Silas & Kane’s Glut1DS & Ketogenic Diet Journey

My twin 18-month-old boys, Silas & Kane, just love music and new experiences. We just celebrated our 2nd Christmas! I love watching them light up seeing all the joy around us at this time of year. It brings us so much peace.

First Seizure Experience & a Misdiagnosis

When the boys were just 4 months old, Kane had his first seizure. I was so frightened as I was a new mom. I didn’t know what was happening. We all rushed to our local children’s hospital. While we were there, Silas started having “Aberrant Gaze Saccades”, also known as “Intermittent Involuntary Gaze (IIG)”, which looked like his eyes were crossed. He couldn’t shake out of it and would become very distressed. Lots of tests were being done on the boys and we spent days in the hospital.

One day, a few doctors came into our room and asked my husband and I, “how do you want us to tell you this information?”. My heart instantly broke and I felt a huge lump in my throat as I answered “just tell me straight up.” They told us that my twins had a rare condition called Leukodystrophy. They explained that there was no cure and that they would not live see their 5th birthday. To say I was devastated would be an understatement. I told myself that if there was any way on this earth I could get a miracle of a misdiagnosis, I would do everything in my power to make sure my boys have the best life possible.

Days later, we were so relieved to learn that the boys had in fact been misdiagnosed initially. After more agonizing days in the hospital and lots of blood tests, EEG’s, spinal taps & everything else, we got the REAL Diagnosis: Glut1 Deficiency Syndrome.

Glut1 Deficiency Syndrome & The Ketogenic Diet

Glucose Transporter Type 1 Deficiency Syndrome or Glut1 Deficiency Syndrome is a rare genetic condition that impairs the brain metabolism. Glucose cannot be properly transported into the brain, essentially starving it from the energy it needs to function and thrive. Common signs and symptoms can include seizures, movement disorders, speech and language disorders, and developmental delays. There is no cure and they will live with this condition for the rest of their lives. However, I was exploding with joy when learning that my sons had Glut1 Deficiency Syndrome! You’re all thinking I’m crazy, I know, but I could not stop crying happy tears, as in my eyes, my boys were given a second chance at life compared to the initial diagnosis we were given. I wasted no time in trying to educate myself as much as I possibly could about this condition.

My boys were put on an antiepileptic medication and we were sent home. I was noticing that my boys were not improving. They were still having multiple Aberrant Gaze Saccades a day and they were not meeting their milestones. At our next doctor’s appointment, I expressed my frustration with how the medications were not working and I mentioned that through my research, I read that the ketogenic diet was very successful in managing seizures in children with Glut1 Deficiency Syndrome. They were hesitant as a lot of parents claim that the ketogenic diet is too hard to keep up with. I told them that I need to own up to my promise that I made to myself, that I was going to do everything possible for my boys with this new chance at life. They saw how motivated I was, and they were happy to let me begin.

At first, I was very overwhelmed as I had 2 babies who required this diet. I thought “Can I ACTUALLY do this?”  I was worried that maybe I was a little in over my head. We started the diet at home with the help of a dietitian who helped start the boys out on a ketogenic formula recipe. We slowly worked our way up to the 4:1 ketogenic ratio. Within the first few days, I instantly saw an increase in energy. They were starting to smile, laugh, and hold their head up on their own! I was so overjoyed with how well the diet was working! We weaned off the antiepileptic medication with success! The hard work was totally paying off.

We recently passed our 1-year milestone since they started the diet on December 21st, 2017. The boys have not had a seizure since the day they started the ketogenic diet! I know that there will be challenges as they get older and we may have hiccups along the way, but I am hopeful that the ketogenic diet will keep the seizures suppressed for the most part.

Now that the boys are toddlers exploring new foods, KetoCal® formula makes it SO easy to make really yummy recipes. My boys love cream cheese pancakes that I make with the Ketocal 4:1 LQ Vanilla (recipe below). We have a very busy lifestyle with lots of child therapy & hospital appointments. I just make a big batch of pancakes and bring them on the go! I remember a time when I felt so overwhelmed and I couldn’t think of any ideas of easy meals to make for the boys, so I sent Nutricia a message on Facebook and they sent me TONS of super easy, awesome recipes! I felt like I won the lottery! The boys also love when I use the formula to make smoothies.

