Jack’s Army Blog
KCNQ2’s Global Connections
We are excited to see KCNQ2 on the international stage with this fabulous news coverage. More than once we have been told by researchers and seasoned epilepsy advocates that the KCNQ2 community is viewed as a model of motivated families joining forces to drive medicine forward. It’s a big honor, and a bigger responsibility, to be thought of as an example of how to do things right. Because as Whole Exome Sequencing and other genetic testing becomes readily available, more and more families will arrive where we all were just a few short years ago, stuck with a strange alphanumeric diagnosis that offers precious little information, wondering where in the world to turn.
It is essential for the KCNQ2 kids that parents find the support they need. It’s like the old drill about the oxygen mask that falls in case of an in-flight emergency. The parents need to breathe before they can help their children. For parents who live in the rarefied atmosphere of raising a KCNQ2 kid, lifting one another up by sharing ideas, questions, frustrations, fears and joys is that oxygen.
- Peek inside Dr. Cooper’s Lab and get links to more KCNQ2 news coverage with this report from March 2014.
Connecting for the Kids @AES 2015
The latest news piece speaks volumes about parents connecting, but behind the scenes there is another important story to tell. Simply put, these rare KCNQ2 kids have inspired the researchers themselves. Just a few years ago it was almost impossible to find anyone researching KCNQ2, and those who did were focused on theory and molecules. Now many of them have encountered real children who bear the gene. The scientists have someone, and not just something, to study. And they have looked into the eyes of the parents and seen their life’s work reflected there in new, urgent ways.
This human connection has compelled the experts to greater levels of professional collaboration. Breaking out of their individual “silos,” they too are redefining new cooperative models for advancing the science: They are sharing data, coauthoring papers, and writing grants together across the ocean. At the AES meeting in Philadelphia in a few weeks, thousands of doctors will hear more than ever before about KCNQ2 in the open sessions.
This year at AES a multinational team of KCNQ2 experts will meet in a daylong special session sponsored by grants from the National Institute for Neurological Disorders and Stroke (NINDS), Citizens United for Research in Epilepsy (CURE Epilepsy), and The Jack Pribaz Foundation. We are excited to learn what will emerge from this new worldwide collaboration. When you can bring motivated people together, good things are bound to happen for the KCNQ2 kids.
Come join us for a day of fun and fellowship to support KCNQ2 research.
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
As always, Jack and his KCNQ2 buddies thank you for your support!
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.
The Jack Pribaz Foundation (JPF) sponsored a big corner booth and a banner that splashed our message overhead on a 20-ft. LED display.
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.
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?”
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.
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.
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.
DOWNLOAD YOUR FORM to take with you by clicking the link below.
One 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.
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!
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!
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!
When I got in touch with Dr. Ingrid Scheffer she was away at an epilepsy conference in Bologna, Italy, after having just hosted a major Dravet Syndrome conference in Melbourne. We are very grateful that the globe-trotting epilepsy expert has agreed to participate in the Denver KCNQ2 Summit. As she catches her breath back home in Australia, we will “beam” her in (if she can sit still long enough!).
Professor Scheffer is Chair of Pediatric Neurology Research at The University of Melbourne and Senior Principal Research Fellow at the Florey Institute of Neuroscience and Mental Health. She is a founding fellow of the Australian Academy of Health and Medical Sciences and is currently its Vice-President. She has served the International League Against Epilepsy in many capacities and held the Chair of the ILAE Commission for Classification and Terminology from 2009 until 2013. Read more about her background here.
Dr. Scheffer has received numerous awards for her groundbreaking work. One of her recent accolades is the prestigious 2012 L’Oréal-UNESCO Laureate for Women in Science for the Asia-Pacific Region. These annual awards are given to five women scientists, one from each of five global regions, whose exceptional careers blaze trails for the next generation of women scientists. Dr. Scheffer was the first to win for epilepsy research, and it is rare for this prize to be awarded to a physician-scientist.
