I am continually inspired by our growing “KCNA2 family” who initially connected in 2017 through Facebook. In four years, we have created a community of over 65 families, established a KCNA2 web site, a non-profit (501C3), elected a KCNA2 Board of Directors and appointed a world renown Scientific Committee who specialize in rare epilepsy research.

Working with the KCNA2 board that includes Renee Swannack (Co-Founder) and board members McKayla Leber, Alysha Applebaum and Oriana Horneck has been enlightening. They come to the table with creative ideas and energy, helping our organization put everything in place to connect KCNA2 families from around the world.

Our world renown Scientific Committee has been fantastic. Only months after committing to sit on the KCNA2 scientific board, they initiated the first ever KCNA2 Natural History Study. We are confident that their research will find answers for people living with KCNA2.

Families from around the globe, speaking 17 different languages, have joined together to share stories and treatment experiences. We understand each other’s journey and give support in ways only a KCNA2 family can do.

Collectively, we have a front row seat to our children’s daily challenges. We know how to celebrate the accomplishments of our children, even though some days seem impossible. Together we can gain a better understanding of this rare epilepsy and available treatment options so that individuals with KCNA2 can live their best lives. 

This is our first KCNA2 Newsletter. I hope you find it informative. Be sure to scroll to the end to read the timeline that highlights our accomplishments.

Please consider participating in the activities planned for 2022. I am grateful for all of you who have shared your stories, love and support with our KCNA2 family. I am especially grateful for all the donations made to our organization in 2021. Together we can encourage awareness and research around the world.



Nancy Musarra Ph.D. (KCNA2 Mom of 24-year-old)

President and Founder of KCNA2 Epilepsy, Inc.

Nancy with her daughter, Giana.

The first ever KCNA2 Natural History Study is currently being hosted by the Filadelfia Epilepsy Centre in Dianalund, Denmark in collaboration with Heidelberg University and Tubingen University in Germany. The main researchers of the study are Dr. Sabrina Neri, Dr. Guido Rubboli and Dr. Rikke Steensbjerre Møller. The study was initiated in July of 2021 and is scheduled to conclude in the spring of 2022. KCNA2 families from around the world of all ages are invited to participate by contacting Dr. Sabrina Neri at sner@filadelfia.dk.

Participation requires the completion of a short survey and to provide contact information for the physician(s) treating the individual diagnosed with KCNA2. The survey takes approximately 10 to 15 minutes to complete. 

The goal is to accommodate every KCNA2 family, regardless of phenotypic variant. Let Dr. Neri know if your preferred language is not English. She will translate the questionnaire for you in your preferred language. So far, 25 families have participated in the study. The questionnaire has been translated in Italian, Spanish, German and French.

The study will be published in a scientific journal covering topics specific to the field of genetic epilepsies. So far, data obtained has indicated that there are many variants of the KCNA2 gene, correlating with very mild to more severe phenotypes.

KCNA2 research will lead to a better understanding of this rare epilepsy and treatment interventions that are more effective. 

KCNA2 Research Highlights

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.

1. 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy
2. A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine SEPTEMBER 2021
3. Multiple Sclerosis Drug Is Repurposed to Treat Rare Cause of Epileptic Encephalopathy OCTOBER 2021
4. Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders FEBRUARY 2021
5. Dominant KCNA2 mutation causes episodic ataxia and pharmaco-responsive epilepsy NOVEMBER 2016

Coming to Terms with a KCNA2 Diagnosis

From a KCNA2 Mom

By Alysha Applebaum

Being a parent is challenging, no matter what. When your child is a newborn, you are constantly checking to see if they are accomplishing milestones on time and comparing your baby with other babies to make sure that yours is developing properly.

A special thanks to our Co-Founder Renee Swannack for her work on our social media platforms. Our strong media presence gives KCNA2 families a place to connect to each other and to the medical community.

Pictured above: Renee, Steve and their sons Damian (4) and Hector (2)

It's unexpected.

Some parents say they “just knew’ something was not quite right with their child, but did not know what. Other parents noticed that their child was not developing like others when they did not walk or talk when expected. Still other parents had no doubt that something was wrong, when their child turned blue because of a cluster of seizures that required immediate medical care.

Regardless, none of these parents expected their child to be diagnosed with a rare seizure disorder like KCNA2. Almost all of us were surprised when we began this long journey. We found ourselves frantically having to learn about KCNA2, a genetic mutation that most doctors know little about.

Parents of children with KCNA2 are often their child’s source of strength. Trial and error teach us how to evaluate the effectiveness of medications, identify how much sleep our child needs and to figure out what triggers cause our child additional stress, seizures and regression. We remain strong for our child (diagnosed with KCNA2) while supporting our other children.

Life is different. This journey is not temporary. It’s not like a headache that will find relief with two Tylenol or stitches that will heal in a few weeks. Instead, it’s a permanent change of life as we know it. There is no quick fix or cure. Rather, it’s a marathon. 

Here are 15 ways to care for yourself from a mom who knows. 

1. Accept that anxiety is a part of the package.

Since the diagnosis of KCNA2 is fairly new, many neurologists, therapists and primary care physicians are unfamiliar with this rare epilepsy. Parents often find themselves in the role of teacher, having to provide information about KCNA2 to doctors, therapists and teachers.

