by Sue Ann Rybak
Two-and-a-half-year-old Penny Fry, who has Dravet syndrome, sat in her high chair on Thanksgiving Day eating her snack – baked brie and a syringe of canola oil – while her mother Wendy Fry, of Ambler, finished cooking dinner.
Dravet syndrome is a very rare and often deadly form of epilepsy caused by a genetic mutation. The disease involves frequent uncontrollable seizures, medical emergencies, developmental delays, physical complications and compromised cognition.
Nov. 15, 2017, marked the one-year anniversary of the Fry family’s journey with the ketogenic diet, which consists of 90 percent fat in the form of mayonnaise, butter, heavy whipping cream and oil. The diet tricks the body into a starvation state in which it burns fat, not carbs, for fuel. The metabolic process is called ketosis. It has proven surprisingly effective for children whose epilepsy does not respond to medication.
“The diet has helped Penny immensely,” said Fry, who is 32.
But, it hasn’t been easy.
“Everything she eats is weighed to one tenth of a gram,” said the former elementary school teacher. “We make everything from scratch. Like pancakes for example, I will batch cook them. It’s not a typical pancake. Cream cheese and mayonnaise make up the base of the pancake. There is a tiny bit of almond flour and a pinch of baking soda and then I put some cinnamon in them.”
A typical lunch for Penny consists of two wedges of clementine, a pancake with butter on it, two syringes of oil and a slice of pepperoni.
“The journey is hard,” said Penny’s mother. “We’ve been through some really rough patches. When we first started it was just torture trying to get her to take all the different medications she had to take. We used to have to pin her down.”
The diet lacks so many essential nutrients that if Penny didn’t take her current regiment of vitamins: a multivitamin, selenium, magnesium and calcium and two medications to correct ketoacidosis, her growth would be severely stunted and her bones would become as brittle as an 80-year-old’s.
Before Penny went on the ketogenic diet, she suffered from uncontrolled or refractory seizures. Wendy recalled her daughter’s first grand mal seizure, also known as a generalized tonic-clonic seizure, at just eight months old.
“We woke to her seizing the day after Christmas,” she said. “I will never forget. The seizure was 12 to 15 minutes long.”
Most tonic-clonic seizures end normally in one to two minutes, but they may have post-ictal (or after-effects) symptoms for much longer. Status epilepticus occurs when a seizure lasts too long or when seizures occur close together and the person doesn’t recover between seizures. Status epilepticus requires urgent medical treatment to lessen the chance of serious complications. Medical treatment needs to be started as soon as possible. Oxygen and other support for breathing, intravenous fluids and emergency medications are needed.
Fry said the next day her daughter had a seizure and doctors told Penny’s parents that the seizures were related to an illness and she would probably grow out of it.
“Ten days later, while playing in the living room, she seized so violently and for so long that she was airlifted to Children’s Hospital of Philadelphia from a parking lot near our home,” she said. “While she was admitted, her doctors ordered genetic testing and started her on her first anti-epileptic drug. When we received her results a few months later, we learned that Penny has a mutation of the SCN1A gene placing her on the spectrum for Dravet syndrome. This diagnosis meant that more than half the available anti-epileptic drugs are not options for Penny because they can actually make seizures worse with patients with Dravet.”
Fry said the prognosis for children and adults living with Dravet is “grim.”
“Up to 20 percent of children do not survive into adulthood, and those living with Dravet are an increased risk for SUDEP (sudden unexplained death in epilepsy),” she said.
Before Penny went on the ketogenic diet, she experienced status epilepticus almost a dozen times. The diet has been life changing for Penny, who currently attends preschool with a nurse a few days a week. Unfortunately, Penny is not seizure free – she continues to have atypical seizures every day.
“She’s very resilient,” Fry said. “She will be climbing on a ladder and have a seizure mid climb, pause and then continue. They are kind of invisible unless you know. Penny is doing a lot better than most kids. We found a treatment plan that is working pretty well for her. It hasn’t been an easy journey, but now we appreciate things so much more.
While the long-term outlook is grim, and Fry struggles with the reality that her daughter will never be cured, she said she is working hard to remain positive.
“Persistent and incurable medical conditions severely impact every part of a person’s life: every family member and friend, every hope and dream you have for the future, and every minute of every day,” she said. “We recognize that few Dravet families are as lucky to have found a treatment plan that gives them respite from the chaos of frequent medical emergencies, even if only for a little while. Our family motto is to ‘choose joy’ and focus on the many reasons we have to be thankful in spite of Dravet, and we keep that in our minds as we work to pay forward our good fortunes to the Dravet community through fundraising and awareness efforts.”
For more information or to donate to the epilepsy foundation of Eastern Pennsylvania, go to https://www.efepa.org/. For more information or to donate to the Dravet Syndrome Foundation, go to https://www.dravetfoundation.org/.
Sue Ann Rybak can be reached at 215-248-8804 or firstname.lastname@example.org
This article has been updated. An earlier version erroneously stated that Nov. 15, 2016, marked the one-year anniversary of the Fry family’s journey with the ketogenic diet, which consists of 90 percent fat in the form of mayonnaise, butter, heavy whipping cream and oil.