June is Dravet Syndrome Awareness Month!

If purchasing a shirt, all proceeds (minus what is charged to produce the shirt) will be donated directly to the Dravet Syndrome Foundation. You also have the option to make an additional donation in the amount of your choice during checkout of which 100% will be donated directly to the Dravet Syndrome Foundation.

Emma's Story

Emma was born on August 28, 2016 and brought so much joy to Nicole and Chris. They did not know what they were having, so to find out Emma was a girl left Nicole dreaming of dance recitals and mother daughter days.

In January 2017, Nicole was scheduled to return to work from maternity leave. That morning, Nicole thought Emma was having a reaction to her 4 month old vaccines, but it turns out Emma was having a Tonic-Clonic seizure which lasted for over 30 minutes. The ambulance was taking too long to arrive so Nicole and Chris drove her to the nearest hospital, and she seized the entire way. Upon arrival, they handed her off to the doctors who could not figure out what is happening to her. Each month following her hospital stay, Emma continued to have 30+ minute febrile related seizures.

A tonic- clonic seizure includes two stages: during the tonic stage you lose consciousness, your body goes stiff and you fall to the floor. During the clonic stage, your limbs jerk, and you often have difficulty breathing. Emma will often have a tonic-clonic seizure when she has an underlying illness, such as a cold, an ear infection, or even a slight fever.

Nicole and Chris turned to specialists to try and figure out why Emma was having such frequent and prolonged seizures, but they could not obtain answers. Emma continued to develop normally and meet her milestones up until 1 year of age, at which point everything changed.

Emma?s seizures began to change from 30-minute tonic-clonic seizures, to days where Emma would have 30 or more atonic seizures a day. During an atonic seizure, your body becomes limp, your head nods forward, and you often fall to the ground. During this time, Emma stopped developing and during one of her many therapy sessions she could no longer recognize Nicole when the therapist asked Emma where her mom was. Her brain was in a disarray, and Nicole and Chris knew they needed to get her help and answers.

They were referred to Dupont Nemours hospital in Delaware. After an hour-long evaluation, the doctor told them that Emma most likely has the SCN1-A gene mutation, or the sodium channel gene mutation. Genetic testing needed to be done to confirm the diagnosis, but in the meantime, Emma was started on her first medication at just one year old. It was important to get a diagnosis quickly because certain epileptic medicines can make seizures worse if she did have the gene mutation.

Soon after her Dupont evaluation, Nicole, Chris and Emma completed genetic testing, and one month later they received the results that neither Nicole or Chris were the carrier of the gene, but Emma was de novo, or the starter of the gene. It was confirmed that Emma had the SCN1-A gene mutation which followed with the diagnosis of Dravet Syndrome.

Dravet Syndrome is a rare, catastrophic form of epilepsy that begins in infancy and significantly impacts individuals throughout their life. Children with Dravet Syndrome have a wide range of seizure types and severity. They have many other problems including development setback, speech and language problems, and balance and walking issues. Currently there are only a few medications approved to treat Dravet Syndrome, each with their own set of issues. There is no set treatment plan from one Dravet patient to another; they are all different and oftentimes it?s like playing Russian roulette with medicine since there is not enough known about this syndrome and it is not one size fits all.

Now age 5, Emma currently is on several medications, including Levocartine which helps heal her liver from the other medications. Emma needs to take medication at several times throughout the day to keep her seizures at bay. Her daily schedule includes medication at 5am, 8am, 10am, 12pm, 6pm, 7pm and 8 pm. Emma also has two rescue medicines that are used to counteract certain seizure types and are given depending on how long the seizures last.

With Dravet syndrome comes the fear of SUDEP (sudden unexpected death in someone with epilepsy) and a prolonged seizure in which rescue medicine may not stop. Emma is with Nicole 24/7 with Nicole administering medication and closely watching Emma to ensure her safety.

When it seems as though they?ve controlled the seizures, new triggers arise and new types of seizures occur for Emma. Dravet is an ever changing and ever evolving beast that makes sure you know its in control and you never will be.

Some of Emma?s seizure triggers are:

• fever due to infection or illness,
• increase in body temperature not related to fever, including cold/hot weather
• high air temperature, even on overcast days,
• physical exertion,
• photo sensitivity, and
• emotional stress or excitement.

Emma does not sweat and cannot control her internal body temperature, so many precautions must be taken. Emma does not talk, but she can communicate with a few words, and she does her best to make you understand what she wants, one way or another. She understands exactly what you are saying but may take a minute or two to comprehend it. While Emma should be in kindergarten, she can do most things a 3-year-old can do. Emma currently attends speech therapy, physical therapy, occupational therapy, and therapeutic riding where she is assisted in riding a horse to help with her balance.

Due to the challenges Emma faces, Nicole and Emma must stay in the house most days. Nicole has learned strategies to curb Emma?s excitement when her dad comes home from work so she doesn?t have a seizure. Emma wears a cooling vest on a warm day just to go from the house to the car. Nicole often finds herself having to explain why Emma does not talk, cannot go to the park, or has to decline a birthday party invite. Emma does not understand why she has limits when she just wants to run around on a sunny day.

Since her first seizure, Emma has had:

• over 15 inpatient hospital stays,
• over 50 emergency ambulance rides,
• 5 different seizure types, including a new type in which it appears she is being electrocuted. 

She requires blood work every 12 weeks in order to monitor levels due to her medications. What would trigger a high alert in blood work results for most adults does not trigger an alert for Emma.

Nicole and Chris have concerns as Emma gets older. The milestones you would expect for a normal developing child such as learning to drive, going to a school dance, or having sleepovers are most likely not a reality.

They have held their child in a hospital and prayed for things to get better and for them to make it through. They have watched Emma turn blue from lack of oxygen on their living room floor while waiting for the ambulance. These things leave a scar on your heart that never goes away. The past holds trauma, and the future holds uncertainty so instead they focus on the present.

What they have learned is that Dravet syndrome and her disabilities will not define Emma. Her abilities are amazing, and Nicole and Chris are so proud of the sweet little girl that Emma is. They celebrate ALL wins, whether big or small. Emma recently started saying her name a few months ago, and as a parent that?s huge. She may not be able to tell you she loves you, but she will absolutely show you her love.

While a cure may never be found during Emma?s lifetime, Nicole, Chris and other families hold onto the hope for more research, trials, and medications available to aid in seizure control. These children deserve better, much better. They deserve to be kids and the hope is that one day kids like Emma can enjoy a beautiful sunny day outside.

Please help us in supporting increased awareness and research for Dravet Syndrome. With your donation, the hope is that families and children battling this rare, genetic condition will continue to have hope for improved treatment options and research toward finding a cure.

Learn more at www.dravetfoundation.org