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June 2024
Fourth Edition (#4)
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I’m excited to tell you that our KCNA2 organization will donate $25,000 to KCNA2 research this year. This is our first donation to a specific study. The study is focused on therapeutic interventions and gene therapy approaches to prevalent gain of function (GoF) and loss of function (LoF) variants. Stay tuned for updates regarding this study.
Did you see the video?
It's titled, “What is KCNA2 Epilepsy: Understanding this Rare Gene Disorder” If you have not seen it, here is the LINK. We’ve had over 1000 views in the first two months. Please watch it, like it, and share it with family, friends, and your treatment team. Together, we will send it around the world.
We also invite you to share your stories and pictures with us (email them to nancy@drnancymusarra.com). You will meet Jan, Josh and Carlotta who shared their stories in this newsletter. AND, if you haven’t already, sign up for our KCNA2 Global registry click HERE. Together we can gain research opportunities and support each other regardless of where we live.
I would like to thank McKayla Leber for sharing the information about Chiropractic Health in this newsletter. McKayla is very knowledgable about alternative therapeutic interventions.
Many of you have already encouraged family and friends to donate or participate in our fundraising events. This year, we highlight two events: The Ironman Competitions and the Fun Run Event. Consider participating in both fundraisers! Sign up to host a Fun Run in your community HERE. (Contact Oriana at: kcna2funrun@gmail.com).
Want to know where we can meet up?
First, on JULY 14, 2024, at 10:00 a.m. EST, we are planning a GLOBAL ZOOM meeting. (See link below). Everyone is welcome. We can ask questions and share solutions.
Another way we can meet up in person is at the 12th Annual Epilepsy Awareness Expo in Disneyland. KCNA2 Epilepsy will host a booth there on November 18th and 19th in Anaheim, CA. Several families, including the KCNA2 Board plan to attend (Corey, Alysha and Ilana, Oriana and Avery, McKayla and Aaron, and Giana and me).
It will be great to meet you all in person!
Everything I mentioned above is detailed in this Newsletter… Please read on.
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Nancy with her daughter, Giana. | |
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Nancy Musarra Ph.D.
KCNA2 Mom
President and Founder of KCNA2 Epilepsy, Inc.
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"What is KCNA2 Epilepsy?"
Watch the video below.
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KCNA2 Epilepsy: Understanding this Rare Gene Disorder
On February 27, 2024, KCNA2 Epilepsy launched our first video titled KCNA2 Epilepsy: Understanding this Rare Gene Disorder. The video, available on YouTube, describes the three known types of KCNA2 epilepsy, various symptoms, and available treatment interventions. Since its launch, it has been viewed over 1000 times. Please share this video with family, educators, and your treatment team. Here is the link to share; https://www.youtube.com/watch?v=FQeeb4p2rlI&t=215s. Like and subscribe to our channel, our goal is to make the world aware of KCNA2, so that together, we find a cure.
Please submit your Nursing Corner questions to our KCNA2 Board, Scientific Committee or Nurses Corner. Questions and responses will be posted in the next KCNA2 Newsletter.
Submit questions to Nancy Musarra.
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NURSES CORNER
Erin Livingston, RN
Ohio, USA
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KCNA2 REGISTRY/SURVEY INFORMATION~
WE NEED YOU!
IF YOU HAVEN'T ALREADY SUBMITTED YOUR INFORMATION, PLEASE DO IT TODAY! CLICK HERE FOR GOOGLE DOC.
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OUR NEXT GLOBAL ZOOM MEETING
- JULY 14, 2024 10:00AM EST.
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Check facebook groups and email for more information.
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KCNA2 Board and Scientific Advisory Board | |  |
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Look for our private KCNA2 Group on Facebook | |
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KCNA2
MEDICAL RESEARCH
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KCNA2 Families donate to fund research!
