Updated: Jul 2, 2021
After a normal pregnancy and 10 days overdue, Natalie Martinka was born a beautiful, perfectly healthy little baby on December 18 of 2016. Those first few months were complete bliss as she joined her two brothers and completed our family of 5.
In June, at 5.5 months old, Natalie had her first of many seizures. It was early morning and I had just finished nursing her in bed. It felt like she was shivering but the movement was too rhythmic. I somehow realized she was having a seizure, and it wasn't stopping. We called the ambulance and since we live on a farm, we started driving to meet them on the road. Half way there the seizure stopped. It had lasted approximately 20 minutes long. We continued into the city by ambulance, where we were seen by a pediatric neurologist and she underwent every test under the sun from bloodwork to EEG to lumbar puncture to MRI. In the end, she was sent home on her first anti-seizure medication and we were told it may have likely been a one off.
6 weeks later, she had another grand mal seizure and then 5 weeks after that again, then 4 weeks again. She was diagnosed with epilepsy at this time and no further answers were found. By this time it was fall, and things really started to escalate. Multiple different seizure types were starting to show up. She started having daily "head drops" which are very brief. But she was having as many as 100 a day. She was also having her grand mal convulsive seizures more frequently, and we were in the hospital every couple weeks. What was extra scary about them was that they were prolonged. Most seizures only last a minute or two. Hers were averaging 30 minutes long and lasting as long as an hour.
We would rush to the ambulance every time she had a grand mal because she needed many doses of medications to stop the seizures which in return affected her ability to breath. The most severe seizure was shortly after her 1st birthday when she needed to be intubated and flown by STARS to the Royal University Hospital for a stay in the PICU.
It was in the Fall when I thought to myself "this isn't just epilepsy" and I started doing my own research. Almost immediately I came across a condition known as Dravet Syndrome. It is described as a severe and catastrophic form of epilepsy. My heart sank. Every story I read from the Dravet families started out exactly like ours. Natalie checked every characteristic except for two. She was not yet developmentally delayed and we had not done genetic testing.
Dravet is officially diagnosed when there is a genetic mutation of the SCN1A gene. This gene is a sodium channel and is the underlying cause of the seizures. I approached our pediatric neurologist to do the genetic testing. November 2017 blood work was done. Results came back in January 2018, and Natalie received an official diagnosis of an SCN1A gene mutation and Dravet Syndrome.
To learn that your perfect healthy baby will not grow to meet milestones is devastating. As a parent, your hopes and dreams for them are completely shattered. I started trying to do every possible measure to help control her seizures. These seizures were drug resistant so medications only helped a little bit. Plus she was so little to be taking such heavy medications. She started Ketogenic Diet Therapy at 11 months old. For a year and a half I administered her diet by weighing out every meal ingredient to .1 of a gram. Her meals were her prescription. We worked closely with a dietician. There was no cheating. I also researched CBD oil and tried that.
It was finally at 2 years old we tried a new medication that was ultimately a game changer for us. It was a special medication specifically for Dravet Syndrome. It stopped the prolonged seizures. Since she started this new medication, she will still have seizures but they only last a minute or less which means no more rushing to the ambulance and we can stay home for her to rest and sleep it off.
Natalie still has daily "drops" but they are much better controlled than what they were. They are unpredictable and sometimes she hurts herself as she falls to the ground. She will sometimes wear protective headgear on bad days. Her grand mal convulsive seizures are often triggered by overheating such as running around or fever. Sometimes over stimulation or excitement or temperature change can also trigger a seizure. Sleep is so very important for her to feel her best and prevent seizures. It's also very hard to stop my now four year old from running around and being "too active." A hot summer day is a big red flag. We don't spend hot summer days at the beach for fear of a seizure. We don't stay out late at friends houses or weddings because it will be a recipe for a seizure. Dravet Syndrome affects all aspects of our daily lives.
The developmental delays started to show up around 2 years old. She is currently 4.5 years old and is non-verbal. She can say a few basic words. She also has ataxia which affects her balance and coordination. Natalie is the most resilient human being I know. She inspires me every day with her fight and desire to succeed despite every single thing being 100x harder for her than her same age peers. An hour after a seizure she will be up and going about her day like nothing phased her. It's incredible to see her not have fear of her condition while I, as her parent, feel crippled by it. And although being nonverbal, she is also the most social and communicative little thing. She has adapted ways to get her points and feelings across. She can understand most of what I say but she cannot form the words herself.
I dream of a day that there will be a cure for Dravet Syndrome. I dream that these kids and their families do not have to live through this suffering. We are getting close as genetic therapy advances. Until then, I know Natalie will persevere and push forward despite challenges. And I will be over here fighting alongside her.
To follow Natalie and her journey, you can follow @prairiepretty on Instagram, or Natalie Shine Bright on Facebook.