The Boys’ Life Today

The boys were off to a rough start the first few months of their lives, which has caused some delays for them. At 18 months old, they still struggle with their balance. They cannot stand on their own or walk. They say “mamma” and “dada”, and they will point to things that they want. The boys are extremely motivated to start walking and they use big boxes to push around the house to help them walk. They attend water therapy, music therapy & physical therapy.

My husband and I made the decision to start a low carbohydrate lifestyle ourselves as we wanted our home to be a place where they don’t feel different or left out. We know that this is something that will be life long, so we want to make this as easy as possible for them. We want them to grow up seeing mom and dad eating the same food as them and to see that eating healthy is a good thing! As they get older, I want them to be able to open the refrigerator or cupboards without having to see food they “can’t have”. It has made me so much more passionate about the ketogenic lifestyle & I could not be more grateful for how it has impacted all of our lives!

Advice for Other Parents

My advice to any parent seeking out the ketogenic diet for their child: If medications are not working and your child is still suffering from seizures, then what do you have to lose with trying the ketogenic diet?  Ask your child’s neurologist about whether the ketogenic diet might be helpful. If you do end up starting the ketogenic diet, be patient and don’t give up! It can be difficult with all the fine-tuning, but I can assure you that it’s absolutely worth it!

– Francine

I was paid by Nutricia for my time to write this blog post, however, my opinions are my own.

KetoCal is a medical food intended for individuals age 1 year and up. It is intended for use under medical supervision.

 

 

ketogenic diet pancake recipe

Silas & Kane’s Cream Cheese Pancake Recipe (4:1 ketogenic ratio):

  • 19 g Egg (raw, mixed well)
  • 15 g Cream cheese
  • 15 mL Formula: KetoCal® 4:1 LQ (measure in mL) Nutricia
  • 1 g Butter
  • Berries (optional; needs to be calculated into recipe)

Directions:

  1. Mix eggs, cream cheese, KetoCal® 4:1 LQ and half of the butter into a batter.
  2. Pour into a greased pan on medium heat and cook until brown; flip and repeat.
  3. Use remaining butter as topping.
  4. Optional – Top with berries (be sure to calculate this into the recipe)

You can also view this recipe on MyKetoPlanner here.

Please note, this recipe is for a 4:1 ketogenic ratio. As always, please check with your healthcare provider to ensure that this recipe is appropriate for you or your child. The recipe may need to be adjusted to meet your ketogenic ratio and calorie requirements.

 

Maya’s Story: Epilepsy & the Modified Atkins Diet

Hi, my name’s Maya, and I’m currently a full-time research technologist at the Johns Hopkins University (JHU) Sidney Kimmel Comprehensive Cancer Center. I’m also in school part-time, pursuing a graduate degree at JHU’s Bloomberg School of Public Health.

Life Before My Epilepsy Diagnosis

When I was in high school, my classes started at 7:20 am, so I had to wake up at 5:45 AM every day. With all the activities that I was involved in at the time, I often didn’t get to bed until almost midnight, and I was sleep deprived most of the time during school weeks. During my junior year, I began to have these spasms, usually right after I woke up, that caused me to drop my toothbrush or even drop my phone every so often. I told my parents about them, but they didn’t think much of them and thought they were due to lack of sleep. My pediatrician at the time also chalked up these spasms to lack of sleep

During that time, I was also preparing for my graduation in classical Indian dance (Bharatanatyam), and my dance teacher wanted me to shed the extra pounds that I had gained in the last few years so that I would have the energy and stamina to get through my three-hour dance recital/exam (Arangetram) in my senior year. So, I had put myself on a strict low-fat diet, and was really watching my calories.

