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Sepp’s Story

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What’s up with you?

I am grateful for the opportunity to present our story on this platform and I hope that writing all this down allows us to remember this significant part of our lives and give hope and information to other parents who are in the same situation.

Sepp was born on 2nd of May 2016. He is our second child and like his sister Vroni, he was born in Trier- Ehrang, Germany. The delivery itself was uncomplicated but right afterwards we were waiting for Sepp to make a sound but nothing happened. We got an uneasy feeling and started asking questions such as, “Is everything OK with him? What’s going on?” His face appeared to be quite violet and even the calming words from the delivery nurse could not stop us from worrying. After a while, he would start to whimper and we were allowed to hold him; however, the uneasy feeling would not disappear. When I held him in my arms for the first time, I asked him: “Sepp, what’s up with you?”

Eventually, we calmed down and tried to enjoy this great moment, also because the color of his face gradually started to become normal. Nevertheless, anxiety remained in the back of our minds.

When they took him to our room, we swaddled him in the hope this would give him comfort, as we knew his sister used to like it.

When speaking to people during my pregnancy and telling them that I was expecting a boy, they told me that I should expect him to have tummy ache – apparently, boys suffer from tummy ache more often than girls do. I discounted this as an exaggeration and I didn’t think much of it.

However, it started the very same evening: when he had to do his business and as generally known, it was all sticky and a considerable amount for such a small baby. At this moment, the paediatric nurse was with me and she suggested giving him a bath. I liked the idea and agreed. After the bath, for the first time, Sepp made a strange movement and the nurse asked me if he had done this before. I said no but also mentioned that he had been swaddled and hence been unable to move. Shortly afterwards, he did the same movement again. I thought that he might be doing his business again and this is what it actually was. Therefore, I dismissed the strange movement as his effort to strain. The next day went by normally: trying to get some rest, feeding and observing the baby. Sepp had been swaddled at all times and in retrospect, we surely missed some of his spasms.

In the evening, Sepp was due for a hearing test. During the examination, we again noticed these “strained movement patterns” much to the dislike of the nurse. So a doctor has been called in but she was also at a loss with the situation and upon our insistence, she consulted with another hospital. Sepp was then taken to the intensive care unit at the next larger hospital (Mutterhaus in Trier).

Meanwhile, Sepp’s spasms were significantly more distinct and regular and the doctors tried to get them under control. From venesection, blood drawing, Tavor (Lorezepham), Dormikum, Keppra, Luminal, they tried everything but all with no effect.

Sepp continued to suffer from spasms every 30 minutes! Checking the clock became quite a painful matter.

Findings from the EGG were bad and we were unsure what this meant. Sepp was taken for a MRI and a CT scan and again an EEG. All those tests were so time consuming and Sepp continued to have convulsions.

Since there were a couple of public holidays at the beginning of May, we decided to take Sepp to the University Hospital in Heidelberg to be able to continue with the diagnosis and to benefit from their experience with a supposedly unknown disease.

Toward some answers

So seven days after his birth, Sepp was on his way to the third hospital. After arriving there, we felt in good hands and further examinations were conducted immediately. We were assigned to Dr. Ziegler and we thank God for that.

Connect with your KCNQ2 family at the KCNQ2 Family Roundtable this summer! Click here for details.

After several tests and drug administration, on his tenth day for the first time, Sepp did not suffer from any spasms. However, the EEG was still showing disastrous results and Dr. Ziegler made an initial diagnosis: KCNQ2. He took another blood sample and sent it to a genetics lab for evaluation. It took six weeks before the results became available. Meanwhile, Sepp was recovering well and on the 16th day, we could take him for a walk. The results from the EEGs were still poor but showing a positive trend.

One week had passed without any spasms and we were supposed to take him home. He was still very weary and weak though. The initial medication included B6 and pyridoxal5phosphate, which were supposed to be removed from the medication, as they did not show any effect.

Shortly afterwards, Sepp`s condition was gradually deteriorating. He was breathing heavily and the level of CO2 in his blood started to increase. On the 19th day, the situation became critical: he needed to receive supplemental oxygen and had to be taken back to intensive care. His lungs were x-rayed and they found a shadow on his lungs even though there had been no sign of increased inflammation values. Since he was breathing abruptly, the doctors’ assumption was that his lungs must have filled with either milk or liquid meds.

For days, the CO2 level continued to increase and so we had no other choice but ventilation through CPAP (“continuous positive airway pressure”). To make matters even worse, the spasms returned.

For the respiration, CPAP was now not sufficient any longer and he had to receive artificial respiration. Also, the results from the EEGs worsened again.

On the 21st day, B6 was re-introduced in the medication but only for experimental purposes, as there would have been no explanation if it actually did work. However, it worked and the spasms lessened. On the 26th day, Sepp was able to breathe freely again, without the help of artificial respiration. Once again, he was recovering well.

Unexpectedly, on the 30th day, we were moved to another hospital near our home in Trier while waiting for the report from the genetics lab.

While waiting, Sepp fell ill with pneumonia but the spasms were abating.

On 20th June 2016, six weeks after his birth, we received the final diagnosis: KCNQ2.

