Since the first KCNA2 Newsletter was published in January, 2022, our group has engaged in several events. First, on April 23, 2022, we hosted our first ever KCNA2 Global ZOOM meeting. Families from several different countries were able to meet “face-to-face” to share stories and answer questions. On August 31, 2022, we celebrated KCNA2 Global Awareness Day by hosting a KCNA2 FUN RUN. Board member Oriana Horneck organized the entire event that raised over $3,500.00 for our group. Read more about these events in the “What’s New with KCNA2?” section of this Newsletter.

I am so impressed with the thoughtful and complex questions KCNA2 parents submit to our Nursing Corner. We address some of your questions in this Newsletter pertaining to acidosis, electrical status epilepticus (ESES) and breathing issues related to seizures. Please continue to email us with your questions in the future. 

In the past nine months, we have welcomed 22 additional KCNA2 families to our KCNA2 Parent Facebook group. Four of these families, including Elia, Michael, Matthew, Nya and Nathan are featured in this newsletter.  

As expected, this Newsletter includes a KCNA2 Medical and Research Update. Two peer reviewed articles are included. It is my hope that the next KCNA2 Newsletter includes information about the first KCNA2 Natural History Study that many of our families participated in during the last two years with our Scientific Committee. Guido Rubboli, M.D. informed me that data is being compiled and we will be updated soon.  Also featured are upcoming events such as the Epilepsy Awareness Day at the Disneyland Resort. 

Until then, stay in touch and continue to connect and share information about KCNA2 through our Facebook, Website, Board of Directors and world-renowned Scientific Committee who specialize in rare epilepsy research. Also, to check out previous newsletters click here. Be sure to scroll to the end to read the timeline that highlights our accomplishments. 

Know that you are a part of the KCNA2 family who understand the challenges and triumphs that our children face every day. Together, we WILL find real answers to help our children and family live their best life.  

Nancy Musarra Ph.D.

(KCNA2 Mom of 25-year-old)

President and Founder of KCNA2 Epilepsy, Inc.

Nancy with her daughter, Giana.

FIRST GLOBAL ZOOM MEETING

On April 23, 2022 families from around the globe were able to meet during our first ever KCNA2 Global Zoom Meeting. We were able to share stories and treatment ideas. Our next Zoom meeting date will be announced soon. Look for information in our Facebook groups and emails. See you then!

KCNA2 GLOBAL AWARENESS DAY

On August 31st, 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. Our group celebrates this discovery each year. 

KCNA2 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, but 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 for KCNA2 Epilepsy this year. We plan to make this an annual event. Thank you Oriana for doing such a fantastic job!

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. Multi-center Study of Impact Covid 19, 2022
2. Clinical Spectrum and Genotype associations of KCNA2-related Encephalopathies

What is Acidosis?

Our KCNA2 children have all tried so many different medications. Oftentimes side effects can be a major problem and a good reason to move on to the next medication. However, sometimes we get lucky and a medication is being tolerated well with minimal side effects. Often the side effects have been there all along, but were minimal and did not cause significant problems.

One of the side effects of the medication Acetazolamide, [https://medlineplus.gov/druginfo/meds/a682756.html ] also known by its brand name, Diamox, is acidosis. This means that the body has a high blood acid level. You probably will not notice your child has acidosis until they get sick. We noticed our child had acidosis after our family experienced gastroenteritis in March, 2022. When each person in our family became sick with gastroenteritis, were all feeling ill and experiencing symptoms for less than 12 hours, except for Ilana, who was sick with symptoms for an entire week. 

Can Acidosis Weaken the Immune System?

Many people tried to tell me that she had a weak immune system because of her KCNA2 diagnosis. In my heart, I knew this to be false. Ilana’s neurologist later explained to me that it was her acidosis which caused her to be sick longer than the rest of our family. She explained that acidosis makes it hard for the body to stop vomiting or having diarrhea once it starts. This happens because when on Acetazolamide, the body breathes faster, which causes low bicarbonate levels, and therefore does not expel acid from the body. 

Bicarbonate Levels Low Due to Acetazolamide (Diamox)

When Ilana was in the hospital for her previous EEG, we were told that her bicarbonate levels were extremely low, as a side effect of her Acetazolamide. She had an entire team of doctors while she was there, and I asked them what it means to have low bicarbonate levels, and none of them could tell me. The answer I was given was that it was just due to her Acetazolamide and I should not worry about it as they planned to replenish her levels while we were there. After some prodding, they were able to tell me that it means she just breathes a little faster. Of course, we were worried that the hyperventilation could be causing an increase in seizures. In addition to having her levels replenished, we lowered her dose of Acetazolamide. 

