I’m excited to announce that our group has made its presence known around the world. We now have KCNA2 brochures available in 10 languages and we were represented at the 2022 American Epilepsy Society conference in Nashville, Tennessee. 

We have a few events scheduled for 2023. On May 7, 2023, we have our second Global Zoom call scheduled and on August 31, 2023 (tentative date), we will host our second KCNA2 Fun Run. Please consider hosting and/or participating in these events. For more information, see "What's New with KCNA2?" in this Newsletter.

Our Nursing Corner has received several questions about administering medications. In this Newsletter, we answer the questions, “What is a port-line?” and “Do kids with KCNA2 need one?” See our Nursing Corner for details.    

In the past seven months, we have added about 22 families to our private KCNA2 Parent Support Facebook group. Three of our families are featured in this Newsletter. First, Leo Simon-Kaman is featured because his Uncle Balazs is competing in the Ironman Competition and all proceeds will go to KCNA2. Second, thirteen-year-old Matthew Harrison from Montana is featured with his wonderful family and third, we honor Naksh Jay Subramani from New Zealand. Sadly, Naksh passed away in December, 2022. Details about the above families can be found in the “Our Stories from Around the Globe” section of this Newsletter.  

As expected, this Newsletter includes featured articles and a KCNA2 Medical and Research Update. Four peer reviewed studies are included. We are still waiting to hear about the Natural History Study that many of us participated in last year. As soon as I hear new information, you will know.  

Until then, stay in touch, support us and participate in our events to spread education and awareness about KCNA2. Supporting each other is the only way we will find real answers and real hope for the future.    

The American Epilepsy Society (AES) meets annually in the United States. This year the conference was held on December 3 - 7 in Nashville, TN. KCNA2 partnered with the Rare Epilepsy Network (REN) to share a booth with a variety of other rare epilepsies. We were exposed to about 7,000 researchers, neurologists and geneticists who attended the conference. Among those attending was Dr. Ingo Helbig, MD (pictured below). Dr. Helbig is a neurologist/researcher located at Childrens Hospital of Philadelphia (CHOP). He has been a positive advocate for KCNA2 since its discovery. He visited with Nancy Musarra and Corey Huth while they staffed the REN booth.

Nancy Musarra Ph.D.

KCNA2 Mom

President and Founder of KCNA2 Epilepsy, Inc.

Nancy with her daughter, Giana.

SECOND GLOBAL ZOOM MEETING

Meet us on ZOOM, Sunday, May 7, 2023 at 5:00PM Eastern Standard Time. KCNA2 families from around the globe can join in. Look for the Zoom invite in our Facebook groups and emails. See you then!

KCNA2 GLOBAL AWARENESS DAY

Every year on August 31, 2023 we celebrate the discovery of the KCNA2 gene variation. On this date in 2012, Steffen Syrbe, M.D. and his team of researchers first identified alterations in the KCNA2 gene. By 2015, the KCNA2 gene was included in genetic testing.

KCNA2 GLOBAL AWARENESS FUN RUN

A tentative date for this year's FUN RUN will be August 27, 2023. This is second annual Global Awareness Fun Run. KCNA2 board member, Oriana Horneck initiated the first ever KCNA2 Global Awareness Fun Run on September 4, 2022. One hundred and ninety-two people participated from four countries including Italy, Panama, Switzerland and the United States. Twenty states from the U.S. were represented. The main event was in Oregon, with other members of our KCNA2 family hosted events in their areas too. Other hosts include Olena Burger, Stefanie Aulgur Olivarez, Nancy Musarra and Samantha Lloyd. Alysha Applebaum and her family traveled from California to Oregon to attend the event. Over $3,500.00 was raised.

LEO'S UNCLE HEADS UP IRONMAN FUNDRAISER

Balazs Adam Szabo has partnered with KCNA2 Epilepsy to raise money by participating in a 70.3-mile Ironman Competition in Augusta, Maine this summer. 

Balazs is the uncle of adorable four-year-old Leo Simon-Kaman who lives with his family in Budapest, Hungary. All proceeds will go directly to KCNA2 Epilepsy and to Leo’s treatment team at Fellegvar Daycare.  Please consider donating. For details, click here. See more in the 'Our Stories from Around the Globe' section of this newsletter (scroll down).

Alysha Applebaum is the Administrator for this

Facebook Group.

Click here to link

KCNA2 MEDICAL & RESEARCH UPDATE

KCNA2 research is featured below. Click on each title to read the article. Consider sharing this information with your child's treatment team to keep them updated on important KCNA2 research. For previous newsletters click here.

