

First of all, TALK IT UP! Together we need to spread the word. Share your pictures from Denver. Slap that bumper sticker on your car (and take a photo of it, next to your license plate. I’m starting a collection for a fun photo gallery!).

Check out the new KCNQ2.org website, which is updated and ready for action. Dr. John Millichap did a phenomenal job of contributing to the medical portal for all those doctors and other medical professionals who want an overview of the science of KCNQ2. We will also be building up the virtual library with videos and adding resource content as we get it. Let your doctors know that they can direct their colleagues there.

Whenever a friend or relative asks how they can help, please let them know about our new portal designed with them in mind. It explains there how the Jack Pribaz Foundation is a public charity and that gifts are tax exempt. Find ways to help support the cause. And if you have other suggestions, let us know!

INSPIRING IDEAS

One family in Denver told me that for their daughter’s birthday they asked for friends and families to make a donation to the Foundation instead of bringing a birthday gift. What a great idea!

Perhaps you heard this very touching story: We received a check in the mail in memory of a name we didn’t recognize. That name turned out to belong to the great-grandmother of one of our KCNQ2 kids. The two had shared a special bond, and when the great-grandmother passed away the family asked for donations to the Foundation in lieu of flowers. We were so moved.

And then there’s the amazing example of Gwen’s mom Gretchen, who held a fundraiser in her hometown of Youngstown, Ohio, at a local martini bar. She put together an outstanding event that raised more than $3000!!! Her good friend Melinda held a second fundraiser by baking cookies. $800 worth of sweetness!! Way to go, Ohio! You are an inspiration!

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THANKFUL

We have always believed that the way forward is together. We have to thank the people in Wheaton, Illinois, who have supported this Foundation from the very beginning, and the many folks who have joined us along the way–now from all over the world! A special thanks to the Lazaridis family from Toronto, the Fitzpatricks who crossed the sea from Dublin, Vivi Lopez de Rodriguez who came from Guatemala, and all who came from far and near. Our love to those who could not make the journey but were with us in spirit. And of course a very special thanks to Jim Johnson and Scotty Sims for all their successful hard work. It was a few days we will never forget!

Are you inspired by what happened in Denver? Let’s keep moving forward Together in Search for a Cure!

  sadie and abigail millichap lecturing Nancy and GG -9gretchen gwen and sara annikameeting mark hugs

Meet the Experts: Dr. Edward Cooper

Edward Cooper

Dr. Edward Cooper

It was the first week of January, 2012. My nephew had received his KCNQ2 diagnosis in November, but so far we had found no particularly useful information, no foothold in the mountain we knew we would have to start climbing. All we had were 4 letters and a number.

Maybe it was pure New Year’s optimism that made me try Googling K-C-N-Q-2 all over again. It’s a time of year we believe more than ever in the power to make positive change. So it was in that spirit I found someone named Dr. Ed Cooper down in Texas. There was an email address. I sent it to my brother Mike and asked, “Why not give it a shot?”

Mike composed a note to Dr. Cooper, hit send, and prepared for a long wait for a response. But the reply came the very next day, and so began an amazing journey of collaboration, discovery, and connection. We are so grateful for Dr. Cooper and his tremendous support. And we encourage you to get to know him too! Register your child in his RIKEE project to help make positive change in the understanding of KCNQ2-realed epilepsy.

Q.Can you briefly describe your background?

A.I grew up in the northeastern US, attended Yale, studying history and pre-med, and worked as a lab tech at UC San Francisco for a couple years before returning to Yale as an MD PhD candidate.  I returned to UCSF for my neurology residency training, and stayed on as a post-doc before establishing my own lab.

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

A.Before KCNQ2 was discovered, I had already worked on related voltage-gated channels for about 10 years during my PhD and post-doc.  As a neurologist in training, I anticipated epilepsy would be related to channels more clearly than was then known—in fact, others had begun to uncover how mutations in channels could result in diseases, both in experimental animals and man.  My mentors at UCSF, Lily and Yuh Nung Jan, had cloned the very first potassium channel gene, showing that its mutations caused attacks of uncontrollable shaking in a widely used genetic model.  Lily was asked to peer review the first papers describing the link between KCNQ2 and KCNQ3 and human epilepsy in 1998. When the papers were accepted, Lily asked me, as the only neurologist in her research group, to help in preparation of an accompanying editorial. I was fascinated by the new work, switched my postdoctoral project to KCNQ channels, and published my first papers in collaboration with Lily in 1999-2001. That work allowed me to begin my independent lab.

Q(2).What are the biggest challenges you face in your work? What inspires or drives you as a researcher of genetic epilepsies?

A.Interestingly, I think of your two questions as inextricably linked—the challenges are inspiring.  First, I am in this to help the patient–that’s the fundamental goal. Second, I am inspired by the beauty and surprises of the brain’s mechanisms, appreciation for that is something that deepens with training. Third, the collaborative team spirit in research, learning from great teachers and working with able students, makes it fun even when it is difficult—with KCNQ2 this has now been broadened to include the collaboration with parents and families that has become so important for our work.

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

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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.