Acetazolamide has been very effective for Ilana in reducing her ataxia. The diagnosis of acidosis and low bicarbonate levels were not enough reason for us to decide she should stop taking Acetazolamide. However, you should consult with your doctor if your child is taking Acetazolamide so that your child can be monitored with regular blood tests to monitor symptoms of acidosis. 

https://www.msdmanuals.com/home/hormonal-and-metabolic-disorders/acid-base-balance/acidosis

Alysha Applebaum

(KCNA2 Mom of 5-year-old)

KCNA2 Board Member

ESES refers to electrical status epilepticus. ESES is identified when an individual’s EEG pattern shows continuous (or near continuous) spike-wave discharges during non-rem (NREM) sleep. These generalized spike-wave discharges typically appear as soon as the individual falls asleep. The typical frequency of discharge is 1.5 to 2 per second and the pattern is thought to affect children ages 3 – 13, with a peak between 9 and 10 years old (Ouyang, Wang & Yang, et. al., 2015). The pattern of continuous spike-wave discharges during sleep has been identified in a variety of rare epilepsy syndromes, including some individuals diagnosed with KCNA2. Once diagnosed, this condition needs addressed and treated so that neurological impairments can be minimized. 

What Symptoms are Linked to ESES?

Continuous epileptic discharges during sleep, or ESES, have been linked to an overall increase of clinical seizures (during sleep and while awake) as well as many neuropsychological impairments. The most common neurological impairments are difficulty with memory consolidation, attention, dyslexia, aggression, speech, expressing thoughts and feelings and urinary incontinence (M. Asghar, 2022, Kessi, et al., 2018). The longer the individual experiences ESES, the more severe the symptoms and prognosis. This is why ESES needs to be identified as quickly as possible and treated so that the individual can avoid long term consequences. 

Treatment of ESES

Although ESES is difficult to treat, some patients are responding to medications, although several trials are common. One example of this is illustrated in a 2021 study conducted by Rosko and colleagues. They followed 16 subjects diagnosed with ESES for two years. The subjects ranged in age from 3 to 7 years old. All subjects participated in an initial evaluation to confirm ESES, a clinical evaluation, neurological examination and a sleep/wake EEG’s. In all subjects, anti-epileptic medications were utilized as a first treatment option. This was effective for 87% of the subjects, but 56% relapsed. At a two year follow up, Rosko and colleagues conclude that there is a high failure rate with first line anti-epileptic medications (AED’s) in preventing ESES, and a high relapse rate. They found that there is no standardized way to manage ESES. Therefore, ESES is best managed by combining relevant medical records, research from clinical trials and experience. 

If you are a parent, wondering if your child is experiencing ESES, ask your child’s neurologist to arrange an overnight EEG that can capture brain activity while the child is sleeping. The data will help your neurologist identify brain wave patterns that may indicate ESES. From there, you can discuss best treatment options and re-evaluations in an effort to gain seizure control and monitor progress. 

For more information about if your child can have a seizure in their sleep, read the following article: https://www.drnancymusarra.com/can-your-child-have-a-seizure-their-sleep/

Nancy Musarra, Ph.D.

KCNA2 Board President

https://www.hindawi.com/journals/cin/2022/5395383/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034250

https://pubmed.ncbi.nlm.nih.gov/25392005

Our Stories from Around the Globe

Elia's Story from Italy

Elia was born in 2012 with spontaneous and full-term birth. He had the first episodes of seizures at five months with generalized focal seizures during the falling asleep phase. Made several hospitalizations with two MRIs with nothing obvious and three genetic studies.

It was difficult to find medications for Elijah that would control seizures for a time because he quickly became resistant to the medications. After so many drug attempts, we were able to reset the seizures with a course of ACTH, after which she started reacting to the drugs. Now he takes Depakin, rivotril, taloxa and tirosint being hypothyroid.We discovered his genetic problem in 2017 and he was the 24th case. Now Elia has the seizures under control, he has ataxia and cognitive deficit but his development is advancing and we are very happy.

We are not yet aware of the KCNA2 type, it is thought to be a loss of function but it is not yet certain.



Elia’s story In Italian

Elia è nato nel 2012 con parto spontaneo e a termine.

Ha avuto i primi episodi di crisi epilettiche a cinque mesi con crisi focali generalizzate durante la fase dell' addormentamento .