1. Successful medical treatment of west syndrome with a KCNA2 variant: a case report (2022)
2. A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine (2021)
3. Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (2022)
4. De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. (2015)

Quick Tips When Establishing New Care for Your Child:

1. Two weeks prior to scheduled appointment, arrive in person (if possible, otherwise email) to hand the front desk personnel organized notes or a timeline that is pertinent information concerning your child’s care. What do you want the provider to know already before your appointment? That is what your note should include. Be sure to include the KCNA2 website. This is a great way for the provider to be informed about your KCNA2 epileptic child! If you have submitted your child’s story on the website, they can read your story all before your appointment. This will save you time in explaining and educating because you already did it before the appointment.
2. One week prior to scheduled appointment, call to confirm that the provider has received your notes/timeline on your child AND has read over it to maximize efficiency and time of your appointment. 
3. The day of your scheduled appointment, bring in a copy of the notes you already gave to provider, along with any requests you have. The notes are for you to remember what you gave, as well as write down new information. Bring a pen. At the start of the appointment, ask the provider if they have any questions on the notes they read. This allows them to ask you up front and can help ensure a smooth appointment. Lastly, it sends a message to the provider that you are here to advocate for your child’s well-being. This also holds the provider accountable, while establishing appropriate patient-provider boundaries. 
4. Ask permission to record your appointment on your smart phone. Tell them this is your style of learning (auditory.) There are often distractions in an appointment (especially because your child is with you) and you cannot always remember the information given afterwards. 
5. Dress business casual if you are the parent or caregiver. In other words, present yourself like you would for a meeting where you want to make a good first impression. 
6. At the end of appointment, ask for their preferred method of communication. Phone, e-mail, health care network app, etc.? Make sure to get contact information. 
7. Leave the paper you brought of your requests with the provider so they have a visual reminder of your requests. Your requests could include; referrals, questions about therapy, genetic testing, medicine, medical notes for programs that require it, supplements you give your child, future EEGs, behavior, or information on ketogenic diet. Don’t forget to write down the KCNA2 Epilepsy website and leave it with your requests for the provider! It is important that the provider consistently sees KCNA2 Epilepsy in hopes to research it more, rather than just managing your child’s care with medicine.
8. This is your scheduled time with the provider for your child. Make use of it. Never feel rushed. Take your time. Ask every question you want! After you leave, you likely won’t be talking to the provider again until your next appointment.  

These tips come from real life experience with 13 years of moving around every 2-3 years. Every move meant it was my responsibility to take the previous information and relay it to the new providers to ensure successful communication. It also meant scheduling new appointments with neurologist, geneticist, developmental pediatricians, occupational, physical, and speech therapists, behavior psychologist and therapists. It was a lot! However, with these tips learned along the way, it was smoother. No one will advocate greater than you for your own child. Being polite and persistent is very effective. As the age old saying goes; “The squeaky wheel gets the grease.” 

McKayla Leber

KCNA2 Board Member and KCNA2 Mom

What can you say to someone who has been seizure free for months, but is now hospitalized after a break-through seizure? What can you say to someone with an intellectual disability who feels defeated and depressed as they struggle with tasks that seem so easy for others?

Sometimes it is difficult to know what to say to someone who feels like giving up because of an illness, disability or lifelong challenge. There are many situations where finding the right words to say feels impossible. Because of uncertainty, a common response to this situation is to avoid the situation, and as a result, avoid the person.  

Avoidance leads to the exclusion of that person who ends up isolated and even more discouraged. People do not avoid the situation because they are uncaring. Instead, they avoid it because they don’t know what to say and are afraid that if they say the wrong thing, they may inadvertently make the person in the situation feel even worse. 

As a parent, family or friend of someone in this type of challenging or defeating situation, finding positive words that are inclusive and empathetic is imperative. But, knowing what positive words to say that send a supportive message is sometimes difficult.  

“What can I say?”

Here are seven positive words for special needs that are inclusive and empathetic to all. 

https://www.drnancymusarra.com/7-positive-words-for-special-needs-that-are-inclusive-empathetic-to-all/

Nancy Musarra Ph.D.

(KCNA2 Mom of 25-year-old)

President and Founder of KCNA2 Epilepsy, Inc.

CLICK HERE FOR FULL ARTICLE IN EXCEPTIONAL PARENT MAGAZINE

Our Stories from Around the Globe

Matthew's Story from Helena, Montana

Life with KCNA2

 Matthew Harrison … Born October 10, 2010 in Helena Montana. Matthew’s story mirrors several others who are living with KCNA2. At birth it was known to us almost immediately that Matthew was suffering from an unknown medical condition. However nothing could really ever prepare us for the unpredictable medical journey we were about to embark on.

Matthew is now an energetic, vivacious, funny and determined 12 year old boy. He enjoys Trains, dinosaurs, cars, trucks and being outside at the lake or on a mountain to ski. He has an adventurous spirit and an unwavering determination to try new things and keep up with his friends and siblings. Matthew’s approach to life has always been to try anything and everything at least once and keep on trying, never giving up.

