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.
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.
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.
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 Roundtablepromises to be your best long weekend getaway of the year! And if you like to golf, well that’s just icing on the cake.
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.
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!”
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.
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.
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.
Dr. Millichap is an attending physician in the Neurology and Epilepsy Center at the Ann and Robert H. Lurie Children’s Hospital in Chicago and Assistant Professor of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine. The Jack Pribaz Foundation chose Dr. Millichap to receive the award for his dedication to bridging bench science and clinical application and for his contributions to the medical literature.
“At the heart of any pediatric medical research there is always a family who needs a champion to fight for their child,” said Mike Pribaz, President of the Foundation and one of the directors of the Board. “We are proud to honor Dr. Millichap with this award for his efforts to identify new patients with KCNQ2 mutations and to educate the medical community throughout the world about this rare condition. Dr. Millichap is a champion for the entire KCNQ2 family and the larger community of pediatric neurology.”
Liz Pribaz presents Dr. John Millichap with the first ever Sophie Award for Young KCNQ2 Investigators on January 23, 2016, at Lurie Childrens’ Hospital in Chicago. Mike Pribaz and son Jack hand off the big check.
“I accept this award with pride and a sense of excitement,” said Dr. Millichap. “It’s amazing to see how far we’ve come in such a short time. There’s tremendous momentum in this field of study and a vibrant international community of researchers and patient advocates to work with.”
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 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.
Life 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.
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.
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.
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.
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.
Wouldn’t it be great to better understand the relationship between daily activity, sleep, emotional state, medication adherence, and epilepsy symptoms? Empatica’s new smartwatch, the Embrace, may be a useful tool in connecting those dots.
In our most recent issue of the Q2 News, Dr. John Millichap discussed the scientific background of the new technology. Read all about it here. The Embrace Alert System (Embrace watch and Alert app) detects and alerts to convulsive seizures, and a new clinical trial on the long-term effectiveness of this system will soon be underway.
Empatica announced approval of their clinical trial “Embrace Seizure Characterization” on May 11, 2016.
Hundreds of people received a free Embrace smartwatch thanks to the Epilepsy Foundation’s sponsorship and a give-one-get-one campaign. Kurt Florian, President and CEO of the Epilepsy Foundation of Greater Chicago, tells us that his organization helped about 50 families from Chicagoland apply for a free Embrace watch. My nephew Jack is in line to get one of them (thanks, EFGC!). The Epilepsy Foundation stopped taking applications March 27 of this year.
So if you still want an Embrace smartwatch, how can you get one?
To answer practical questions like this, I called on Empatica’s own David Bender, our “booth neighbor” for five days at the AES conference in Philadelphia. He was kind enough to answer some questions for us:
If a family missed the chance to get a free watch, how can they still get one?
The watch is still only available for pre-order at this time. Our production schedule is still ramping up to meet existing demand which we’re hoping to do by September 2016. We have validated the hardware design in preliminary usability studies this Spring with several hundred families and adults and were able to move ahead with the mass-production phase, meaning that the devices are now starting to ship.
Will there be any future opportunities to apply for a free Embrace?
We are incredibly grateful for the initial support of our Indiegogo crowd funders who sponsored give-one-get-one packages, which lead to 1540 donated devices that are being distributed in collaboration with the Epilepsy Foundation. At the moment our focus is on meeting the release schedules, and we do not have any current sponsors for free Embraces. We anticipate that once all back-orders are shipped and Embrace is in stock we’ll be in a good position to support more sponsorship programs. We’re also trying to keep the price of the system low (under $200) which we hope is affordable for most families until insurance reimbursement models are in place.
How can families enroll in the clinical trial?
Any individual who is scheduled to receive an Embrace watch will receive an invitation to enroll in the clinical trial through their Empatica Account. The enrollment process involves a screening (for example, we’re only enrolling US residents who are fluent in English and are not pregnant or planning to become pregnant at this time) as well as an informed consent review which families should review and ask questions about if there is anything unclear. Once informed consent is established the family can install the Empatica Alert app. Folks who do not wish to enroll can still use Embrace without the Alert app for the quantified self functionality (Empatica Mate app has sleep, autonomic stress, and activity reports, med reminders, and can be used as a context-rich seizure diary). For folks who are outside the US we’re working on a separate regulatory strategy for each region. We will make more announcements in the future so please stay tuned! For more info on the US trial please see our Embrace support pages: https://support.empatica.com/hc/en-us/categories/200310325-Embrace-watch
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.