France Gauthier, left, and Louis Trudelle are Emma’s grandparents and supporters of the fundraiser.Supplied
The organizers: Sarah Trudelle
The pitch: Raising $10,000 and climbing
The cause: Support a special diet for people with neurological conditions
Shortly after Sarah Trudelle’s daughter Emma was born last year, she began having seizures.
At first, Ms. Trudelle and doctors thought Emma had epilepsy, and for a while, medication helped ease the episodes. But Ms. Trudelle still felt her daughter’s condition was something else.
“Between four and about nine months we were back and forth, in and out of the hospital trying to get answers,” she recalled from her home in Burlington, Ont. “At nine months we were able to control her seizures, but that’s when as a parent I was like, ‘There’s more. It’s not just seizures.’”
It wasn’t until Emma was a year old, last March, that she was diagnosed with Glut1 deficiency, a rare genetic mutation that causes insufficient production of a protein called Glut1, which carries glucose to the brain to use for energy.
There is no treatment or cure. It can be managed through a special medical ketogenic diet that allows Emma’s body to use ketones as fuel instead of glucose. But following the diet is painstaking and involves measuring every gram of food.
The diet consists almost entirely of fat, which means Emma eats things such as butter cubes, as well as avocado and coconut oils. She has some protein and a minimal amount of carbohydrates. But the portions are small and Emma’s body burns off the calories instead of storing them.
To Ms. Trudelle’s relief, researchers in Canada and New Zealand have developed a website with recipes and services that help families manage portions and plan meals. Ms. Trudelle said she can enter a list of ingredients and the site, called Ketosuite, will calculate how many grams of each item she should prepare. “I’ve realized I can’t live without it,” she said.
Her family has started raising money to support the researchers running the site and raise awareness about how the diet could benefit people with other neurological disorders, including epilepsy. “Our hope is to develop a keto recipe book for families as a starting point linked to that software,” she said, adding that so far they have raised $10,000.
Emma hasn’t had seizures in more than a year and, thanks to the diet, “she’s developing really well,” Ms. Trudelle said. “And thankfully she likes the diet. Not all of us would love to eat butter cubes, but she loves it.”