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KCNA2 Research – Models with KCNA2 GoF and LoF Variants
By November of 2024, KCNA2 Epilepsy, Inc. will make a substantial donation to help fund a research project focused on investigating specific therapeutic interventions and gene therapy approaches of prevalent GoF (R297Q) and LoF (P405L) variants. The title of the of the project is Models with KCNA2 GoF and LoF Variants.
Ulrike Hedrich-Klimosch, Ph.D., a neurobiologist from the Hertie Institute for Clinical Brain Research is leading the study. Dr. Hedrich-Klimosch and a doctoral student will work on the project together. They will give our group updates throughout the year regarding progress and findings of the study.
This research will be conducted at the University of Tübingen, directed by Dr. Holger Lerche. Dr. Lerche is a member of our KCNA2 Scientific Advisory Board.
For previous newsletters click here.
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KCNA2 FUNDRAISING
GET INVOLVED!
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KCNA2 GLOBAL AWARENESS DAY
Every year on August 31st 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.
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KCNA2 GLOBAL AWARENESS FUN & RUN | |
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Upcoming: KCNA2 Awareness Day 2024
August 31 is our annual Awareness Day! This year we have a goal of fundraising $10,000 to help support a larger grant our organization is giving to the KCNA2 research lab at the University of Tübingen, directed by Dr. Holger Lerche. The grant money will go directly towards a study that is testing two very promising treatment options for the gain-of-function and loss-of-function variants which cover over two-thirds of the KCNA2 population.
We need your help!
Anyone can host an Awareness Day event or start a fundraising campaign, even with just a few friends and family in your area! Our KCNA2 Board is here to provide support and help you organize your own event anywhere in the world. The main Awareness Day event for the third year in a row will be in Portland, Oregon where KCNA2 mother, Oriana Horneck, is hosting a 5K Fun Run, Walk, and Roll. Other events including a picnic in the park and a 1-mile stroll will be hosted in Sioux Falls, South Dakota, Fountain Valley, California and Cleveland, Ohio.
If you are interested in hosting an in-person event and/or a fundraising campaign, contact Oriana at: kcna2funrun@gmail.com
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Oriana Horneck
KCNA2 Mom
Board Member of KCNA2 Epilepsy, Inc.
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AN ELITE ATHLETE HAS PARTNERED WITH KCNA2 | |
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Balazs Adam Szabo has partnered with KCNA2 Epilepsy to raise money by participating in a 5 events in 2024!
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How can you help? Click below to donate.
We have raised over $2,000 so far in 2024!
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JOIN US AT DISNEYLAND FOR EPILEPSY AWARENESS DAY! | |
2024 Epilepsy Awareness Day
November 18th - 20th at Disneyland
Anaheim, California
by Alysha Applebaum
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Epilepsy Awareness Day at Disneyland 2023 took place from October 30th to November 1st 2023. There were a full two days of conferences every hour on every subject regarding epilepsy. Major hospitals from around the United States were present and their doctors gave interesting and informative presentations. Vendors were present to explain their life-saving epilepsy products as well as service puppies and information on how to go about getting a seizure alert and service dog trained if you need one.
Many rare epilepsy groups were represented and were able to connect with the International League Against Epilepsy, biotech companies and pharmaceutical companies. This was a wonderful opportunity to learn about a wide range of topics including the future of epilepsy technology, certain epilepsy syndromes, the connections between epilepsy and autism, and new treatment methods for intractable epilepsies.
We are excited to announce that KCNA2 Epilepsy will be attending as a sponsor next year. This will give us an opportunity to network with important experts on a larger platform and continue to stay on top of the latest research and treatment options. Please save the date: November 18-20th, 2024. Registration is now open at epilepsyawarenessday.org. Make sure to register soon so that you can get access to the hotel and theme park deals.
Alysha Applebaum
KCNA2 Mom
KCNA2 Board Member
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------Highest Health Chiropractic------ | |
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At just 9 years old, Aaron was completely stuck in a storm of stress: having severe seizures, lack of bodily control, poor social/emotional regulation, fine + gross motor struggles, and sleep challenges.