The nurses prepared everything for us so that we could finally take Sepp home. We got a surveillance monitor and were trained in first aid measures and for the use of the emergency medicine. Sepp also got his first vaccination done and we had further intensive discussions with neurologists, pediatricians and geneticists.

Meanwhile, our requests for domestic aid and from the child protective services had been rejected but we didn’t worry about that too much. Our main goal was to get Sepp home.

We did receive support though from a local after treatment-center who provided psychological support, and we received help from a nurse. A caseworker was also assigned to us.

At home with KCNQ2

After a couple of weeks we got into a certain routine and we met with the Rentergent family and their son Lars. We were very pleased about this meeting. We spent a lovely day together, received various information and gathered many impressions.

In the meantime, Sepp was being continuously monitored and controlled: EEGs, blood samplings and medical examinations. All examination results were send to Dr. Ziegler in Heidelberg who determined all further proceedings in collaboration with Dr. Petersen in our local hospital in Trier.

We discontinued using some of the meds that have proven to be of no benefit: Phenobarbital, Pyridoxal5Phosphat (whereas B6 was still being used) and lastly Keppra. We reduced from 5 different meds to 2 and from 4 times a day to 3 times. This made things a lot easier but all together a whole lot to do and to consider and one would not believe how hard you struggle to get certain things done.

When we heard about Summit we knew that one of us would have to join. This was an irreplaceable experience for us and we were thankful for the opportunity to meet up with other families.

Around Christmas time, we also met with Anna and Sanna and their families. A great get-together and it was encouraging to know that we are not the only family in this situation.

Sepp was also doing better, which means there were no more spasms and he integrated himself into our daily life. He even didn`t mind car drives and being pushed in the baby pram anymore. He laughs a lot, and loud noises and hectic movements do not bother him anymore. His hands started to open up and he is practicing to grasp. He started teething and we had many sleepless nights. Over a period of six weeks, he has been coughing while nursery school was about to start. Unfortunately, Sepp fell ill with pneumonia and had to be taken back to hospital. With a two-week delay, he could finally join nursery school.

We just spent our first vacation and had a lovely time together. We look positively into the future and make the most of each day.

At this stage, I would also like to thank a number of people but the list would grow too long. In general, we received great support from our friends, families and people that became friends. Whether it`s been big or small gestures each and every single support of whatever form was greatly appreciated. Everybody is to be thanked for this–you guys are awesome.

Our warmest regards to all the other KCNQ2 families out there. We are proud to be a part of this community.

SEPP U VRONI , SIMONE UND BASTI

 

 

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!

 

 

 

 

 

Q2 Care Package Project Goes Global

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Making connections

Connecting people is the main impetus behind our Q2 Care Package project. In a way, it is the motive that launched the Jack Pribaz Foundation in the first place.

When we started out in late 2011 there was no website or Facebook page or any community around KCNQ2-related epilepsy. Zero. Crickets. We were stranded on an emotional and clinical desert island.

Jack’s parents Mike and Liz hated being isolated in a vast sea of medical unknowns. But they knew, Jack’s doctors assured them, that there would be more kids like their boy. That there were more KCNQ2 kids out there. We just needed to find them.  Our first website was a message in a bottle.

Curious about the history of the foundation? Read more here.

Sending a little love

Fast forward five years. Today we enjoy a thriving, welcoming community of KCNQ2 families who support each other and share war stories and triumphs. Most of these connections happen virtually, and so we wanted to offer a tangible welcome to new families who are just getting their bearings.

We turned to our heart-of-gold KCNQ2 supporters at our annual Jack’s Army golf outing last July and presented the idea for these Q2 Care Packages. Their generous response means we can send these little boxes of goodies around the world, and it means that each box is sent with the love.

“I love putting these Q2 Care Packages together,” Liz says. “I don’t get to travel as much as I’d like, so it is really fun to be contacted by people from all over the world. It makes me so happy to imagine these boxes finding their way to other families in faraway cities everywhere. And I do mean everywhere!”

Are you new to the KCNQ2 Community? Contact us here to request a Q2 Care Package

At the time of this writing Liz had mailed 48 packages all over the United States and to Ireland, Germany, Netherlands, Belgium, Serbia, Croatia, and Spain, to name but a few. Just Friday she was at the post office with boxes heading for Florida, Canada, England, and Italy.

Are you in or near the UK? Connect with families at the KCNQ2 Cure Alliance’s UK Meet-Up April 1! Click for details.

Best thing in the box

It’s not the adorable teddy bear, although the kids might disagree. It’s not the classic KCNQ2 t-shirt, either, or the nifty car magnets.

The best thing in the box is actually the information and instructions about enrolling in the RIKEE registry. Our scientific advisers have stressed that one of the most powerful things we can do as parents and as a foundation is to help grow the patient registry. Connecting with as many families as possible is not just compassionate; it’s also pragmatic. It’s the ticket to powering the research needed to run clinical trials and find a cure.

Have you registered in RIKEE yet? It’s easy. It’s important. Click here.

 

 

 

If you are reading this blog post you probably already have some knowledge of KCNQ2-related epilepsy, or love someone who suffers from a mutation in that gene. Stop to think about the families who are just now beginning that difficult diagnostic odyssey, or who have just received a diagnosis and don’t know what it means or where to turn.