Fatti diversi ricoveri con due risonanze con nulla di evidente e tre studi genetici.

Elia ha trovato parecchie difficoltà a trovare medicinali che gli facessero passare le crisi, diventava subito farmaci resistente. Dopo tanti tentativi di medicinali siamo riusciti a fare un reset delle crisi epilettiche con un ciclo di ACTH ,dopo di ché ha iniziato a reagire ai medicinali. Ora prende Depakin,rivotril, taloxa e tirosint essendo ipotiroideo.Abbiamo scoperto il suo problema genetico nel 2017 e lui era il ventiquattresimo caso. Ora Elia ha le crisi sotto controllo, ha un' atassia e deficit cognitivo ma il suo sviluppo sta avanzando e noi siamo molto contenti.

Non siamo ancora a conoscenza della sua casistica,si pensa sia una perdita di funzione ma non è ancora certa.

Giorgia Agostini

(KCNA2 Mom of Elia) 

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

The Twins from Sleaford in Lincolnshire, UK 

Michael and Matthew

I have 2-year-old twin boys born through a long road of IVF. And they are identical as I had one embryo and I was blessed that it split, Michael and Matthew they are our world! They were born at 34 weeks and 3 days.

At 7 half months Michael had his first ever seizure tonic-clonic. Was put down 'one-off' though found to be anemic (turned out all 3 of us were and had medication. 

Then at 15 months old had clusters of tonic-clonic with high temperature as woke us up with his seizures and was put down to febrile. A couple of months later he had more seizures from just a slight knock on his head and again a week later from a knock on the head no one could explain why had buccal and was on lose dose of Levetricam. He then went nearly 4 months without and had hand foot and mouth and I watch him drop into tonic-clonic seizures with high temp had clusters of seizures nearly requiring intubation luckily resolved then the following month had an ear infection that set his seizures off again. And then again a week later. His recent one was in Feb this year again from an ear infection that had clusters again. Also, close to intubation but luckily controlled every time I've used the Buccal Midazolam. Michael by the next day is his bouncy happy self no issues with development walking etc starting put sentences together etc.

His twin brother at age 13 months fell split his lip I bathed it as you do and he started having seizures went into clusters no temp, no nothing, several medications to control them he was back to his bouncy self,' put down to a one-off shock seizures. Then a couple of months later had clusters of viral infection.

Then a month later had viral again clusters at home then next day in hospital temperature spikes so suspected infection as his markers slightly raised (like Michael's when he was poorly) treated antibiotics nothing for nearly 3 months then heard him at night tonic clonic slightly raised temp put down to viral then 4 days later hot day he was fine went into clusters again no temp but again put down viral still and he carried on having multiple at hospital that he had to be intubated luckily brought out after 5 hours took 2 days was started on Levertracem and back to his normal happy self then again following month a sickness bug next day drop tonic clonic seizure no temp treated then home then day after brother went in hospital hand foot and mouth he went in with clusters same day more seizures close too intubation x then went whole 7 half months he was on high dose of Levertacem so as always put down too 'febrile' I asked see could be reduced and coped well x and we on hoilday in June this year had high night before calpol etc dropped down back usual self good time hoilday but felt warm after swim was bit grumpy and before could check he went into clusters of seizures he was very sick aspirated was intubated as went in status very high temp and ward in Picu for 4 days was found to have chicken pox common cold and flu and had aspirated pneumonia due to being very sick. 

He then had another 10 days on the ward as had withdrawal symptoms and developed high potassium from various drugs used had to be changed kidney injury also though was recovered in hospital and high blood pressure monitored closely and change of withdrawal drugs helped. And he is getting checked for his kidneys and back up the high dose. We've been waiting for over a year for genetics. But whilst in a different hospital, they did fast-tracked and were told Matthew had a change in this gene that would explain his epilepsy asked about his development which so far is fine his walking fine, etc. and though little slower than his brother but is putting sentences together communicates well, etc though can be highly emotional as is his brother and the usual terrible two stage. ( every seizure usu buccal ).

Thank you for taking the time to read all this and enjoy the pic of our two boys.

