Epilepsy. Doose Syndrome. Lennox-Gastaut.
While no parent expects to hear those words, he or she is even less raedy to learn that those words are wrong.
RareConnect.org describes when Macie was only 22 months old, her parents learned that she had epilepsy. She’d been having seizures, which included absence seizures, since she was a year old, so this diagnosis wasn’t a surprise. And with the knowledge of epilepsy came the knowledge of a variety of treatments.
The problem was that none of the medications helped Macie’s seizures and left her so groggy that she always seemed to hover between asleep and awake, living her life in a fog. Needless to say, that make her seizures even worse.
Macie’s parents noticed something interesting about her seizures: they seemed to get worse when she was hungry, and clear up after she’d eaten. Since medications weren’t having any affect, they decided to have Macie try the ketogenic diet.
The ketogenic diet is a low-carb, high-fat diet that can help certain medical conditions, like epilepsy. And it’s not the easiest to follow. The goal is to reach a state of ketosis, where you body burns fat instead of sugar.
Finally, there was something that worked for Macie! For two years she was seizure free and medication free. But just when her parents thought everything was going well, her seizures came back with a vengeance.
Nothing worked. Changes to her diet, different combinations of medicines, and even Vagus Nerve Stimulation did nothing. Macie’s parents were left with no choice but to pull her out of school.
Thankfully, Macie’s parents were both active in the communities surrounding Macie’s condition as the diagnosis moved from epilepsy to Myoclonic Astatic Epilepsy (Doose Syndrome) to Lennox-Gastaut. Through conference for Pediatric Epilepsy Syndromes, they learned so many new things that made them doubt Macie’s diagnosis.
Then, a conversation on a Yahoo group raised some questions about Glut1 deficiency syndrome. This got the ball rolling for Macie’s parents, but they had to pass a number of hurdles in order get a diagnosis. Those hurdles were doctors.
Doctors who didn’t think she had the GLUT1 DS deficiency syndrome symptoms, didn’t want to order tests and didn’t understand why her parents were pushing. Finally, Macie’s parents connected with a neurologist who took them seriously, who ran the tests (including a genetic test), and confirmed that Macie has GLUT1 DS.
However, there are no treatments for GLUT1 DS deficiency…except the ketogenic diet!
Macie’s treatment came full circle, though her parents did have concerns that if the ketogenic diet failed before, it could fail again.
But so far, so good! While not seizure free, Macie’s life has improved by leaps and bounds. But in the back of their minds is that fear: What if the diet fails? We can’t answer that, but we support Macie 100%!
That’s why research into treatments for Glut1 is so important. So cheer on Macie and her family, and others living with GLUT1 DS by sharing her story and spread awareness!
