An Answer: 33 Months in the Making

Oh friends! It’s been a while. Not that I haven’t begun several posts and then found myself completely uninspired and just walked away… I felt like I was on fire there for a while, but then I hit this slump where everything just felt forced and I knew that it wasn’t what I wanted to put out there for the world to read.

Today is different. Over a year after my last post, I finally feel that tingling of inspiration. Much has happened over this last year and we are currently on the most intense spiritual high that I, personally, have ever experienced. I have chronicled the medical journeys of my two beautiful little boys to some extent, but as the demands chronic medical conditions became more normal than novelty, I stopped sharing. We were just doing life and that was it. It has been a frightening and exhausting time, but we finally know what is wrong with our oldest boy (DS4)! Are you ready to hear the news?

He has been diagnosed with a rare genetic condition called Glut1-DS. Only about 500 (I have come across other numbers ranging to 5000) cases have been reported worldwide, but there are likely many others that have not been diagnosed (Genetics Home Reference). My son has a rare manifestation of this disease which is what made it so difficult to detect.

I bet you are wondering what Glut1-DS is, aren’t you? Basically, those with this mutation of the SLC2A1 gene do not have glucose transporters to get glucose across the blood-brain barrier. Their brains are starving. Most are diagnosed as babies because their heads stop growing and they are having seizures. It is believed that my son does have some transporters because his brain has grown normally and he has no cognitive deficits. We are incredibly thankful for this because our understanding is that cognitive delays never recover with treatment. My son’s dysfunction has shown in epilepsy, fine and gross motor delays, episodic ataxia, and dystonia. If it weren’t so heartbreaking, I would share a video of how he would flop around unable to stop moving his legs. Once, one of his legs completely stopped working.  Thinking back on these things completely breaks my heart, but, as we know, God is good all the time. The silver lining in all of this is that it is fully treatable with, wait for it, DIET.

That is literally the only current treatment for Glut1-DS, and because he does not have any cognition issues, EVERY symptom is supposed to improve or completely subside. I spent about a week with bouts of crying because I really don’t think I have ever felt such happiness. Many terrible things have happened in my life, but nothing like watching your child suffer with no answers as to why. God has shown me that sometimes terrible news like a rare genetic condition is really the best news. The news you will be praising him for even on the other side of glory.

While this diet is life-changing and miraculous, it is difficult and fraught with challenge. There is a whole side of the medical world that many have never heard of and it comes under the name of “Ketogenic Diet Therapies“. These diets are used to treat a number of conditions: epilepsy, brain/tumor cancer, autism, Alzheimer’s, traumatic brain injury, Parkinsons’, ALS, and mitochondrial disorders. There are also different diets that fall under the umbrella of Ketogenic Diet Therapies: Classic & Modified Ketogenic Diet, MCT oil diet, Low Glycemic Index, and the Modified Atkins Diet (MAD). Our family lucked out and we are able to treat our son’s disorder with the “easiest” of the diets, the Modified Atkins Diet.

However, the difficult part is that he can only have 10 net carbohydrates per day. To put that in some perspective, here are some numbers for you:

  • 1.25 TBS of apple = 1 net carb
  • 1/3 cup green beans = 1 net carb
  • 10 almonds = 1 net carb
  • 2 medium baby carrots = 1 net carb
  •  1/2 TSP of banana = 1 net carb

You can see that even with that tiny bit of fruit and veg, we are already up to 5 net carbs.  Essentially, fruits, beans, and grains are off-limits and vegetables are prioritized, when it comes to carbohydrate. I have found some fruits that are easier to incorporate than others  so he still gets these. This has been the hardest part for us because I had already changed the family to the Paleo Diet so we weren’t eating grain, legumes, or dairy. My heart broke a little bit when I saw how restricted fruits and vegetables are, but I have been working to expand him into some vegetables that he hadn’t liked much previously such as cabbage, spinach, and lettuce. Leafy greens are the lowest carb vegetables out there and packed with nutrients so I have some hope 🙂

The bulk of this diet is fat and protein. Scary, right? Well, you will find with a quick internet search that the latest diet craze is the Keto Diet. Yup, just like the Atkin’s diet of the 1990s, this high fat, high protein diet causes weight loss. That is because when you deprive your body of carbohydrate, your body must burn fat for energy. The interesting part of this is that the by-product of burning fat is a substance known as a “ketone” which is the one other fuel, aside from carbohydrate (glucose), that has access to your brain. That is why this works for those suffering from Glut1. Once the body is in a state of ketosis, the brain has access to fuel and can begin to function properly. This is absolutely fascinating.