Extreme stress and frustration for any parent who dreams of a healthy life for their kiddos, but is trying to navigate the health world to find the best answers and help for their child’s struggles. 😞
Mom and Dad said, “We just wanted to help Aaron optimize overall function as we know his KCNA2 epilepsy pathogenic disease will never go away. We tried medical and therapeutic treatment along with seeing PT, OT, and a speech specialist. Our neurologist stated NOT to see a chiropractor, but after two years of praying, God led us to Highest Health- a neurologically focused chiropractic office. We didn’t want to just give Aaron medication to block the seizures, but we wanted to look at how we can help with other things, too, such as his rigid emotional, mental, physical, and spiritual state.” 💪🏻
Our kids’ bodies are truly designed to self-regulate and be adaptable to the environment. But Aaron’s neurological scans showed an internal stress response that was keeping his body stuck in survival mode vs. regulation & repair mode.
With consistent care, Aaron is crushing his goals left and right! 🎉 He now has mild seizures and is able to verbalize his thoughts/feelings with less aggression such as head butting, spitting, or hitting!! Go Aaron! Mom and Dad, also, report more bodily control with walking, jumping, and writing along with better sleep! His mom says, “If chiropractic care can help Aaron, who has a pathogenic disease that won’t go away, it can help ANYONE!”
Now, Aaron can live his life with less stress, fewer struggles, and more success. This young man is so sweet and intelligent- we can’t wait to see his bright future ahead!
#highesthealthchiropractic // #pxdocs // #pediatricchiropractic // #perfectstorm // #nervoussystem // #birthtrauma // #prenatalstress // #colic // anxiety in children // Depression in teens // Drug free solutions for my child //
McKayla Leber
KCNA2 Mom
KCNA2 Board Member
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KCNA2 Epilepsy Website
The KCNA2 web site can provide information to families and professionals. Each section of the web site offers something different. Under “Our Stories”, you will meet some of our “KCNA2 Warriors” and their families. If you would like your story to appear on the web site and/or newsletter, please send a short story with pictures (Jpegs) to nancy@drnancymusarra.com. Scroll down to meet Jan and Josh.
Learn more at: https://www.kcna2epilepsy.org
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Our Stories from Around the Globe |
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Jan's Story from Benesov, Czech Republic | |
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Meet Jan
Our son, Jan was born in October 2019 as a healthy baby. He was an extremely smiley and inquisitive boy and everyone loved him. Everything went well until his almost second birthday when he had a febrile seizure. After that we started to see little absences, many, many per day. Epilepsy was diagnosed few months later. Valproat was described to him, unfortunately he stopped tolerating it and we had to change it to Lamotrigin. However it didn't work as well as our doctor expected so she sent us to genetics testing where KCNA2 mutation was diagnosed when Jan was 3.5 years old.
He is 4.5 now and looks like any other kid. He is clinically without (or a little) seizures but his EEG is still really not clear. Although he is very communicative, he can say only few easy words and "not speaking" is his biggest problem now. He also has little bit trouble with balance during walking, but not that much. His hands are shaking when he wants to target something. He is little bit worse in socialization which is due at least in part to difficulty speaking.
Jan is the most cute boy we know, he loves riding his bike, drawing, jumping and crawling everywhere, romping with his younger sister and he is excited every time when someone pays attention to him.
Our main goal now is to help him communicate non-verbally and keep him happy. That makes us happy too.
Zuzana Loučková and Miroslav Loučka,
Czech Republic
KCNA2 Parent of Jan
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Josh's Story from England | |
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Meet Josh
Josh and our family are based in England. He experienced his first seizure at 5 weeks old - it was a healthy, normal pregnancy and birth, so a sudden seizure came as a shock. He experienced 4 more seizures that week and was promptly diagnosed with epilepsy and started on medication. Josh’s seizure frequency worsened before it showed signs of improvement but he often needed midazolam to break a cluster even in the early days. His KCNA2 diagnosis wasn’t confirmed until he was almost 2 years old.