Together we can find them. We can send them a little love. We can invite them to help our cause by enrolling in the RIKEE registry. We can let them know they are not alone.

You can help send a Q2 Care Package by donating here.

 

Announcing the Sophie Award for Young KCNQ2 Investigators

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This is a story about faith in the future.

Sophie was born in Arkansas to parents Sasha and Colten on January 4th, 2015. When Sophie was diagnosed with KCNQ2 at 4 weeks old, her parents did what most parents faced with this diagnosis do: whatever they can to help their children.

Sadly, little Sophie, who had further medical complications, died at just 13 months old. For Sasha and Colten, that desire to do whatever they could to help Sophie turned into a desire to help other KCNQ2 children. They made a tough decision and donated her brain to science. This donation will help in the study of epilepsy and KCNQ2.

So to honor Sophie and her parents’ tremendous gift, The Jack Pribaz Foundation is establishing a new award for KCNQ2 research. We are calling it the Sophie Award for Young KCNQ2 Investigators.

This is an award that looks bravely forward, like Sasha and Colten have. It is a grant in the amount of $15,000, designed to support and encourage research of KCNQ2-related epilepsy.

We are thrilled to announce the first Sophie Award winner today at the 70th Annual Meeting of the American Epilepsy Society in Houston, Texas.  The recipient is Dr. John Millichap, attending physician at 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. We chose Dr. Millichap for his outstanding dedication to bridging bench science and clinical application and for his contributions to the medical literature. His work is advancing understanding of KCNQ2-related epilepsy into the next generation of scientists and clinicians.

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Dr. John Millichap

“I’m so proud to receive this award and to be a part of KCNQ2-related epilepsy research,” said Dr. Millichap. “The spirit of collaboration I’ve found on an international scale among both researchers and families is uncommon and powerful. Together we have come a long way in a relatively short time, but there is a lot of work ahead of us,” he said. “Receiving the Sophie Award is exciting but also humbling, because at the heart of our efforts are children and families who desperately need science to catch up with their conditions.”

We are very passionate about this prize because it is a special opportunity to support KCNQ2 research and also to recognize the important partnership that KCNQ2 families have with researchers. That’s what Sophie’s gift was all about.

Look into the future with us. Gifts made to the Sophie Award for Young KCNQ2 Investigators will go to sponsor scientists, grad students, doctoral candidates, and young professors of the future in Sophie’s memory.

Contribute to the Sophie Award for Young KCNQ2 Investigators here.

We sincerely thank Sasha and Colten for their dedication to the KCNQ2 cause. And we congratulate them, too– they had a new baby boy this summer! They give us so much hope!

 

Gillian’s Story: So much to teach the world

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It seems like families receive new diagnoses of KCNQ2 on a weekly basis, but some “old timers” can remember a time when there were only a handful known to each another. Gillian’s family first shared her story almost three years ago, and we want to thank mom Nancy and for this wonderful update. Sharing stories represents not only a special generosity, but also the very real need to connect and know we are not alone. That is as true now as it was when we first met this special young lady.

It has been three years since Gillian’s diagnosis. Today at the age of seven she continues to be an active and happy girl. She has finished the second grade and is doing very well in school. She loves listening to music and dancing. She enjoys swimming and gymnastics, especially jumping on the trampoline.

25870427843_6f61ddfcba_zLife with Gillian is unpredictable. As an infant we parented Gillian much in the same way you would any other baby but with the added worry of managing her meds. As she began to grow her inconsistent sleep patterns resulted in severe temper tantrums. This combined with Gillian’s inability to communicate her needs made life difficult at times. Although she is still nonverbal her receptive communication is fairly good and she is better able to understand what we say. Her expressive language is also coming along and we have begun using an iPad to help her communicate.

Read how our friend Molly uses her Nova Chat to communicate.

Gillian’s behaviours are less frequent these days but physically more difficult to manage. We love our little girl and her determination and hard work continues to amaze us. We feel very blessed to have such and amazing community of KCNQ2 families with whom we can share both the good and difficult times. It would have been great to have their support early on as we have learned so much from them in the past three years. Gillian’s future continues to be uncertain but we no longer have to face it alone. Together our amazing KCNQ2 kids have so much to teach the world.

We invite you to share your KCNQ2 Journey here.

Giilian’s original story

On December 29, 2008, we gave birth to a beautiful baby girl. Although she was initially quiet, her newborn cry soon filled the air. We were overcome with joy and love that we were eager to take her home to meet her big brother. After waiting the requisite 24 hours we took our beautiful baby girl home, unaware that anything was wrong. Friends and family dropped by and we celebrated the end of a very happy year.

Gillian

By the morning of January 1 we were sure something must be wrong. Gillian was making odd movements, her body was stiffening, her head turned to the side, and her eyes deviated followed by a loud-pitched cry and rapid heart rate. A trip to our local children’s clinic confirmed she was having seizures. We took her to the Hospital for Sick Children in Toronto. While in triage, Gillian had another seizure and was immediately admitted and taken for testing. Blood tests, a spinal tap, CAT scan and a MRI all followed. With the exception of an EEG, which showed abnormal brain activity, all tests were negative. Gillian was admitted to the hospital, and over the next 28 days she would continue to have seizures. With the help of three different medications Gillian had her last seizure in hospital on the day we brought her home.