Emily Fern Hopkins

(KCNA2 Mom of twins) 

Nya's Story from Ferndale, Washington (USA)

Nya was born full term in the fall of 2019. What looked like seizures were recognized right after birth. After a short stay in the NICU, nothing was found so we continued to slowly pursue answers. At 7.5 months, soon after her first major epileptic event, she was diagnosed with the loss of function KCNA2 gene mutation! Her seizures have been relatively well managed, with her struggle mostly being to stay healthy due to compounded compromised lung function. This tough cookie works hard in several therapies, making great strides in mobility, hand eye coordination, and communication! Though she cannot walk, hold her head up (yet!), or communicate in the traditional sense, she is one of the most social people I have ever met. Her life has made me reevaluate my perception of what a happiness looks like. She is a joy giver - delighting in the smallest of things; laughing with us about anything. She's observant - noticing every presence who enters a room and most often greeting them with a smile. She's excitable - always ready to practice jumping, eating her hands, or enjoy her favorite sound books. She is our favorite person and were so thankful for the way she was uniquely made. We look forward to seeing where she goes, what she does, and supporting her as she takes the lead. We're thankful for this community as we learn together about their disability and to advocate for our kids!

Erin McGuire

(KCNA2 Mom of Nya) 

Nathan's Story from Naperville, Illinois (USA)

Being a parent to a child with medical needs feels like a rough meandering path. Trying to juggle doctor's appointments, hospital visits, ER visits, medications, therapies, and work. Having other children to care for isn’t something that comes naturally and easily. All these entail planning and a mindful approach, transparent communications with doctors and the treatment team, adherence to treatment regimens, and the list can go on and on. 

Our son, Nathan, is a 3-year-old boy, and for two years of his life, he has been fighting for a seizure-free life. Nathan was born with a rare condition called KCNA-2. It’s so rare that only 160 kids worldwide share the same condition as Nathan. Not to mention, there are fewer kids with Nathan’s variant, just 16 known cases. 

Nathan had his first seizure when he was 14 months. Then, another seizure a few months later. In January of 2021, he was diagnosed with Epilepsy. The doctors told us not to worry, and kids grow out of it. To our surprise, things weren’t so simple. Later in 2021, we found out Nathan has this rare condition causing epilepsy that is hard to manage and problems with motor skills and speech. Nathan has all types of seizures, from absence seizures to drop, focal, and tonic-clonic. 

In April of 2022, we started Nathan on the ketogenic diet. Hearing and learning about this miracle diet gave me hope. It was a tough transition for all of us. From eating fruits and chicken nuggets, we switched to cups of whipping cream, frozen sugar-free Gatorade popsicles, loads of butter, and other ketogenic type ingredients. The food was not the most challenging in our shift. The hardest part was how to give Nathan his meds. Before, we would hide pills in sweets but couldn’t do it with the ketogenic diet. 

To our surprise, incorporating the ketogenic diet into our busy lives wasn’t hard compared to Nathan’s response to the diet. While doing better developmentally on the ketogenic diet, he has been doing worse with seizure control. Imagine seeing your kid doing fun things, but when fun comes with the consequence. The side effect for Nathan has been multiple ER visits, a few hospitalizations and medication adjustments, and a visit to Mayo Clinic. I’m writing this as I’m comforting Nathan in the hospital. 

If you are wondering, “how is she coping with all of this.” I don’t have a good answer for you. I feel life has slowly prepared me for this. I have personal and professional experience that helped me to stay cautiously optimistic. I say cautiously because reality hits hard sometimes. I joined a small community of parents who have children with KCNA-2. Parents of children worldwide share similar experiences, yet the kids are on different treatment regimens and spectrum. 

I want to channel my energy into the things that make our lives meaningful, fulfilling, and vital. I can see my mission statement so clearly when I know what I want to stand up for in life. For me, it’s raising awareness worldwide, helping people live a life free of mental health stigma, and helping people distribute their energies in the right direction. It’s not easy to put ourselves in other people’s shoes. I get it. Equanimity, compassion, and empathy come from being open and welcoming to other people’s experiences and attempting to understand where the people are at with their experiences. 

Being a parent of a child with medical needs isn’t easy. When I said it feels like a meandering path, I truly meant it. I find courage and bravery in seeing my little boy fighting so hard for his everyday toddler life. He is resilient regardless of his medical diagnosis. Nathan is a courageous, loving, caring, and fun kid. His strengths conquer all the obstacles life throws at him. His smile lights up the path to healing and life free of seizures. 

Olene Burger

(KCNA2 Mom of Nathan) 

To read more of "Our Stories" click here.

Click here to Register

UPCOMING ZOOM MEETINGS 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.

DATES AND TIMES FOR THE NEXT ZOOM MEETINGS WILL BE ANNOUNCED.