I could go on and on, but I think I will leave you all with some troubling thoughts I have had since Day 1.

If you found out this diet could treat a disorder of a family member, do you think that you or that family member would be able to keep up with it? I have heard from medical professionals that there is a high rate of failure with this diet, and that breaks my heart because, with this disease at least, it is the ONLY treatment. There is nothing else aside from a life of brain dysfunction. If you read up on the Classic Ketogenic Diet, you will find that there are specific ratios of fat to carbohydrate and protein that have to be met with each meal and snack. This is not done with your every day volume measurements, but with weights. This diet must be started in the hospital and requires a high level of attention, skill, mathematical knowledge, and dedication. I was very thankful we did not need to do the full ketogenic diet. However, I can easily see how family would struggle even with this Modified Atkins Diet.

I come to this with a very unique skill set. I grew up in a family that was SERIOUS about cooking. I have been learning how to use the kitchen and all that nature provides since I was able to stand at the counter on a stool with my grandma. I continued to self-educate myself in the kitchen because I thought I would someday be a chef (ha!). I ended up going to college for human development, psychology, and public health which, naturally, had a heavy focus on nutrition. And lastly, I have rather strong math skills. I have lost a lot over the years, but in the past month or so, I have been using math and research skills that I have not tapped into for many years. This leaves me to wonder, what if my life had not been ordered in this fashion? Where would that leave us?

I know there are many families out there that find this much more difficult that I do, and for good reason. This is not easy, it is not fun, and there seems to be very little support. I have no idea who I would turn to if I didn’t know how to prepare the specialized foods that my son needs. I was given some websites to refer to and I have pretty good access to a nutritionist, but who would I lean on for daily support? Who would help me acquire the culinary skill necessary to pull this off? Not to mention the much more detailed understanding of nutrition that is required.

I hope to be that support to someone. Hopefully, many someones. I don’t know exactly how to go about doing that, but I am going to start with my blog. I don’t know what that will look like, but I plan to look to God throughout this searching and have faith that he will direct those to me that can use my experiences and ability to teach to improve their success with this treatment. Don’t get me wrong, I have a lot to learn still, but I am bringing a lot to the table, including my years in social services.

Please, share this post like crazy. I don’t want anyone to feel alone on this journey. There may also be people out there that need to know this treatment is an option. This is just a beginning and God will take care of the rest.

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Enjoying frozen candy made almost entirely of butter. Haha

A little background:

Seizures? Are You Freaking Kidding Me?!?
How Do I Survive This?
A Mother’s Reflection on Two Months of Absurdity
2013: The Year of Love & Strength

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7 thoughts on “An Answer: 33 Months in the Making

  1. Helen Schneider says:

    1) So glad you are finding answers and working the solution out.
    2) Isn’t it amazing when God prepared you for today’s challenges by the interests and choices you made before you even knew it would be relevant? I feel that way with my son’s dyslexia – He was preparing me to be a good teacher for a dyslexic person even before I knew Him. We are so blessed.

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  2. I am so happy to hear from you and hear that you have a solution to help your son. I can only imagine how relieved you were when you got the diagnosis. Thoughts and prayers to you and your son for the change in diet to work. Take care.

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  3. Wow this is amazing. Thankful for you that God provided answers! I went to school at Oregon State for Dietetics and although I am not a registered dietitian I do have several contacts who are – professors I had and a few class mates. I just thought I would let you know in case you ever need others to problem solve diet issues with. I am so encouraged by your story. Praying for your family 🙂

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    • That’s fantastic! I will certainly keep that in mind. Feel free to pass along my info too in case they need any information for work they may be doing. I love helping out with research and aiding in other’s education 🙂

      I went to OSU, also!

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