Over the next few years we parented Gillian without a diagnosis as genetic and metabolic testing continuously produced negative results. Despite obvious developmental delays, Gillian eventually learned to walk at age two. In the spring of 2011, at the age of 3½, Gillian was finally weaned off her last anti epileptic. Genetic testing continued to produce negative results and we were prepared for the possibility that we might never know what was truly wrong with our daughter.

It was not until a year later on request by her neurologist for one more genetic test that we received a positive diagnosis for a mutation on her KCNQ2 gene. Although we now had a name for her condition, doctors could not tell us anything new about her future and we felt once again alone on this journey, until we came across Jack’s Army and the work of Doctor Cooper. Suddenly our family began to grow to include so many amazing children and their parents. Today at the age of five Gillian is an active and happy girl with a slightly mischievous side who enjoys listening to music, dancing, running and playing. Although she cannot speak she lets us know everyday how much she loves us. We are constantly amazed by our little girl and looking forward to her future.

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Keeping up with Molly: A KCNQ2 Journey update

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Since last we heard from Molly Turner’s family, there have been big changes for this little girl. And we’re not just talking about her big-surprise-tiny-house! KCNQ2 Journeys is pleased to share this update with readers, who may have first read Molly’s story on the old Jack’s Army website (reprinted below). Our thanks to mom Elizabeth for giving us her insights.

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Molly Turner

Q: How old is Molly now? ​
A: Molly is 6.

Q: How old was your child when diagnosed?​
A: Molly was 4 when she was diagnosed.

Q: What would you say have been Molly’s greatest triumphs?
A: Molly continues to amaze our family. She uses a Nova Chat during play to express her wants to us. We couldn’t be more pleased with how she is progressing.  She is working on making choices from a set of three objects.  Molly has always struggled with her fine motor skills so it’s been a challenging getting her to use her finger to select the correct picture, but we are slowly getting there. Her school has totally embraced the communication device and has offered to send her special ed teacher to training as well. This is a work in progress, but we are so impressed by how much she wants to share with us!

Q: What would you say are your principal challenges with your child? How has that changed since you first shared your story?
A: The biggest challenge with Molly is trying to figure out what she wants and needs since she is nonverbal.  When she gets upset it’s very frustrating to both her and me as I don’t know what it is she is upset about.  Although this is very difficult for all parties, this is a welcome change. When Molly was younger she was very content with everything.  As she’s aged, she’s becoming more aware of her surrounding and craves attention like any child.

Molly the cover girl--

Molly the Kosair Kid cover girl

Q: What advice would you give to a parent whose child is newly diagnosed with KCNQ2-related epilepsy?​
A: Get support and information early and often!  The Facebook page is a great way to keep in touch with other families.  I really enjoy bouncing ideas off of other parents.

Q: We can’t help but be a little jealous of Molly’s new digs. Can you tell us the story of her magical playhouse?
A: Molly was fortunate enough to be awarded the Kosair Charities playhouse.  Each year Kosair Charities partners with YouthBuild of Louisville and custom builds two playhouses for two special kids in need.  There is an application process which includes letter of recommendations collected from therapists and doctors that include how a custom built playhouse would assist in the child’s needs.

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A place to play and imagine

See WLKY news coverage of Molly’s playhouse arriving at her house.

Molly’s playhouse is a special place she can go to spend time with her siblings and friends where she can just be a kid.  As Molly has aged, Chris and I find it difficult to integrate Molly’s likes into activities that she and her siblings can do together since her needs are so great and her lack of mobility makes it hard for her to be active. Molly’s playhouse has a TV, DVD player, puzzles, dress up clothes, a book nook, bubbles, mirrors, anything a 6-year-old would want–all in our backyard.

What’s your child’s KCNQ2 story? Share it here to help raise awareness of KCNQ2-related epilepsy.

Molly’s original story

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On July 30, 2009, Molly was born at Baptist East Hospital in Louisville, Kentucky. Molly was breech, so she was delivered via a very uneventful, standard Caesarean birth. Initially, Molly seemed a perfect 7lb, 21 inch bouncing baby girl, and we were overjoyed with our now family of five.

During her first night, Molly became very sleepy and lost interest in breastfeeding. On the 31st, she started shaking, but the nurses thought it was just low blood sugar because she was not eating well.  Around Noon that day, Molly had her first documented seizure and was immediately transferred downtown to Kosair Children’s Hospital. Her labs, MRI and CAT scan all came back normal, but the seizures didn’t stop.

A regimen of Phenobarbital, Keppra and Dilantin was started, but the seizures kept coming.
Molly spent nearly a month highly sedated from the medication and on a feeding tube in the Kosair NICU while the doctors tried everything they could to get the seizures under control.  Some days were better than others, but the wonderful, caring people we met during our stay at Kosair helped us every step of the way and has become a phenomenal network.

Molly finally got to come home September 3, 2009, with a diagnosis of KCNQ2 mutation, with the hope that her seizures would stop and she would develop normally. The first six months of Molly’s life were spent in and out of Kosair trying to control the seizures.  Molly’s EEGs continued to show seizure activity, so her neurologist weaned her off Dilantin and Keppra and started the medication Trileptal.

