KCNQ2 Journeys

KCNQ2 Journeys

Sepp’s Story

connections, KCNQ2, KCNQ2 Journeys
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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.




Gillian’s Story: So much to teach the world

Tags: connections, KCNQ2, KCNQ2, KCNQ2 Journeys
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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.


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

advocacy, connections, KCNQ2, KCNQ2 Journeys
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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.

Oliver’s Story: an Update

Tags: KCNQ2, KCNQ2 Journeys, research
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Warm thanks to Tanya and John for sending this update to their son Oliver’s story, which first appeared many moons ago on the original Jack’s Army website and which now resides in the KCNQ2.org Stories section. It is so helpful to be able to revisit the “vintage” stories, celebrate progress, and learn from challenges. Sharing stories is a powerful way the entire KCNQ2 community can lift one another up and enlighten researchers and clinicians about the daily realities of living with KCNQ2-related epilepsy.

Our sweet little Oliver is now four years old, two and a half years after diagnosis of KCNQ2 at the age of 17 months. On the whole, Oliver is non-verbal; however, he teaches us how to communicate with him on a daily basis, such as using his eyes and his hands when he wants something!

Physically he is doing an awesome job. He can run, jump, and climb. However, he does tend to walk on all fours, which is a typical autistic trait.

Currently he attends a special school with two to three other children in his class. He goes there one day per week.  He also attends a mainstream Kindy five days a fortnight. There he has his own special needs assistant looking after him. He certainly keeps her on her toes! The children have been taught about autism and his epilepsy. This was brought on by Oliver and his love for opening doors and gates. His way of communicating is taking your hand (any hand, even a complete stranger’s!) and leading you to where and what he wants. Because this was becoming an issue, we sent out letters to other parents in the school group (about 20 in all) about autism and KCNQ2. We have been given positive feedback. One person has even asked about more information, which is very exciting.

“Our KCNQ2 community is built on friendship, common goals, and empathy.” –TG and JG

Since Oliver’s diagnosis, things have been on the move. Sometimes up, sometimes down. On the seizure front, he has had 3 seizures in the past 3 years. Not bad, but one seizure is one too many. We were weaning his main AED [anti-epileptic drug] just recently. After two days of completely being off it, he had a seven-minute seizure. After advice from his neurologist, we restarted the medicine. That has been disappointing as we wanted to see what his personality and cognitive development would be affected without any.

Oliver at restaurant

He is also been receiving additional therapies such as speech and occupational therapy. They are slowly making inroads with his communication skills.

Oliver is also doing great with his personal care. A couple of years ago, the thought of having his hair washed was exhausting.  Now he loves the water and having his hair washed is a lot easier! At times he can help getting dressed. We need to help him a lot, but it is a step in the right direction.

I think parents need to listen to other parents about KCNQ2. Tell us your story. Every time I tell Oliver’s story to friends, doctors, etc, I feel as though I am educating them through our experiences. Unfortunately there isn’t a lot known about it in general medical circles. Education is all about experiences. For example, when Oliver was brought in to the emergency department after his last seizure, an emergency consultant asked what it was! Unfortunately, this is a reoccurring theme.

The other thing I would suggest is collaboration is the key. Talk to all of your child’s healthcare providers so they can collaborate the best that they can for your child.

RIKEE is a KCNQ2-specific patient registry that is powering international research on this condition. Join the effort! Register your child or patient in RIKEE.

The most important thing is to hug and love your child. Our KCNQ2 community is built on friendship, common goals, and empathy. We are the only ones in the world that exactly know what you are going through. Never be afraid to ask or share. We are here for our children and our community.

Read about John’s KCNQ2 Journey with BFNE published here in February.

Oliver’s original story

oliver_300x300Oliver was born in February 2012 through an elective caesarean section. On day two of life, while he was breast feeding, Oliver broke attachment and started staring and all four limbs were twitching. The next day, he had two tonic clonic seizures lasting about 45 secs each time. He was then transferred into the hospital’s special care nursery. There he had numerous tests including a lumbar puncture, MRI, ultrasounds and many blood tests. All of these tests came back normal. A week later, he was transferred to a larger hospital for extensive and specialised testing, including a few EEG’s.

Over the next couple of months he had numerous hospital admissions due to increase seizure activity and the inability of his medications to keep up with them. After his scheduled four-month vaccinations, he had his longest seizures to date. A seven-minute seizure at home, an eight-minute seizure at hospital, then had a 45-minute status and transferred to the Intensive Care Unit. It was after that enormous seizure that his neurologist decided to do genetic testing. After a couple of days, he was fine and sent home.

