Revisiting Our Diagnostic Journey

Owen was--as you are all aware--diagnosed with Dravet Syndrome about five years ago. This diagnosis however was merely based on Owen's physical characteristics, his intractable epilepsy, and developmental delay. Geneticists never found a genetic mutation linking him to the disorder. With that being said, we have always held on to a shred of doubt about this diagnosis. There were always questions, for example, "Why has Owen never had febrile seizures or seizures that last hours, or even minutes? Why do Owen's seizures seem to mostly revolve around food and mealtime? Why does Owen not possess behavioral or social issues?" Though Dravet Syndrome is a spectrum disorder and every child is different with this disease, we still wanted to look further. 

A few months ago I started this journey of looking further into Owen's diagnosis upon seeing an episode of The Doctors about a girl who suffers from Glut1 defiency. She had over 200 seizures a day; her symptoms were very similar to Owen's. Glut1 is a neurological condition in which this particular neurotransmitter transfers an insufficient amount of glucose to the brain; therefore, the individual's brain is "starving." RED FLAG. Blake has a glucose issue. Could these two diseases be related but yet present themselves differently in each child? I continued to search Owen's past medical records and compare them to online research to see what I could find. Here's what I came up with (warning: medical jargon ahead, proceed with caution:)):

1. Glut1 kiddos almost never have behavioral/social issues. This is true with Owen as well.

2. Owen was never tested for the Glut1 mutation in all the genetic testing we had done.

3. Owen showed an elevated T3 in his genetic testing, and his geneticist was positive we would find something from this result. Much to her surprise, we found nothing. An elevated T3, from my research, is linked to Glut1.

4. Owen's medical records showed a low glucose reading; however it wasn't I guess low enough to raise a red flag at that moment. 

5. Other signs and symptoms that Owen possesses related to Glut1: microcephaly (small head circumference) and strabismus (eye turning and lack of focus)

6. Glut1 is often misdiagnosed for other disorders such as Lennox-Gastaut or DRAVET SYNDROME.

7. And finally, Glut1 kiddos almost always respond well to the ketogenic diet. Well, Owen tried the diet for a year and 8 months and it didn't work; he ended up vomiting every meal for 3 months, then his dr ended up finally taking him off of it. That puzzled us.....until we found out that Owen is severely lactose intolerant. We were shoving heavy whipping cream, cheese, and butter down his throat, expecting this to work (hence the vomiting:(). Fast forward to the present. I took it upon myself to start Owen on a modified keto diet (high fat and protein, low carb). After two weeks of no seizure decrease, Owen all of a sudden showed significant seizure reduction. A UA at the time showed he had a trace of ketones....which means it was working!!! 

Now, I'm not saying Owen for sure has Glut1. But deep down in my heart I've always had huge doubts about this Dravet diagnosis. Therefore, at his last neurology appt, Owen gave blood for an epilepsy-related gene panel that tests 55 genetic mutations, including Glut1. We are waiting for the results, which should be back the first week of August or so. I wish I could conclude this blog post with a different diagnosis, but instead I will conclude with a TO BE CONTINUED.....