Even when they find a professional who is familiar with KCNA2, there are many unanswered questions about symptoms, prognosis and treatment. With this uncertainty comes anxiety and fear about developmental delays and seizure control to name two. Anxiety can cause inner turmoil for parents resulting in feeling nauseous and changes in sleep or eating patterns. Since there are no easy answers to the challenges of KCNA2, feeling anxious is inevitable. 

MY THOUGHTS: Pace yourself. Deal with challenges as they come. You will feel worried, scared and annoyed when questions go unanswered. Continue to move forward. Anxiety does not have to take away your strength. 

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

KEEPING THE FAITH

Pictured above: Brian, McKayla, Aaron (8), Noella (5) and Caleb (2)

How to Take Your KCNA2 Child to Church or Place of Worship

Statistically, 80-90% of special needs children do not attend church, nor their parents. Why? The list is too numerous. Often the biggest reason comes down to resources. Here is what you can do to make sure you and your child are spiritually being poured into by your local church or place of worship:

1.    Contact the church’s children’s ministry department to find out what special needs accommodations they have.

2.    Fill out a brief medical need form (Seizure Action Plan) to have on file.

3.    Ask for a trusted volunteer to be a “buddy” for your child during the church service.

Most church services last about an hour. During that hour, most parents go to the service to hear the message while the children go to some form of children’s church, typically with their peers. Ask for a buddy to sit alongside your child to help. This is to ensure your child is included and supported during that time. If your church does not have a children’s classroom separate from the church service, ask for a buddy to sit with your family to assist with your child’s needs during the service (this could include sitting and coloring, sticking stickers on paper, etc.).

Personally, my son goes to his 1^st grade classroom at church with his peers, and has an older teen that volunteers to be in the classroom with him if he needs any assistance. The teacher still gives the lesson and my son’s “buddy” is there to help. Sometimes they sit and do a craft or put stickers on paper while he listens. If he really needs to, our church has a sensory room he could go to for a break. This allows parents to worship and hear the message while their child is safe and getting their own age appropriate message. If he were to have a seizure, they have the seizure action plan to follow, that includes contacting us.

Where there is a will, there is a way!

If your church does not have this already established, all it takes is asking to see if someone from the church can volunteer their time so your whole family can worship. There are people in the church looking for ways to serve, but sometimes they just don’t know the need. You may be the first person to start this at your church. But, with one tiny seed, flowers bloom. I assure you there are many more special needs families, especially with neurological disorders, that would benefit from having a “buddy” for their child.

McKayla Leber (KCNA2 Mom of 8-year-old)

KCNA2 Board Member

2021 EPILEPSY AWARENESS DAY

Expo Disneyland

NOVEMBER 8th and 9th

Epilepsy Awareness Day Expo was held virtually on November 8th and 9th, 2021 in Disneyland. The two-day conference featured a wide range of topics from autism comorbidities with epilepsy to new advances in the surgical treatments. 

This most recent conference was just as informative as the previous Epilepsy Awareness Day Expo conferences I have attended. As a mother of a four-year-old child diagnosed with KCNA2, I found the topics interesting and valuable. For example, Jennifer Waldron, D.O. from UH Rainbow Babies and Children’s Hospital facilitated a presentation titled Mental Health and Epilepsy in Children and Adolescence. I learned that children with epilepsy suffer behavioral and mental health conditions at a rate of at least 4.8 times higher than the general pediatric population. However, symptoms of mental illness are difficult to recognize and diagnose because of the additional variables presented by seizure disorders. Dr. Waldron discussed the benefits of cognitive behavioral therapy to help individuals with symptoms of mental illness.

Next, I learned about the link between autism and epilepsy from Pantea Sharifi-Hannauer, MD (Pediatric Minds and UCLA). She explained how epilepsy is associated with neuropsychological problems and impaired social cognition. Social cognition tends to be impacted in epilepsy regardless of IQ, but lower IQs are associated with an increased risk. She stressed the importance of screening for social cognitive deficits and to start Early Intervention services as early as possible.

These comorbidities can limit developmental progress. This is why it is important to monitor and treat social cognitive deficits. I also attended conferences about sleep and epilepsy, IEP and 504 Plans, intractable epilepsy, surgery, visiting an epilepsy monitoring unit at CHLA, the brain recovery project and Vagus Nerve Stimulation (VNS). Conferences include many more topics such as diet therapy, transitioning to adult care, expectations for newly diagnosed, infantile spasms and the list goes on. 

This was an incredible event presented by top epilepsy doctors from around the United States. This was the ninth annual expo and the second virtual expo. All of the videos from their 2020 virtual expo are available on YouTube and can be found at this link: https://www.youtube.com/channel/UCA51ICzp51s_Ap7aBBWYqiQ

Alysha Applebaum (KCNA2 Mom of 4-year-old)

KCNA2 Board Member

Pictured above:

Oriana, Avery and Brian

UPCOMING ZOOM MEETINGS 2022

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.

DATES and TIMES will be announced in future KCNA2 NEWS UPDATES.