When Molly began having delays in her development, her neurologist and geneticist started looking into other genetic mutations because most children in 2009 and before that were diagnosed with the KCNQ2 mutation did not exhibit the delays she was presenting.

We started seeing other specialists outside of Kentucky and visited The Cleveland Clinic where the neurologist we met with discounted the KCNQ2 mutation as well and tested Molly for other mutations and syndromes. This continued until the fall of 2013 when we decided to receive gene-sequencing test on Molly, my husband Chris and myself.  The results came back in May 2014, with de novo KCNQ2 mutation only.  After additional research, our neurologist confirmed that there are more severe cases that present with significant developmental delays. That very afternoon we found a new support group in Jack’s Army!

Molly continues to get therapy both at Harmony Elementary and The Kids Center in Louisville, Kentucky.  She continues to struggle with feeding, but can eat a mashed/puréed diet.  She is not verbal or mobile.  She has cortical visual impairment and has had surgery for her strabismus.

Molly is a beautiful addition to our family.  Without her presence, I wouldn’t have met some of the most wonderful nurses, doctors, therapists, special education teachers and special needs parents in the world. Along with our family and friends, these individuals are truly are lifeline and support.

Molly allows me to see the ability in her disabilities every day, and I thank God for that gift.

KCNQ2 wins at the Toronto TIFF kids film festival

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McIntyre says “these kids’ lives matter”

What does life with KCNQ2-related epilepsy look like?

To a researcher, it’s a miscoded ion channel in the brain. For a neonatal doctor or epileptologist, it might look like a chaotic EEG you must explain to anguished parents. Ask those parents what life with KCNQ2-related epilepsy looks like, and you’ll get a thousand answers–and even more questions.

But what does KCNQ2-related epilepsy look like through the eyes of a sibling?

“Owen and Rhys are as typical as any brothers can be,” says mom Natalie. “They love each other and are best friends.”

Nine-year-old Owen McIntyre has shown the world. His short film, “My Life with My Brother Rhys,” was selected as a finalist and was screened on April 24 at the 2016 TIFF kids International Film Festival in Toronto. Owen was also one of three kids up for the “filmpossible” award offered through Holland Bloorview Kids Rehabilitation Hospital in Toronto. Rhys has KCNQ2 encephalopathy.

“I want to make people understand what this gene mutation is about. That’s what I care about,” says the first-time filmmaker. “I want people to feel—to know that these kids’ lives matter.”

 

Big night

Owen accomplished that goal last night just by participating in the event. But even more exciting, the film won the filmpossible award, plus a trophy and $500! His mom Natalie Boese says that after accepting his prize, Owen returned to his seat “very emotional and had tears of joy.”

“I’m happy!” says Owen.  “I feel lucky that I won this award because I am helping out Jack’s Army and all of Rhys’ KCNQ2 army. I am going to keep making movies to spread more information about KCNQ2.”

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Owen accepts his award on stage, with Rhys’s image beaming overhead.

“We would like to congratulate Owen McIntyre on winning the filmpossible award,” said Stewart Wong, vice president, communications, marketing and advocacy for Holland Bloorview. “Our Children’s Advisory Council selected the winner, and many of the members said they could relate to the sibling relationship and thought Owen did a great job providing insight into his and his family’s day-to-day life.”

When asked how she felt watching her boys last night, Natalie said, “Owen was up on stage at TIFF supporting his little brother in the best way he knew how. Rhys is always there pushing Owen to think differently and creates continued compassion, compassion in a way that may have never been explored had Rhys not been born.”

Desire to make a difference

Owen’s film grew out of a school project undertaken by the fourth graders at his school. For his topic, Owen chose to learn all he could about the KCNQ2-related epilepsy that affects his brother, and by extension, his own life.

Toronto’s CBC's Metro Morning radio show host interviewed the young producer/director and mom Natalie.

Toronto’s CBC’s Metro Morning radio show host interviewed the young producer/director and his mom.

For the assignment, the students had to research their topic and conduct an interview. Owen found www.KCNQ2.org and called to talk with Mike Pribaz, The Jack Pribaz Foundation (aka “Jack’s Army”) president and Jack’s dad. Mike remembers Owen’s “very young but very confident” voice on the phone last fall.

“Owen is exactly the kind of brother that KCNQ2 kids need,” Mike says. “He is thoughtful and invested in the future of his own brother as well as the future of all these kids. We need professionals and parents to spread awareness, but it is amazing to see such a bright young man do the same.”

 

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“Bring visibility to disability”

Owen notices the looks that his brother gets from strangers. “When people see kids with disabilities their jaw drops when they don’t understand. I want people to understand,” he says. “I want people to smile normally.”

Anyone who watches Owen’s film can’t help but smile. It invites viewers to share a day of his life with a KCNQ2 sibling. While Rhys’s challenges are apparent, the film celebrates Rhys and radiates the love between brothers with tenderness and humor.