Matthew was diagnosed at age 7 after a very precarious beginning which started with the presence of infantile spasms at birth and the Tonic Clonic and focal seizures that appeared at age 4 months. After 3 rounds of genetic testing and years of many other types of medical tests we were given the lengthy diagnosis of KCNA2 Potassium Channel gain and loss of Function Epileptic Encephalopathy. A real mouthful huh? Matthew was unstoppable, always on the go, ready to play and interact with others until seizures would break through. Years of seizures, movement difficulties, developmental delays, sleep issues, injuries from poor mobility, managing side effects from many medications and seizure recovery have been some of life's challenges for our son. 

With much perseverance and determination, Matthew was able to stand and walk for several years. Unlike some children born with KCNA2, Matthew was able to figure out his own way of walking. At certain stages he has needed help from a walker and early on only needed a wheelchair for longer distances and difficult tourane. As Matthew has gotten older he has lost his abilities to walk and stand on his own and he has found his mobility scooting, crawling around and in a wheelchair.  

Despite a steady decline since the age of 9, Matthew continues to smile brightly and attend school and take part in adaptive outdoor activities. Managing seizure activity and medication management is a constant souffle. attending and managing frequent doctors appointments and countless therapies has been part of Matthew’s everyday life since birth.  



What Matthew has taught us in his 12 years has been immeasurable. Matthew smiles and feels with his whole body. He has an infectious and contagious laugh and lives each moment to the fullest. What we have tried desperately to provide Matthew with is the best quality of life possible with as many fun life experiences as possible. This journey has not been easy, but it is so worth it!  

Dawn Walters

KCNA2 Parent of Matthew

Naksh Jay Subramani

17 July 2018 - 22 December 2022

We would like to extend our condolences to Arun and Shelly.

If you would like to reach out to them they can be reached

via email at arun.p@me.com.

Naksh came into our world in 2018 and while there were struggles in his life, he was a naturally happy boy who enjoyed all that he could.

First and foremost, Naksh was loved. Loved and adored by parents, his grandfather, uncles, aunts, nephews and nieces and the many people in his community. He returned this love in the best ways he could with his with his smiles, laughter and the affection and recognition he could show to those closest to him.

Music was one of the great enjoyments in Naksh’s life. When he first heard Anika Moa’s Bubba songs especially, “Oma Rapeti”, his face would light up and he would turn his head towards the sound of the music.

His special songs were John Legends “You are the reason” and “you are my sunshine”

Other pleasures for Naksh were:

Going on Sunday drives with his parents and picking up KFC. I am not sure if it is a co-incidence or not but there was chicken & gravy shortage at our local KFC. It was in the news.

Naksh loved weekends away with his family going to the beach, feeding birds.

He enjoyed floating in the bathtub and especially in the spa.

Last but not the least Naksh loved his food – he was a typical Indian boy and lamb curry was a favorite. He was also a true kiwi boy and loved his fish & chips and eating his desserts as well.

Arun and Shelly

KCNA2 Parents of Naksh

https://rosetown.co.nz/tribute/naksh-jay-subramani/

Leo's Story

(USA)

My young nephew Leo, is an inspiration to many. In my case, he inspired me to compete in an Ironman – a 70.3 mile triathlon in Augusta, Maine this summer. I am competing to raise awareness around Leo’s condition; KCNA2 Epilepsy, a rare genetic disorder with no cure and one which currently lacks funding to start a clinical study.

Every dollar you and I raise through Ironman will help support kids and their families affected with KCNA2 globally. The funds will be used to raise awareness and purchase medical equipment, such as hospital grade rehab machines, aspirators, and wheelchairs. Ideally, we will also assist with the initial steps in starting a clinical study for KCNA2. I partnered with the KCNA2 Epilepsy Global Alliance (www.kcna2epilepsy.org) to facilitate these efforts.

So, what is KCNA2? Like most people, I was unaware of this condition until Leo was born in December of 2019 in Budapest, Hungary. His mom’s ultrasound scans, and standard genetic screenings were normal during a healthy pregnancy. However, shortly after birth, Leo began having epileptic seizures daily.

During the first few days of his life, he underwent spinal cord fluid tests, blood tests, MRIs, Ultrasounds and X-Rays, without any definitive results. It was not until Leo was 7-months old when genetic test results showed that he has a dominant KCNA2 de novo genetic variation. “De novo” indicates that neither parent passed down this variation. Children born with a variation in the KCNA2 gene have a wide spectrum of conditions, but in general, the variation affects the nervous system, physical function, intellectual development, and vision.

