Jack with State Senators Don Harmon and Kwame Raoul at the Ann and Robert H Lurie Children’s Hospital of Chicago on Friday to celebrate the new KCNQ2 Awareness week in Illinois.
Friday night, March 2, 2018, at the Ann and Robert H. Lurie Children’s Hospital of Chicago saw a memorable gathering of doctors, lawmakers, scientists, parents, siblings and children affected by KCNQ2-related epilepsy.
Spreading KCNQ2 awareness is important to me –Rick Terven
On that day, the State of Illinois gave the KCNQ2 community a sense of hope with the passing of a resolution that designates the first week of March as KCNQ2 Awareness Week. This recognition is the latest exciting step that adds to our efforts to bring attention and resources to the fight against KCNQ2-related epilepsy.
“Spreading KCNQ2 awareness is important to me, because there are ways to improve the outcomes for many children with neonatal onset epilepsy disorders,” says Rick Terven, dad of one-year-old Amelia who has KCNQ2-related epilepsy.
“We can help children in those critical first few months to get diagnosed and properly treated much quicker than is currently happening in many instances.” It was through the efforts of Rick and Michelle Terven that this resolution was passed. A huge thanks to them!
All had the chance to speak with the doctors and scientists who are constantly pushing forward in this field. The families visited with each other and the siblings played together. At the end of the day, we all had a little more hope than we did before.
Pediatric epileptologist Dr. John Millichap, who was in attendance at Friday’s festivities, says, “Public awareness of KCNQ2 encephalopathy is important for many reasons. I would like to emphasize that physicians caring for young children with unexplained seizures should consider genetic testing early since a positive result can lead to specific options for treatment and prevention of sequelae.”
What a fantastic event for the families of these beautiful children. What started out as a few isolated cases has grown into a global crusade to help these kids win this war.
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.
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.
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.
It wasn’t the job he wanted, but it was the job he got.
When my brother Mike was 16 years old he sold subscriptions to the Boca News in the mall while wearing a pink flamingo costume. It was a hot pink plush thing that bubbled around his body—so cozy to wear in the South Florida heat, especially with the coordinating black tights that completed the ensemble.
But he did it because it was his job. He absorbed the pain of his situation—the sweaty physical discomfort, the social awkwardness among his peers (who thankfully couldn’t see his face through the huge beaked mask), the psychological distress. The pink flamingo stood tall. He learned perseverance, and he learned how not to take himself too seriously.
As an expectant father Mike had feared diapers. Many dads do. But when his son finally made it home from the hospital, Mike found himself not only changing diapers, but weighing and testing dirty ones, logging physiological details most parents don’t even think about, and holding his baby down to give him injections.
These were certainly not jobs he wanted. But he did them.
Jack, now seven years old, has suffered from seizures since hours after his birth. He has KCNQ2-related epilepsy, a rare genetic form of the disease that causes seizures, low muscle tone, and developmental delays. But no one knew that at first. For three long years doctors were perplexed about what was causing Jack’s troubles. Test after horrible test came back negative. It was Mike who kept us all buoyed up. We hung onto his sense of humor as if it were a life raft. “I’ll be okay as long as Mike can keep me laughing,” I remember my sister-in-law Liz saying between tears in a waiting room.
I know that wasn’t a job he wanted either. I know he didn’t want to have to be that funny guy, probably didn’t even think he could be. I’ve seen him down, too. I’ve seen him literally on the floor. The night after Jack was born and the nurse took Jack away to the NICU, Mike told me he slipped out of Liz’s recovery room after she finally fell asleep. He had a pain in his chest; he was afraid he was having a heart attack. He left Liz so that if he went down she wouldn’t have to be the one to find him.
On the day doctors told us that Jack might not live to see his first birthday, we stepped out of the hospital to get some air. Jack was about five weeks old. It was springtime and the Chicago snows were melting into slushy pools, swirling with debris and rainbows of oil. Mike’s weird humor came to the rescue yet again: “I’d get a giant straw, pull up a folding chair, and drink that whole puddle in one sitting if it would make Jack better,” he said.
Which is to say, he’d do whatever it takes to help his boy.
When the KCNQ2 diagnosis finally came, virtually zero information came with it. It was too new. There were no other cases in the literature for the doctors and nothing for us common folk on the internet. Mike and Liz felt very isolated, but doctors assured them that others had to be out there. With genetic testing becoming more available, Jack would not be alone for long.
So Mike and Liz started this foundation. They didn’t want any other family to have to go through that kind of isolation and fear. And they sure were looking for some company.
Sometimes you gotta do what you gotta do.
Now there are hundreds of other known KCNQ2-related cases and Jack has buddies
all over the world. Through the web and social media, the families lean on each other, share their stories, and lift each other up. The foundation is gaining strength in research dollars, partnerships, networking, and support. And scientists are making progress that they believe can help the greater epilepsy community.
This–all this extra special work–is not a job my brother wanted. He’s a high school history teacher, a coach, and a recovering diaper-phobic. He has also become a courageous, strong, and loving dad. Jack has a younger brother, and the two boys keep Mike very busy. I look at him sometimes and wonder how he does it. Of course Liz is a big part of it. But I think about the summer he was a pink flamingo and I wonder: maybe the things we would never eagerly choose in life prepare us for a future we cannot imagine.
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.
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 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.
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
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.
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.”
“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.”
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.”
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.”
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.”
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.
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
Owen 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.”