That’s exactly what the film festival is looking to accomplish. “Holland Bloorview Kids Rehabilitation Hospital is excited to partner with TIFF Kids International Film Festival this year to present our fifth annual filmpossible award, which recognizes young filmmakers who bring visibility to disability,” says Wong. “All of the filmpossible finalists this year did an amazing job giving us a window into their lives and helping us experience what they see and hear and feel every day. By sharing their joys and struggles, these very talented young filmmakers are helping to break down stereotypes and encourage compassion and understanding.”

“I want people to feel—to know that these kids’ lives matter.”–O.M.

Perhaps Owen gets his eye for beautiful images from his mom, who had this to say about her boys:

“We believed at first Rhys was at first our little turtle, slow and steady and coming along. As he grew up he became our unicorn, even compared to his KCNQ2 friends he is so unique– no one has the same gene sequence as he. He is as special and beautiful as they come. Both of my boys make me proud every day because of the way they view life, not so much in the awards and milestones they achieve.”

Specialness of siblings

Brothers sharing a good laugh.

Brothers sharing a good laugh.

Owen believes that being Rhys’ sibling puts him in a unique position, in some ways closer to Rhys than anyone else. “Parents don’t understand as much as siblings do,” Owen says. “Siblings have a connection.” He explained that being Rhys’s brother means he naturally treats him as an equal.

Although he admits they don’t quite fight like brothers usually do (“the gene mutation sort of pauses that,” he explains), he knows that his brother is engaged with him and has opinions and preferences all his own. Owen says Rhys definitely “has something to say back!”

Wrestling with big questions

Mcintyre bros in carOwen faces down some profound questions when he thinks about his brother’s future. He understands that science takes time, maybe a long time, to come up with the kind of treatment that will help Rhys. He’s “not so happy” about that.

But he also knows that there are people helping. And he wants to be one of them. He hopes his film will move people to learn more about KCNQ2. “You’ve got to care,” he says. “You’ve got to feel it.”

Click here to donate to The Jack Pribaz Foundation. Help raise awareness and fund research to help kids like Rhys all over the world.

 

 

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.

Into the Epilepsiome: An interview with Dr. Ingo Helbig

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By all accounts, KCNQ2 is getting serious attention. On New Year’s Eve 2015, Dr. Ingo Helbig, one of the authors of the blog Beyond the Ion Channel, recapped his top ten posts for the year (hopefully while wearing a party hat and sipping a little bubbly). KCNQ2 came in at #10, and he wrote that KCNQ2 “may be the most common genetic cause of neonatal epileptic encephalopathies.” For any family who has ever felt alone with a KCNQ2 diagnosis, that’s a pretty incredible thing to read. It spurred me to ask for Dr. Helbig’s perspective for KCNQ2 Perspectives, and he has graciously obliged.

 

You have invented this new term, Epilepsiome. Please tell us what the Epilepsiome is and how researchers and clinicians can use it.

The Epilepsiome is the community-based gene curation effort of the epilepsy world. Basically, the Epilepsiome project aims to review and curate data on all relevant epilepsy genes, especially involving scientists and clinicians who work on the particular genes. The goal is to provide you with an up-to-date overview that will then link out to the other resource such as ClinGen, ClinVar, GeneReviews, or OMIM. However, in contrast to these resources (which are used widely in genetic studies), the Epilepsiome will have a clear focus on epilepsy and will put the current findings and controversies into context. My vision was to carry some blogging atmosphere over to a gene curation project, which typically engages the community more than a static page that is only updated infrequently.

The Epilepsiome is growing. We are building expert groups for particular genes and we are very fortunate to have a dedicated group of scientists and clinicians on board to add to our gene curation. We aim to have the main genes for genetic epilepsies reviewed in 2016–and yes, there is already a KCNQ2 page maintained by some of the experts in the field that are part of your community.

In your New Year’s Eve 2015 post you wrote: “In many ways, KCNQ2 is one of our model genetic diseases, with a tightly connected group of researchers, clinicians, and patient organization. We hope that we can spin this energy into novel approaches for precision medicine soon.” Can you tell our readers what you mean by precision medicine and how the KCNQ2 community might be able to contribute to, or benefit from, it?

I knew that you would pick up on this! I must say that I am really impressed by the KCNQ2 community, which connects families, clinicians, and researchers. The vision of precision medicine is to use our knowledge of the genetic causes to find custom treatments, which may either be known medications that we did not think of yet or new compounds that were designed for specific disorders.

JPF booth at AES in Philadelphia. KCNQ2 famlies sent in #WeAreKCNQ2 videos to demonstrate their spirit and unity to the research community. Pictured: Liz Pribaz, Jim Thompson, Dr. John Millichap. View the #WeAreKCNQ2 video on our YouTube channel.

JPF booth at AES in Philadelphia. KCNQ2 families sent in #WeAreKCNQ2 videos to demonstrate their spirit and unity to the research community. Pictured: in video, baby Parker and family; Liz Pribaz, Jim Thompson, Dr. John Millichap. View the #WeAreKCNQ2 video on our YouTube channel.

