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Calling all KCNQ2 families! Save the Date!

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Save the date: July 8-10, 2017

Every year–for five years now–we’ve had so much fun raising money for KCNQ2 research and awareness at our annual golf outing. We have been blessed and energized by the company of other KCNQ2 families at this event, and this year we are excited to announce that we are expanding it. We want you to join us!

This July we will be hosting a family-focused weekend before our golf outing. It’s designed to bring families together in a fun, relaxing, informative, and inspiring format. Part retreat, part seminar, part think tank, the KCNQ2 Family Roundtable promises to be your best long weekend getaway of the year! And if you like to golf, well that’s just icing on the cake.

You are cordially invited!

Click here to go to the KCNQ2 Family Roundtable events page to see a preliminary agenda and other details. Email info@KCNQ2.org to let us know you’d like to come, or to ask any questions you may have. We hope to see you in July!

 

 

 

 

 

Presenting the first Sophie Award winner!

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The Jack Pribaz Foundation was proud to present the inaugural Sophie Award for Young KCNQ2 Investigators to Dr. John Millichap. The $15,000 prize is designed to support and encourage research of KCNQ2-related epilepsy and encephalopathy.

Dr. Millichap is an attending physician in the Neurology and Epilepsy Center at the Ann and Robert H. Lurie Children’s Hospital in Chicago and Assistant Professor of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine. The Jack Pribaz Foundation chose Dr. Millichap to receive the award for his dedication to bridging bench science and clinical application and for his contributions to the medical literature.

“At the heart of any pediatric medical research there is always a family who needs a champion to fight for their child,” said Mike Pribaz, President of the Foundation and one of the directors of the Board. “We are proud to honor Dr. Millichap with this award for his efforts to identify new patients with KCNQ2 mutations and to educate the medical community throughout the world about this rare condition. Dr. Millichap is a champion for the entire KCNQ2 family and the larger community of pediatric neurology.”

Liz Pribaz presents Dr. John Millichap with the first ever Sophie Award for Young KCNQ2 Investigators on January 23, 2016, at Lurie Childrens' Hospital in Chicago. Mike Pribaz and son Jack hand off the big check.

Liz Pribaz presents Dr. John Millichap with the first ever Sophie Award for Young KCNQ2 Investigators on January 23, 2016, at Lurie Childrens’ Hospital in Chicago. Mike Pribaz and son Jack hand off the big check.

“I accept this award with pride and a sense of excitement,” said Dr. Millichap. “It’s amazing to see how far we’ve come in such a short time. There’s tremendous momentum in this field of study and a vibrant international community of researchers and patient advocates to work with.”

The Jack Pribaz Foundation established the Sophie Award in honor of a child named Sophie who passed away from complications of the disease. The aim of the award is to inspire the next generation of KCNQ2 researchers. Young investigators are encouraged to learn more about the Award and how to be nominated for consideration of future Sophie Awards.

A huge thank you to all the JPF donors whose generosity makes such moments–and such important work in KCNQ2 and rare epilepsy research–possible. We are truly Together in Search for a Cure!

Want to support KCNQ2 research through the Sophie Award? Click here to donate.

 

Believing in you and KCNQ2

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“Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.” –Margaret Mead

 

 

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“I believe that if you show people the problems and you show them the solutions, they will be moved to act.” –Bill Gates

Heart to Heart

Last weekend we came together with a small group of the many people who have been with us since we launched this foundation five years ago, plus newer friends who have strengthened our ranks. If your ears were ringing it’s because we were talking about YOU—all of you from all over the world who have been a part of this KCNQ2 movement in one way or another—as family member of a KCNQ2 kid, as doctor, as researcher, as supporter, as cheerleader, as friend.

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“The future belongs to those who believe in the beauty of their dreams.” –Eleanor Roosevelt

We are so grateful for your support.

You are among the first who believed in the bold notion that we could make a difference. You believed, like Mike and Liz and Jack’s doctors did, that with funding and research KCNQ2 would reveal its secrets. And it is. You believed that sharing this journey meant we could find other kids and help them and their families. And we have. You believed this thing was bigger than any of us. And is it ever.

 

Look how far we’ve come

With special thanks to the many researchers and clinicians who dedicate their time and talent to groundbreaking work on KCNQ2-related epilepsy, the greater KCNQ2 community is in a totally different place than when we started five years ago.

Basic understanding of the disease is advancing
In 2012 the molecular mechanism of the disease was only a hypothesis (Millichap and Cooper)–most frequently a “dominant-negative” loss of function. Now it is accepted as applicable to the large majority of patients (about 90%).

Treatment of the seizures in infancy is advancing
We now have evidence of the effectiveness of two treatments: a potassium channel opener (Park AES abstract 2014, manuscript in review) and of sodium channel blockers (Pisano 2015).

We have a deeper understanding of the diversity within the “KCNQ2 spectrum”
–In terms of the patient population and their symptoms: there are two types that have onsets without neonatal seizures, and one with inheritance from a parent who is mildly affected (Millichap, Li, and Mulkey posters, AES 2015)
–In terms of the molecular basis of disease: important subgroups of patients (~10%) have been identified where the molecular mechanism is quite different “gain (not loss) of function” (Miceli 2015, Millichap poster 2015)

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CWoW teammates Drs. Anne Berg (NU), Ed Cooper (Baylor), Al George (NU), and John Millichap (NU)

We have cultivated broad agreement to collaborate among international leaders as a method for hastening progress
This is so fundamental to the creation of RIKEE.org and the process of writing the CWoW grant application in 2016. The network has an inspiring depth and breadth,  spanning four continents.

We are attracting the attention of pharmaceutical companies
Emerging interactions with drug developers who have the resources will provide new treatment candidates for testing (SciFluor).

 

Thanks to you

This is just a sampling of the excellent progress being made since we set out five years ago. Thanks to ALL OF YOU, we’ve covered a remarkable amount of ground in a relatively short amount of time. Even so, Dr. Cooper noted that “science is never fast enough” when it comes to caring for kids who need it most. We know we have a long way to go, but we are getting there.

So thank you. Thanks for believing in us, in the power of collaboration, and in all the kids who are the true pioneers in this KCNQ2 movement.

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“It’s not how much we give, but how much love we put into giving.”–Blessed Mother Teresa of Calcutta.

 

Click here to make a secure online donation  through PayPal to benefit KCNQ2 research.