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Glut1 Deficiency Diagnosis

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”

Taking MAD on Vacation!

And being able to go out to eat for grilled chicken and vegetables.

Keeping Keto in Disney World and Universal theme parks in Orlando is going to be a challenge. Drake has been on “The Diet” for three years, and so by now we have lots of experience and practice traveling “on the diet” and packing snacks for the day “on the diet” and even going out to eat “on the diet”. But this is our first vacation flying on a plane and then not going to a grocery store the first day after we arrive. Yikes.

Drake is pretty much doing MAD (Modified Atkins Diet, 1 : 1 ratio) at this point, which makes it a lot easier to go out to eat and order food off the menu. We no longer restrict his protein so he can order plain meat and fish off the menu like: grilled chicken, hamburger with cheese (no bun obviously) salmon, bacon and eggs and even turkey legs. The trick as always will be to get enough fat into him. Continue reading “Taking MAD on Vacation!”

A Quiet Anniversary

January 4th, 2019 marked Drake’s 3 year anniversary on the ketogenic diet. We didn’t celebrate. Life goes on with more challenges ahead.

I still vividly remember the tiny hospital room we occupied for 4 days, 3 years ago. The confusion and worry I felt, the feeling of being lucky and unlucky at the same time. The anger over the gross hospital food we had to make Drake eat. The triumph we felt we when he got into ketosis, and then the anxiety over how we would continue it at home. We left the hospital with Drake in ketosis; weak and shaken, with band-aids on every finger from the blood tests.

Continue reading “A Quiet Anniversary”

Chocolate Pecan Breakfast Cookie 4 : 1

 

 

This is our families absolute favorite recipe! We have been eating chocolate covered pecan cookies for breakfast every morning for over two years now. This recipe is copied from the Keto Cookbook by Laura Cramp and Dawn Marie Martenz with one addition, Lily’s dark chocolate. I melt two squares of chocolate on each cookie in the microwave, spread evenly with a butter knife and refrigerate for an hour or so until hardened. Delicious! Continue reading “Chocolate Pecan Breakfast Cookie 4 : 1”

Lazy Keto

I saw the term “Lazy Keto” on social media recently and thought that quite nicely describes what we are currently doing. We don’t measure out food on a gram scale unless we batch cook a favorite recipe, we don’t count carbs, we don’t check ketones very often and we cook meals that are below the 3:1 ratio he was originally prescribed. We are still very strict about what our keto kid eats, and if I had to guess we are still probably in the 2:1 ratio range.

We aren’t quite doing MAD (Modified Atkins Diet, 1:1 ratio) in which you focus on keeping your carb count to under 20 grams per day (for reference a medium size banana has about 27 grams of carbs and 8 oz of apple juice has about 26 grams of carbs). The 20 gram carb limit varies depending on your dietitians calculations of age, height, weight, BMI and individual nutrient requirements. But we have instead evolved a more give-and-take approach. Continue reading “Lazy Keto”

Happy Rare Disease Day 2018!

The Glut1 Deficiency Foundation has been sharing   (Love) Some1 with Glut1  stories as part of an online fundraising campaign.

This campaign raises awareness of Glut1 and provides funding for programs, projects and services. I am happy to post that Drake’s story has been included in this campaign! Check it out on the G1 Foundation website.

Drake has a powerful and unique story to tell. But unfortunately, like other Glut1 kids, his pathway to diagnosis took several years — this needs to change! It is therefore extremely important to us to raise awareness of Glut1 Deficiency Syndrome and the non-epileptic forms of Glut1 that are currently vastly under-diagnosed — so hopefully, this pattern won’t be repeated for future patients. Plus we are showing how important and life-changing, the ketogenic diet is for mild Glut1 kids too; even if they don’t have seizures.

Check out the Glut1 community video. Drake makes an appearance at the 36 second mark. I think he is a natural in front of the camera!