We feel that this approach may be promising as we are facing two fundamental problems in many severe epilepsies. First, seizures in these epilepsies are often difficult to treat and secondly, other than controlling seizures, our treatment strategies often have little impact on the developmental outcome. Precision medicine or personalized medicine aims to identify the cause of the epilepsy first. For patients with KCNQ2 encephalopathy, this is often a mutation that renders the potassium channel non-functional. The idea of precision medicine is to find model systems that replicate this defect and then systematically search for compounds that may correct it. A closely-knit community as the KCNQ2 community will be required to make sure that future treatment options can quickly be translated to clinical trials. Many people underestimate the efforts of finding patients with rare diseases for trials, and I feel that having the community organized is a prerequisite for this.

A closely-knit community as the KCNQ2 community will be required to make sure that future treatment options can quickly be translated to clinical trials.–IH

 

For parents of children suffering seizures and other effects of a genetic mutation, no science can ever move fast enough to find a cure or better treatment. What does that timeline for precision medicine advances look like?

Unfortunately, it is difficult to provide timelines for this. In many aspects, we are still not at the stage yet where generating model systems and testing of a wide range of possible candidate drugs is a predictable pipeline. Having said this, there is considerable effort dedicated towards finding therapies for patients with ion channel diseases.

There is one additional aspect to treatment of genetic epilepsies that I would like to mention at this point. You mentioned the word “cure.” While both families and clinicians often expect the scientific community to come up with game-changing interventions that significantly alter the course of the disease, a different strategy is to systematically focus on exploiting small gains in the field.

Take the pediatric leukemia field as an example. Even though many individual chemotherapy and radiation therapies have increased survival, it was only the thoughtful combination of therapies and systematic adaptation of protocols based on prior experience that has led to the significant increase in cure rates that we see today. Translating this to genetic epilepsies, I feel that we already can learn a lot from existing experience, but access to that data, how best to aggregate it while protecting patient privacy, and the possibility to mine this information are major issues.

 

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Until recently, public discussion of scientific ideas was the purview of peer reviewed articles and books. The internet, and especially blogs like Beyond the Ion Channel, have created new space for sharing ideas and debate. As a scientist-blogger, what do you see as the benefits and risks of these new public platforms?

Basically, these public platforms serve as the communication backbone of communities that are not represented in the traditional publishing format. The main benefit of these platforms is that they provide a “running commentary” on what is happening in the area; they help put novel and existing information into context. I have always felt that we are piecing together the puzzle of an ongoing mystery, the genetic architecture of a disease. And we are trying not only to look at whether the pieces fit, but also to present the bigger picture on what they contribute. Another big advantage of these platforms is the fact that they are updated regularly in small increments as they follow the rhythm of social media. This is different to the traditional format where only the final product is presented. Through these platforms, we are able to follow the thought process and generation of ideas, which gives us the possibility to interact and contribute. Finally, I have also felt the effects of blogging personally. It is a way for me to clear my mind and experiment with novel ideas. It’s the thing that keeps me up at 3AM.

With regards to risks, especially for online platforms that develop a certain authority in a healthcare-related area such as the rare disease space, you have to be very careful that the information on treatment and prognosis that you provide is solid and agreed upon by the community. We are currently in the process of adding a “Personalized Medicine” subsection for our gene reviews and have the discussion in the community on what constitutes reliable information that can be displayed in this section. This is particularly difficult given the publication lag in this field–there is much knowledge and experience in the community that is unpublished and representing this adequately remains a challenge.

 

How did you first become interested in the study of genetic epilepsies?

During my medical doctoral thesis in Heidelberg, Germany, I worked on neuronal gap junctions or “electrical synapses,” direct cell-to-cell connections between neurons. This type of communication between nerve cells had been forgotten for a long time, but was rediscovered in the early 2000s, and we characterized the proteins that were involved. At one point, we speculated that mice deficient in one of the critical proteins called Connexin 36 may have a reduced threshold for seizures, as this protein was thought to enhance the connection between so-called inhibitory cells (neurons that are typically involved in reducing the activity of other neurons).

We could not validate this hypothesis and actually found the opposite. We also tried to assess whether variants in this gene may predispose to epilepsy, but there was nothing to be found. Independent of my disappointment, this started my interest in genes that predispose to epilepsy and also left me with a fundamental skepticism of falling in love with any particular hypothesis too much. On our blog, I am often referring to the power of team science and hypothesis-free approaches in genetics, which is somewhat a reference to my earlier disappointments.

Independent of my disappointment, this started my interest in genes that predispose to epilepsy and also left me with a fundamental skepticism of falling in love with any particular hypothesis too much.–IH

My other “key moment” happened during a trip to Australia when I interviewed for positions in various fields, some of which did not include epilepsy at all. As I mentioned in a post last year, I was sitting in a rock pool at Red Johanna Beach in Victoria, Australia, reading Nigel Tan’s “The truth is out there,” a 2004 review on the state of association studies in epilepsy. The writing style and big picture view of his review made me realize that epilepsy genetics is something that I might actually be interested in. I typically publish a post “Red Johanna Day” every year, which I consider my birthday in epilepsy genetics.

These two stories were my early beginnings. In retrospect, I think it is interesting how my strong clinical interest in genetic epilepsies was born out of a primarily scientific interest. The clinical part was something that I learned and became fully invested in while getting involved in patient care. To me, being a clinician and a scientist is an interesting combination that allows me have both the care of the individual patient and the larger picture in mind.

