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.
It’s hard for me to talk about our four-day stay in the hospital. It was such an emotional rollercoaster for Ken and I. On one hand we finally had our answers, we were finally getting the treatment that our son desperately needed — which was definitely a cause for celebration. But on the other hand our son had to go through an awfully challenging time; which fortunately showed us just how resilient he could be. And we were about to change his relationship with food for the rest of his life.
Our son, Drake, was 6 years old when he was diagnosed by genetic testing — a mutation in the SLC2A1 gene was discovered, therefore Glucose Transporter Type 1 Deficiency Syndrome (Glut1 Deficiency). Prior to that he had been incorrectly diagnosed with Episodic Ataxia since the age of three. Most patients come by their diagnosis by doing a lumbar puncture first (which reveals low glucose levels: CSF of less than 60 mg/dl) and then the genetic testing. But we did it second, so our first day in the hospital consisted of a lumbar puncture (to confirm the Glut1 diagnosis) and getting Drake hooked up for a 48-hour video EEG observation — to see if perhaps he was having mild seizures that we hadn’t noticed before.
Until this point I had no idea how many different types of seizures there are, and how difficult some can be to spot. Fortunately the EEG confirmed that he doesn’t have seizures, corroborating that Drake is in the 10% of (diagnosed) Glut1 Deficiency patients who do not. The second day was to continue the video EEG observation and to start the Ketogenic Diet.
I have to laugh at how far off I was in imagining starting the Ketogenic diet in the hospital. I imagined a little kitchen in which my dietician would do cooking lessons with me. I imagined preparing yummy keto food (I had already done some experimenting at home and I knew just how yummy keto food can be!) and Drake happily eating every bite. I imagined having in-depth conversations with doctors and the dietician and having all my wits about me and emotions under control. Bawhahahahahahaha. First off, I should be forever thankful that there even is a Ketogenic program at our nearby hospital AND that it was covered by insurance. Second, I should have known that starting a strict regimented diet WITH hospital food is not going to be pretty.
There wasn’t a moment of peace in the hospital. Every hour or so, day or night, we had someone in our shoebox of a room. We had the doctors who wanted us to explain Drake’s entire medical history from scratch, even though they had not even looked at his chart. We had the nurses who pricked Drake’s finger ever four hours day or night to check his blood glucose levels. We had the nurse who checked his vitals, including blood pressure every couple of hours and a nurse who would come in with Drake’s Diamox medicine three times a day (we eventually weaned him off it over the next 8 weeks), plus the person who delivered Drake’s food tray from the kitchen.
Our dietician visited a couple of times a day to check on our Keto food tray and to teach us how to use the digital gram scale — which as it turns out is pretty easy to use. Learning how to use a scale was way easier then learning how to get your kid to compliantly eat carefully weighed and measured meals. The dietician also gave us a thick notebook of information to look through — which including our calculated meal plan of twenty recipes, and what steps needed to be taken for Drake to avoid dehydration, metabolic acidosis, hypoglycemia, severe ketosis, and kidney stones, whew! Plus a long list of vitamins Drake had to take several times a day to offset an unbalanced diet, and the Charlie Foundation approved low-carb products we needed to start using right away; that ranged from Keto approved toothpaste to shampoo to sunscreen.
We put a lot of pressure on Drake to eat the high-fat hospital food. If he didn’t reach steady ketosis we would have to stay an extra day. If he didn’t maintain ketosis we would not have a treatment plan to follow. And it was the only treatment option available to us! So he darn well better choke down that gross hospital food I had just measured within a tenth of a gram on the scale for him.
It didn’t matter that he had a rough and symptomatic second night, he still had to eat and drink the high-fat food. It was definitely hard to see our good eater, who after being poked and prodded, talked about like he wasn’t there, whom we pressured into eating every single bite or else, withdraw into himself to the point where he wouldn’t even pick up a fork to feed himself!
Ken and I were frustrated that we had to seemingly force feed our sweet son hospital classics like microwaved eggs and cream, smelly chicken swimming in a bowl of mayonnaise, ancient baby carrots swimming in a bowl of ranch dressing, and then having him wash it all down with heavy cream. To us, the goal seemed to be to have him still eating while gagging.
We had the Chief Pediatric Neurologist make his rounds with a team of about 10+ doctors every day, and then we finally had our few precious minutes to talk with an expert and receive pertinent advice. Thank god Ken is a skilled public speaker who is great at thinking on his feet, and can hold a conversation with a roomful of doctors.
Those four days in the hospital were one of the most trying times that Ken and I have ever been through. By the end we were both an emotional wreck. We had vast amounts of information we had to immediately understand and implement, we had a dietician who gave us outdated information and who frustratingly wasn’t giving us advice specific to Drake. We had a meal plan of gross food combinations like sugar-free (i.e. aspartame) jello, sour cream, cheese and heavy cream (yuck! how am I supposed to make that palatable). Our sweet sensitive boy left the hospital seemingly broken, shaky and weak.
We were all very happy to get back to our wonderful home, to our comfy beds, to some privacy, and to our younger son that the grandparents had been looking after. And I gave a little hug to my kitchen island, and to the fact that I could finally prepare yummy Keto meals for Drake in my awesome kitchen. I still think some of the success we have had with this diet comes from the fact that I’ve been cooking yummy food FOR Drake, that he actually enjoys eating.