Initially, Leo was repeatedly turned away by all Hungarian government and private institutions. His parents, Lilla & Tamas, were told that Leo’s condition is too unique and severe for existent services. However, their strength and perseverance while enduring months of clinical uncertainty during COVID lockdowns brought results.

When Lilla & Tamas met Gabor Varga, a glimmer of hope emerged. Gabor’s son is also severely disabled. Gabor had been trying for years without success to find an institution appropriate for his son’s condition, much like Leo’s parents had been doing.

So, in 2018, Gabor took matters into his own hands! He founded Fellegvar Daycare – an institution focused on professional care and development for severely disabled kids in Hungary. After a year and through a successful public tender at the local government, Fellegvar Daycare was operational. Gabor secured a state-funded space for the school and hired individual caregivers for each of the five children enrolled. Enrollment numbers and associated staff have more than doubled since. Leo and his peers are well cared for and supported at Fellegvar.

Leo’s additional major source of support has come from the KCNA2 Epilepsy Global Alliance (www.kcna2epilepsy.org). This organization was founded by Dr. Nancy Musarra, a licensed clinical psychologist in Ohio whose daughter was also born with the variation. The Alliance is expanding its network of parents affected by KCNA2 to facilitate contact and crucial support amongst them across borders. For Lilla & Tamas, the Alliance network made them aware that they are not alone.

Organizations such as the Alliance and Fellegvar Daycare provide the hope for a brighter future to those who need it most. Please consider supporting this worthy cause and my inspired efforts to raise awareness around it.

Balazs Adam Szabo

Uncle of Leo with KCNA2

To read and donate on Ironman website click here.

To read more of "Our Stories" click here.

KCNA2, Inc. is a 501(3C) Non-Profit. All donations are tax deductible to the extent the law allows.

The 2022 Epilepsy Awareness Day Expo at Disneyland was held from October 31 through November 2nd and it was an in person event this year. While I learned a lot from attending virtually the past two years, it was an incredible experience to be able to attend in person and have the opportunity to network and walk around all the booths. The event was attended by thousands of people from all around the country.  

Conferences were held regarding a wide range of topics in order to reach a broad spectrum of people from the newly diagnosed to epilepsy product vendors and pharmaceutical representatives to long-time doctors and medical professionals. A copy of the speaker schedule can be found on their website at epilepsyawarenessday.org and clicking on the 2022 Speaker Schedule link.  

Vendors were present to help people learn how to get seizure dogs, and products like the Sami Alert Camera, Smart-Monitor and therapeutic technologies and advanced imaging techniques for hospitals. Neurology departments from hospitals all around the country had booths, as did The Autism Community in Action (TACA) and rare epilepsy foundations such as the Dravet Syndrome Foundation, LGS and Rett Syndrome. 

I attended the following conferences: Advanced Imaging Techniques for Pediatric Epilepsy Surgery by Kurtis Auguste, MD; Difficult to Treat Epilepsies: What’s Next? By Raj Rajaraman, MD; The Future of Treatment for Persons with Medically Refractory Epilepsy by Daniel Abrams, MD; No Golden Slumbers: Basics of Electrographic Status Epilepticus of Sleep by Kate Labiner, MD; Understanding Epilepsy Syndromes by Solomon Moshe, MD; Genetic Epilepsies in Pediatrics by Kristen Park, MD and Katie Angione MS; and Advocating As Rare Fathers From Diagnosis, Through Drug Discovery to Clinical Trials by Mike Graglia.  

I enjoyed learning about new technologies that will soon become available to everyone with epilepsy. Dr. Auguste spoke about how he uses virtual reality and augmented reality to show his pediatric patients their brain tumors and empower them through a hands on education of what is happening to them. Patients are able to jump into their brains virtually and grab their tumors! He also uses this technology to aid in surgery and allow for surgery to be more precise and reduce the risk of complications. Dr. Abrams spoke about how Google is currently working to develop earbuds designed to record EEG data.

By far though, the most meaningful conference I attended was the one by Mike Graglia. He is a father of a child with Syngap and he spoke about the things he has done to advocate for his child and the Syngap community. I hope to apply some of his techniques to advocate similarly for the KCNA2 community. 

The next conference is October 30 and 31, 2023. I hope you join me!



Alysha Applebaum

(KCNA2 Mom of 5-year-old)

KCNA2 Board Member

Click here for more information on Epilepsy Day at Disneyland

UPCOMING ZOOM MEETING 2023

The KCNA2 Board is planning to host zoom meetings with all KCNA2 families who would like to participate.

Due to time zone differences with families all over the world, we will schedule meetings at various times, hoping to accommodate as many people as possible. The next meeting is scheduled for May 7, 2023 at 5PM Eastern Standard Time. Check facebook groups and email for more information.

coreyhuth44@gmail.com