Have you registered your child or patient in the KCNQ2 patient registry? Access RIKEE here to help the KCNQ2 community.

 

Dr. Ingo Helbig

Dr. Ingo Helbig

Ingo Helbig, MD, is a member of the Genetics Commission of the International League Against Epilepsy (ILAE) and epilepsy genetics researcher. Ingo trained as a pediatrician and child neurologist at the Department of Neuropediatrics, Kiel, Germany, and is currently a child neurology fellow in the Division of Neurology at the Children’s Hospital of Philadelphia. His research group has contributed to many of the recent gene finding in human epilepsies. Ingo blogs about epilepsy and genes on Beyond the Ion Channel.

How RIKEE helped treat a KCNQ2 patient

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Photograph courtesy of the Arkansas Children’s Hospital

Building a collaborative network

It’s a two-way street. The Rational Intervention for KCNQ2 Epileptic Encephalopathy (RIKEE) patient registry both provides valuable information and accepts the input of new data from volunteers, creating a powerful collaborative resource to help families, physicians, and researchers. Just ask Dr. Sarah Mulkey. Dr. Mulkey is an Assistant Professor in the Department of Pediatrics, Section of Neurology, at the University of Arkansas for Medical Sciences. She was caring for a newborn whose clinical presentation was like none she’d seen before, and RIKEE came to the rescue. The parents of Dr. Mulkey’s young patient later agreed to have their child participate in the RIKEE registry, a decision that set in motion a detailed reexamination of the histories of patients with similar stories diagnosed around the world.

Thank you, Dr. Mulkey, for sharing your insights with KCNQ2 Perspectives.

 

Searching for answers

Just after birth, a baby was having movements that looked like seizures. The infant was brought to our neonatal intensive care unit, where I work as a neonatal neurologist. The baby appeared ill, but brain imaging did not reveal a reason. Although the brain wave test (or EEG) was far from normal, it showed that the baby’s movements were not caused by seizures–in fact I could find no real seizures at all. This was a highly unusual pattern. Although I suspected there might be an underlying genetic cause for the baby’s illness, the combination of symptoms and test results was different from any patient that I had previously encountered. I decided to email Dr. Phillip Pearl in Boston, a renown expert in genetic metabolic epilepsy in children, to seek his advice.

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Learn all about RIKEE and how to get involved at www.rikee.org

Suspecting a genetic-related epilepsy and possibly KCNQ2, Dr. Pearl put me in contact with neurologists Dr. Ed Cooper in Houston and Dr. Roberta Cilio in San Francisco. Genetic testing indeed revealed a KCNQ2 variant. The RIKEE database also informed us that there were several other families and treating physicians participating in research that had referred children with the very same variant as found in my patient. As permitted under the RIKEE research protocol, we contacted all the treating physicians and all agreed to form a new, international collaborative team. Although the research is ongoing, overall we have learned that the patients have many similarities with each other and are different in important respects from patients with some other KCNQ2 variants. We believe this new understanding will help us design new treatment strategies, which in this instance would be tailored to not only to KCNQ2, but to an individual KCNQ2 variant.

 

“…it is important to build such networks of colleagues for rare illnesses so that we can combine our knowledge…” –SM

Only the existence of the RIKEE database and its contributing network of families, scientists and physicians allowed me to gain a real understanding of my patient’s situation. This experience showed me that it is important to build such networks of colleagues for rare illnesses so that we can combine our knowledge and advance science to provide the best care.

Adding to the registry

I also recently took care of another newborn whose history fit with the definition of benign familial neonatal epilepsy (BFNE). Like most other babies with BFNE, my patient had neonatal seizures that were easily controlled with medicine, and the baby showed normal developmental progress.  Because KCNQ2 variants are the most frequent cause of BFNE, it was not a great surprise when testing revealed a KCNQ2 variant. Based on research conducted by the RIKEE team, Dr. Cooper explained that, because of the location of the variant within KCNQ2, additional specialized genetic testing might be warranted. I contacted the genetic testing service and requested the additional analysis be performed, leading to a revised diagnosis. This provides another example of how the RIKEE database can increase understanding of these variants and improve care for individuals and their families.

Sharing what we learn

As a result of this fruitful collaboration, Dr. Cooper invited me to attend the KCNQ2 investigators’ meeting at AES (read a recap of that meeting in the Q2 News). I was able to share my experience in caring for these patients with other researchers that are working on different aspects of KCNQ2. It was inspiring to spend a day with other dedicated clinicians and neuroscientists focused in KCNQ2-related epilepsy research. I believe it is multi-disciplinary collaborations like this that will be able to make pivotal discoveries and improve the lives of patients with genetic epilepsies. I look forward to continuing these team efforts on KCNQ2.

 

Register in RIKEE to advance KCNQ2 research and speed the path to better treatments.

 

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Sarah Mulkey, MD, PhD, graduated with her medical degree at the Florida State University College of Medicine and completed her child neurology residency training at the University of Arkansas for Medical Sciences. She focuses her clinical work on caring for newborns with different types of neurologic conditions. She has a PhD in clinical research and works to find treatments for newborn brain injury and improve neurologic outcomes for babies. Outside of work, she keeps busy with her three young children ages 2, 4, and 7.