Three days after we got home from the hospital we went rebel.
I was extremely frustrated with the twenty recipes I had been given — three of which contained sugar-free jello, which is sweetened by aspartame instead of sugar, a no-no in my book (because of medical controversies associated with it). Our dietician wouldn’t give us a username and password to ketodietcalculator.org until Monday (a wonderful website that enables parents to calculate meals for their kids based on their ratio and calorie count), which was one day away, and we were entering food war territory over the amount of heavy cream Drake had to drink with every meal. The only recipe I had in which the heavy cream was cooked in, was the eggs, butter and cream recipe, and I desperately needed more like that — in which the fat is “baked in the cake” so to speak.
Drake was so stressed out from the hospital stay and the gross food combinations we were trying to get him to eat that he wouldn’t even pick up a fork and feed himself. We set up the iPad for every meal and let him watch videos while we fed him, not a sustainable scenario at all! The first time I made the Breakfast Cookie recipe I was terrified about doing so because it was at a higher ratio, a 4:1 ratio rather than Drake’s 3:1 ratio (which I could have easily remedied in the ketodietcalculator).
Continue reading “An Ode to the Breakfast Cookie”
Glut1 Deficiency is a rare neurometabolic disease in which the protein responsible for moving glucose across the blood-brain barrier and into the brain is mutated or missing — causing a myriad of symptoms that range widely in severity among patients. The Ketogenic diet controls these symptoms by focusing on what the primary issue of Glut1 Deficiency is — an energy failure in the brain.
The Ketogenic diet is a high fat, low protein, low carb diet that causes the body to produce and burn ketones for fuel instead of glucose. Starting the diet as soon as possible is imperative so children’s brains can develop and grow and no longer be starved for energy or be permanently affected and disabled by Glut1 Deficiency. But because of the lack of awareness within the medical community many children are not being correctly diagnosed or diagnosed at all. Plus, right now 90% of Glut1 patients have seizures, so the other 10% who do not, who have the movement disorder type of Glut1 like Drake, are not even on the radar for having it. That is why I’ve started this blog —to raise awareness for this rare-disease that is also very rare in having a treatment option that works for most kids. If your kid is diagnosed with Glut1 Deficiency they will need to start the Ketogenic diet in the hospital and then continue to be medically supervised at home and do hospital/lab visits every few months.
Continue reading “The Ketogenic Diet — Hospital Initiation Experience”
Challenges of a Rare Disease
Following a diagnostic pathway for a rare spectrum-disease can be a muddled and troublesome journey. Finding the right diagnosis can be confusing and many times involves your child being misdiagnosed or undiagnosed. When your child’s symptoms don’t quite fit the mold of a rare disease, especially one that varies in its severity, it is not uncommon to wonder if the textbook symptoms need to be elaborated upon. Or perhaps your child actually has a different diagnosis altogether. Continue reading “Glut1 Deficiency Diagnosis”
This blog is dedicated to raising awareness about the movement disorder type of Glut1 (also known as, non-epileptic Glucose Transporter Type 1 Deficiency Syndrome) and the only known treatment, the ketogenic diet.
Outside my window it’s a beautiful fall day, and I’m feeling pretty inspired that I can finally write down my thoughts about Glut1 Deficiency Syndrome (Glut1 that presents with Ataxia) while my boys are both in school. Chase has just started Pre-K. And Drake, my 7-year-old Glut1 son, is tracked back in until mid-November (yay!!! the joy of year round school) and doing very well in 1st grade.
Continue reading “Raising Awareness of Glut1 DS Ataxia – First Blog Post”