Over the next four to six months, his hospital admissions due to seizure activity were getting less. However, he was not putting on any weight, his appetite decreased, and it got to a stage where his output was getting less and less. His doctor decided to do some blood tests. His electrolytes were at a critical level and with consultation with a metabolic doctor, decided it was his current anti-epileptic drug was the root cause of this. We changed medications immediately.

In July 2013, we discovered that Oliver was diagnosed with the KCNQ2 gene mutation, the cause of his epilepsy. Through the internet, we have discovered many families that are affected by this and have been a tower of strength for all of us.

At 22 months of age, he had been seizure free for 10 months and is physically growing well. Developmentally he is quite behind children of a similar age. He started walking at 19 months of age. Still quite non-verbal, and it is like he is in his own little world. He has had a recent diagnosis of autism; fortunately, he is on the lower end of the spectrum. He receives regular physical therapies through occupational therapists, physiotherapists and speech pathologists. Because there isn’t much known about KCNQ2, the doctors are learning as we are learning. We continue to support his needs and whatever he requires. We take it day by day and try to live life as best we can.

Share your KCNQ2 journey here to help raise awareness of KCNQ2-related epilepsy.

John’s Story: KCNQ2 complexities

KCNQ2, KCNQ2, KCNQ2 Journeys, research
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KCNQ2 in the family

Sheila M. sent us the story of her son John, a three-year-old with an inherited KCNQ2 mutation. We thank her for sharing her family’s journey, which highlights how complex KCNQ2 epilepsy is—reflecting a complicated set of genetic and environmental factors that can result in different outcomes, even among family members with the same variant. By sharing stories and registering in the RIKEE patient registry, parents can equip researchers to better study these complexities.

John was born November 16, 2012. At 36 hours of life and at home (we had been released from the hospital) John began having tonic clonic seizures. He was in the NICU at the Montreal Children’s Hospital for a month and was released on four medications. At three months old he had more seizures that could not be controlled and was apneic. He was in the PICU for a month again, and released with four medications, with Phenobarbitol being one of them.

Read more about KCNQ2-related disorders–the inherited and the de novo forms.

One-month-old John

One-month-old John

After that his seizures were less frequent, febrile in nature, and closely associated with his vaccinations, but were overall controlled by medication. We were diagnosed with Benign Neonatal Familial Epilepsy (BFNE) secondary to KCQN2 genetic mutation in August of 2013. I say we because my entire family had genetic testing and my mother, my brother, my son, and myself were identified with the mutation. My father and John’s father were not.

My mother and I both experienced seizures in infancy, but given the lack of medical information at that time, we were just told that we had seizures. Eventually my mom and I were lucky enough to stop having them after about two years old.

My brother continues to be medicated for seizures, although his last seizure was three years ago. There are no known cognitive deficits for him, my mother, or me that we are aware of.

I knew I had had seizures as in infant and was terrified I would have them during pregnancy, but I hadn’t assumed my son would have a seizure disorder. In retrospect I could have pursued genetic testing prior to becoming pregnant, but I never imagined KCNQ2 existed or had knowledge of the relationship between seizure disorders and genetic mutations.​ And my doctor was a high-risk pregnancy specialist.

Did you know? In a 2015 study, 27 of 33 families with BFNE had a KCNQ2 mutation. Other implicated genes in the studied population include KCNQ3 and SCN2A.

Searching for supportive services

John is three years old now, and since he turned 18 months old we have been on a journey of heartbreaking developmental issues. It has been a tough month as our private daycare just asked us to leave because it was time to switch groups and they feel John is too developmentally delayed to be integrated with the three-year-olds.

John at one year

John at one year

At 18 months developmental delays began being investigated by doctors in the neonatology department. John has been identified with a severe speech delay, mild intellectual delay, and has a sensation seeking profile. He is also on a waiting list at the Autism clinic at the Montreal Children’s Hospital.

How are epilepsy and autism related, if at all? Two articles, here and here, describe the complexities and controversies of research in this area.

Privately we have spent our money on speech therapy since last January. Recently we have had a social worker through the centre local de services communautaires, or local community service centre (CLSC) and an occupational therapist who works with our son weekly. In addition, we are set to begin to receive services at the Mackay Center weekly beginning in January.

My husband and I both have to work full time and we spent more than a month searching for childcare. We were even rejected by a renown special needs pre-school as our son was identified as non-compliant and unworkable. We finally found a private daycare that is costly, and on top of the regular fee they are insisting John does additional therapy at additional cost because of his compliance issues. Unfortunately we cannot be reimbursed by insurance for that as he has no diagnosis of autism (which we do not think he has).

As challenging as his medical issues were, what we are working with now is heartbreaking, but we love our son who is a sweet, affectionate, and kind boy.


 Share your KCNQ2 journey here to help raise awareness of KCNQ2-related epilepsy.

John at play, 18 months old.

John at play, 18 months old.