November has come to end, and with that so does Epilepsy Awareness Month. I wrote an article in the beginning of the month, about why I am an advocate for Epilepsy Awareness, dedicated to Jaimison and Jaxon, a brave pair of twins battling epilepsy. I decided to end Epilepsy Awareness Month and begin December with an article detailing the rare form of epilepsy that affects my twins and only 148 other individuals in the world

What is SCN8A? It is one letter out of place in a string of millions and millions of letters. Such a tiny yet devastating change that results in a diagnosis that changes lives.

In 2010, it was discovered that the role of the SCN8A gene regulates the flow of sodium that's related to the functioning of neurons and muscle and are responsible for the rising phase of the action potential. Any mutations in the SNC8A gene can cause neurological problems such as epilepsy, which is one of the oldest-known and poorly understood neurological disorders. The children affected with seizures onset generally between birth and the age of 18 months. While the impacts of SCN8A epilepsy vary patient to patient, most children have developmental and cognitive disabilities and movement disorders, as well as frequent language delays resulting in many of the children being non-verbal.

The Cute Syndrome Foundation, is a medical research group supporting SCN8A epilepsy established in 2013 by Hillary Savoie, whose daughter Esme is one of the few affected by this rare mutationMuch like Wishes for Elliot, the Cute Syndrome Foundation has a mission to advance the state of knowledge on the SCN8A mutation in order to ccelerate the pace of science to answer the questions of parents and provide accurate help for the children affected.

Of the 150 individuals with a known diagnosis of the mutation in the SCN8A gene, 110 of them are represented below as "The Faces of SCN8A" in a collage created by 2 of the amazing moms at The Cute Syndrome Foundation. The seven children depicted in color, rather than black and white, are the SCN8A angels who may have left our world but are never forgotten:

Let's Meet Some Cuties! (or at least some of them!)

Adeline

Cheerful cutie Adeline was only a few months old when she began to have severe seizures, and was officially diagnosed at 5 months old. While numerous tests were done and Adeline was in and out the hospital, her family was no closer to understanding how they could help their daughter. It wasn't until genetic testing was suggested that it was revealed that sweet Adeline had a rare mutation on her SCN8A gene when she was 7 months old. Adeline's mom, Juliann, is the advisor for The Cute Syndrome Foundation and the biggest advocate for her daughter and the other children affected by SCN8A epilepsy believes there needs to be a bigger push for genetic testing because the "Diagnosis definitely guides the treatment. It leads to seizure control, improved quality of life". The first year and half of Adeline's life were really difficult, but since the diagnosis of her genetic mutation it has guided treatment for Adeline and she has since developed rapidly. Today, Adeline is spirited and animated pre-schooler who loves to arts and crafts, swinging on her playset and caring for her recently born younger sister; she has only had one seizure since August 2015 which is a huge milestone and accomplishment.

Check out Adeline's facebook page: https://www.facebook.com/SCN8A-Help-Adeline-Find- A... and the article written about Adeline and the advocacy for SCN8A epilepsy: http://www.nwitimes.com/niche/get-healthy/health-c...

Esme

Esme is the inspiration behind The Cute Syndrome Foundation. This loving and joyful cutie, started having seizures around 9 months old resulting in the inability to hold up her head, babble, and gain weight, as well as poor muscle tone. Now at 4 years old, Esme has been diagnosed with not only a mutation on her SCN8A gene but her PCHD19 gene as well and due to both of these disorders being relatively new, they are poorly understood and underfunded hence why Esme’s mom, Hillary, founded The Cute Syndrome Foundation. But Esme is not letting the diagnosis stop her from being her joyful self! Esme can sit up by herself and pull herself into standing positions, as well as light up the room with her awarding-winning smile and personality; she recently lost her first tooth! On her mom's Instagram page, there are a series of cute pictures of Esme illustrating her jubilant personality ( @thecutesyndrome )

Check out her facebook page The Cute Syndrome at https://www.facebook.com/TheCuteSyndrome/?fref=ts or The Cute Syndrome Foundation page to learn more on SCN8A and donate to the cause at http://www.thecutesyndrome.com/ !

Jaimison and Jaxon

Though both of these cuties are their own individual and spirited little men, these twins had their first seizure one month after being born which initiated the start of their second home in the hospital. Fast forward three years later and the twins have been living in Colorado going on 2 years now, due to the ease of access to medical marijuana, particularly Charlotte’s Web . While both twins have had a difficult time with the diagnosis, Jaxon has had it worse than his older brother; he can not sit or stand unassisted, eat by mouth, nor is he able to communicate by any language. Despite these setbacks, Jaxon still defies epilepsy every day with his room-brightening and day-making smile. Jaimison has not let his SCN8A epilepsy diagnosis deter him in any way- learning to walk after doctors repeatedly said he wouldn't be able, learning sign language and beginning to talk, or rather yell is a more accurate term.

Elliot

This cutie Elliot and his family learned of his diagnosis in 2014. Elliot, among the children severely affected by the SCN8A mutation, does not possess voluntary control of any muscles meaning he has never had control of his neck, can not sit up, grasp objects, or eat by mouth. While Elliot does not have the ability to communicate in a language understood by most, he does make sounds and an animated smile never leaves this cutie's face! Despite all of this, Elliot is a cheerful kid who loves, and is loved by his family.

To learn more about Elliot's journey and SCN8A epilepsy in general, check out the link to Wishes for Elliot Facebook page! https://www.facebook.com/WishesForElliott/?fref=ts

For the cuties pictured above, the rest of the cuties affected by SCN8A, and all the other warriors diagnosed with epilepsy, Epilepsy Awareness does not end with the month of November- it is an everyday thing and these strong souls who fight a hard battle every day deserve all the attention they can get. Despite being around for centuries, we are no closer to understanding epilepsy nor are the families affected by SCN8A epilepsy any closer to finding a better answer on how to help their children, but you can help support research for SCN8A epilepsy by donating to The Cute Syndrome Foundation at http://www.thecutesyndrome.com/donate1.html

PuraVida bracelets are another good way to show your support for Epilepsy Awareness. For $5 you can purchase a simple, yet meaningful bracelet and part of the proceeds will go to National Seizure Disorder Organization whose focus is to educate society and bridge the gap from misunderstanding and fear to peace and acceptance. http://www.puravidabracelets.com/products/epilepsy...