By Chelsea Wiggins
Rare diseases are rare in most people’s reality. Many only ever witness them on shows like Grey’s Anatomy; however, that is not the case for Oakland University student Emily Karas.
Emily and her family have firsthand witnessed a misdiagnosis and formal diagnosis of her younger sister Evelyn (Evy).
Evy, who carries the gene for a rare and complex disease called Dravet Syndrome, has surpassed many expectations based on the limited existing research.
Dravet Syndrome is the most severe seizure disorder related to the SCN1A gene. Only about 1 in every 40,000 people are diagnosed with the disease.
It often develops in infants around 6 months old suffering from seizures triggered by high temperatures. As the child ages, the triggers and frequency of seizures increase.
Symptoms of the disease are not only limited to seizures, but also sudden muscle jerking, loss of developmental skills, intellectual disability, problems with walking, speech impairment, and Autistic-like behavior.
“There is no cure for it and it is a fatal disease, the mortality rate is super high,” Emily said. “However, she has lived to be 20 years old, while most kids don’t make it out of childhood. Especially since she was misdiagnosed until the age of 16. We thought she had epilepsy and brain damage until the doctor found an improper chromosome in her genetic makeup.”
How did the Karas family manage to surpass all life expectancy statistics and beat so many of the symptoms without ever knowing the proper treatments or medications for Evy?
Emily attributes her long-term survival and thriving life to her parents, specifically her mother’s creativity and persistence.
“When we found out that her disease actually has a high death rate we were shocked and impressed, and my parents were a little bit proud of themselves, to put it frankly, for keeping her alive for so long,” Emily said.
“I credit my parents a lot for the fact that my sister is still able to walk and talk – because of the fact that my mom forces Evy out of bed every day, even though she would much rather stay in bed and play on her iPad all day. She also forces Evy to use her manners, ‘please’ and ‘thank you’ every day,” Emily said. “She will often ask for things but not want to get them herself. My mother will occasionally get them for her, as she would for any of us, but she tries to force Evy to get them herself, to teach her how to be independent.”
These are values and skills a parent would teach any child but they have proved to help in giving Evy a much fuller life.
According to Emily, the only thing that changed after Evy’s official diagnosis was the sleeping arrangements and the hygiene routine.
“I would say the only way my family has changed from a normal family dynamic is my sister sleeps in my parents’ room with bells around her wrists, so that if she does have a seizure the bells will ring from her shaking, waking my parents up and alerting them so they can administer the right medications to limit her seizure activity. My mom also showers Evy every day since she shouldn’t be left alone and it is the best possible way to ensure she’s the cleanest she can be.”
Aside from the severity of her disease the Karas family leads a typical American family life.
“I am the oldest, 21, and attend Oakland University. My younger sister Evelyn is 20 and still lives at home, along with my youngest siblings, a 15 year-old sister, Eliana, and 11 year-old brother, Brett James. Our parents, Brett and Jessie Karas, have been married going on 22 years now. We’re a very close knit family. Each time I visit home from college my mom likes to say it’s like a celebrity has arrived from how excited my siblings are to see me,” Emily commented.
Life in the Karas household is as normal as can be. Emily explained how the six go about their lives with a laughter-filled spirit each and every day. Of course, Evy requires some special attention, but they never let that determine how the family as a whole treats their daily living.
Raising a child with special needs, let alone a rare and severe disease, can be daunting to many, but the Karas family embraced it. Filling Evy’s life everyday with the love, laughter, and support has given her the ability to beat the statistics and remain a bright spot in their lives.