He’s 6 years old now, and is a generally happy boy. He loves to play outside with a ball, chase his brother, and role play shops. He has developmental delays, ataxia and goes to a special needs school, but has formed friendships and is making progress (just at a slower pace). His main struggle is sleep, and our family are constantly exhausted.
Josh has tried and failed 3 medications, and currently takes a different 3 medications to give some level of seizure control - it has been trial and error of different combinations over the years. His seizures do not happen on a weekly basis anymore, but when they do happen they are so severe he ends up in a medically induced coma as the only way to stop the brain activity.
Last month Josh had a VNS device fitted as the next step in his epilepsy journey. We are yet to see the benefits of it and are aware it can be a slow process to reach therapeutic levels, but we are hopeful that the VNS will help reduce the severity of his seizures in the long term.
Ruth Cadoux,
England
KCNA2 Parent of Josh
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Carlotta's Story from Italy | |
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As written in Italian:
Ciao io sono Carlotta, ho 6 anni e vivo in Italia, la mia storia ha inizio a 40gg di vita quando ho cominciato ad avere la testa sempre all'indietro con gli occhi sempre all'insù e in movimento( ipovedente con nistagmo pendolare).
Sono così iniziati i controlli ( eeg-tac tronco encefalo- pev visivi).
A 15 mesi sono iniziate le prime crisi d'assenza e di conseguenza le prime cure farmacologiche.
Le crisi pian piano si sono trasformate in crisi convulsive.
Nel 2022 hanno scoperto che sono affetta dalla mutazione genetica del KCNA2.
Attualmente frequento 7 sedute di terapia a settimana presso un centro specializzato (4 fisioterapie, 2 logopedie e 1 ortottica), 1 volta l'anno frequento anche un trattamento intensivo di riabilitazione presso una struttura fuori regione, mi sposto con il deambulatore che utilizzo con i tutori e sono dotata di un passeggino posturale e una seduta pluri funzionale per scuola.
Sono una bimba solare e sempre sorridente, adoro giocare e amo le coccole,
Comunico a sillabe e dico qualche parolina(mamma, papà, nonna).
La mia mamma dice che sono un valore aggiunto nella vita di chi mi ama perché sono gioia allo stato puro.
Adoro la mia sorellina Matilda di 9 anni, con lei gioco e rido tanto.
~Carlotta
Translated to English via "Grammarly":
Hello, I am Carlotta, I am 6 years old and I live in Italy. My story begins at 40 days of life when I started to always have my head backwards with my eyes constantly looking up and moving (visually impaired with pendular nystagmus). This is when the checks began (EEG, brainstem CT, visual evoked potentials). At 15 months, the first absence seizures began and consequently the first drug treatments. The seizures slowly turned into convulsive seizures. In 2022, they discovered that I am affected by the genetic mutation of KCNA2. Currently, I attend 7 therapy sessions a week at a specialized center (4 physiotherapies, 2 speech therapies, and 1 orthoptics). Once a year, I also attend an intensive rehabilitation treatment at a facility outside the region. I move around with a walker that I use with braces and I have a postural stroller and a multi-functional seat for school. I am a sunny and always smiling girl, I love to play and I love cuddles. I communicate in syllables and say a few words (mom, dad, grandma). My mom says that I am an added value in the lives of those who love me because I am pure joy. I adore my 9-year-old sister Matilda, I play and laugh a lot with her.
~Carlotta
Submitted by,
Monica Cardinale, Italy
KCNA2 Parent of Carlotta
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Shout out to our
donors and volunteers!
We appreciate your support.
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KCNA2, Inc. is a 501(3C) Non-Profit. All donations are tax deductible to the extent the law allows. | | |
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KCNA2 Brochures Now Available in 10 Languages
We now have brochures available in the following 10 languages: English, Espanol, Italiano, Polska, Portuguesa, Francais, Deutche, Greek, Chinese and Arabic. You can download and print this information and share with your family and treatment team.
https://www.kcna2epilepsy.org/translated-brochure/
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