Dr. Scheffer’s work is praised on the UNESCO website:
Ingrid Scheffer is helping to transform the diagnosis and treatment of epilepsy, a brain disorder characterized by seizures and other symptoms that can be extremely disruptive to the lives of the 50 million people affected by it. She has described several new forms of epilepsy and her research group was the first to uncover a gene for epilepsy and subsequently, many of the genes now known to be implicated. These revolutionary findings, which have already improved diagnosis and treatments for many patients and may lead to the development of new therapies, can also be used for genetic counselling. Professor Scheffer’s goal is to ‘make a major difference to patients and families through science’.
Professor Scheffer collaborated with the Belgian group of Dr. Sarah Weckhuysen and Professor Peter de Jonghe to delineate KCNQ2 encephalopathy. There had been a few previous reports of single patients with severe disorders and mutations (abnormalities) of the KCNQ2 gene but the disorder had not been well recognized. Their team identified a group of children and delineated this severe disorder, now recognized worldwide.
Professor Scheffer has worked with the Belgian group to report a second group of patients including a more mildly affected child that she looks after, expanding our understanding of the presentations of this disease. Get a glimpse of Dr. Scheffer’s work with the daughter of our good friend Sara James Butcher, in a 30-minute documentary for the “Australian Story” series.
KCNQ2 encephalopathy is one of the severe epilepsies of infancy and childhood known as developmental epileptic encephalopathies which are now recognized to occur due to mutations in a large number of genes. Typically a child has a mutation in one gene that arises newly in the child and is not inherited from their parents. By recognizing a specific disease such as KCNQ2 encephalopathy, Dr. Scheffer explains, we can learn which medications control seizures and which medications make seizures worse. We can learn about the outcome of this disease and the various medical problems (co-morbidities) that may occur such as autism spectrum disorders, cerebral palsy, sleep and feeding disorders.
Dr. Scheffer says the biggest challenge she faces in her work is finding enough hours in the day to care for her patients and families and to fulfill her other roles of teaching and mentoring young clinicians and researchers and working on her research, let alone her administrative responsibilities in the hospital and university – and finding time to see her own wonderful family and friends. She is passionate about her patients and her research and her dream is to find a cure to these devastating disorders.
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.
Dr. John Millichap is next up in our Meet the Experts series.
He is a Pediatric Epileptologist in the Comprehensive Epilepsy Center, Ann & Robert H. Lurie Children’s Hospital of Chicago, and Assistant Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine. He completed residency in pediatrics at the Brody School of Medicine at East Carolina University, residency in Child Neurology, and fellowship in Clinical Neurophysiology / Pediatric Epilepsy at Children’s Memorial Hospital (now known as Lurie Children’s) and Northwestern University Feinberg School of Medicine.
Jack is very fortunate to have Dr. Millichap caring for him as a patient, and we are privileged to have his tireless help as the medical adviser to the Jack Pribaz Foundation.
Q.How did you first get interested in studying epilepsy and the KCNQ2 mutation?
A. I developed my subspecialty interest in the evaluation and treatment of epilepsy during my Child Neurology training in Chicago under the mentorship of Douglas Nordli, MD, the head of the Epilepsy Center at Lurie Children’s. After the first patient with KCNQ2 encephalopathy was diagnosed at Lurie Children’s, his parents contacted Dr Ed Cooper at Baylor School of Medicine, who has provided support and mentorship for my research in this field.
Q. What are the biggest challenges you face in your work?
A.One of the main goals of epilepsy treatment is to achieve no seizures, without side effects. Knowing the cause of the seizures is not only important for choosing the right treatments, but also for parents’ peace of mind and to end the need for continued testing.
Q. What inspires or drives you as a researcher of genetic epilepsies?
A.Caring for treatment-resistant epilepsy is a challenge. I am hopeful that improvements in genetic testing methods and the increase in knowledge about the causes of epilepsy will improve the lives of children with epilepsy.
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.