I graduated from high school and got through my dance exam with flying colors, and soon I was off to college, which was located about an hour away from home. I was living in the dorm, but often came home on weekends and continued to participate in dance activities for my teacher’s school.

The Day that Turned My Life Upside Down

In my sophomore year at college, as my class curriculum became more difficult (in particular, Organic Chemistry!), I woke up a few mornings with my muscles so sore that I was unable to move. I had no idea why this was happening, but had little time to think about it. I tried my best to stay ahead of my studies, which meant frequent late nights and skipping meals.

Then came the day that turned my life upside down. One Friday in early October of my sophomore year, I took the train home after my classes were done to teach an evening dance class. After my parents picked me up from the train station, I got in my car to drive to the dance studio, which was about a 15-minute drive. I never made it there.

The next thing I remember is waking up in an ambulance, completely disoriented and thinking I was still on the train. I began to cry and asked for my parents. After that, I fell asleep again and woke up in the hospital hooked up to an IV, with a police officer sitting next to me. “You had a seizure, sweetheart. Can you hear me?” I learned that a couple of minutes after I pulled out of my parents’ driveway earlier that evening, while I was still on the residential street on the way to the main road, I crashed my car into a tree by the side of the road. I had experienced my first grand mal seizure (also known as a tonic-clonic seizure). According to witnesses, I was still convulsing as paramedics pulled me out of the car. I suffered barely a scratch on my nose. The air bag had deployed and saved my life. I had been very lucky indeed, because in a couple more minutes, I would have been on the freeway. My car – the cute little stick shift hybrid that my dad had recently taught me to drive –wasn’t so lucky though. The crash had pretty much wrecked the front end.

My Diagnosis: Juvenile Myoclonic Epilepsy

The weeks following the accident were a blur. It seemed like every other day was a new neurological test. The official diagnosis was Juvenile Myoclonic Epilepsy. This came as a shock since I was healthy in every other way. All those “spasms” I’d been having since high school were myoclonic jerks. The muscular soreness that I had been experiencing some mornings in college was because I had had seizures during the night. The morning of the accident, I had had probably the most severe “spasm” (which I now know was a myoclonic jerk) – I had fallen flat on my face in the bathroom.

The day of my accident, I had been severely sleep-deprived. My parents didn’t know this, of course, or else they would never have allowed me to get behind the wheel of a car that day. The sleep deprivation had almost certainly precipitated the seizures, according to the neurologist. My neurologist also said that the combination of my low-fat diet and sleep deprivation had similarly been at least partly responsible for the myoclonic jerks that I experienced in high school.

Needless to say, my parents were in a state of shock too, and struggling to come to terms with this diagnosis and what was happening to their only child, who had been perfectly healthy until then. After the trauma of the accident and the relief that I had survived unscathed, this was like a double whammy. They began to ask everyone in their respective families if there was a history of epilepsy in any of my close relatives, since the neurologist said it was hereditary in the majority of cases. They found no instance of seizures in the previous two generations.

Medication Problems

I had been put on Keppra® since the initial diagnosis, and although the frequency of my seizures decreased drastically, the side effects began to take over and unravel my life. I was experiencing crippling lethargy and depression, often nodding off in my classes. My grades suffered – I was failing the first semester of my sophomore year of college!

My parents, who are also researchers at Johns Hopkins, sought a second opinion from a Johns Hopkins neurologist. They also wanted to find out if there was any other option for me beyond this medication that was ruining my college life. Coincidentally, they had watched a movie called “First, Do No Harm” starring Meryl Streep. The movie follows the story of Charlie, a young boy who was suffering from a severe form of epilepsy whose seizures were finally managed using the ketogenic diet at Johns Hopkins. My parents immediately contacted the Hopkins Neurology department, and I was able to meet with a new doctor within a couple of months of my accident. That’s how I met Dr. Mackenzie Cervenka.

The Modified Atkins Diet (MAD)

After my first appointment at Hopkins with Dr. Cervenka, we learned that there was a new trial being carried out on adult patients for a diet that is much more compatible to an adult lifestyle – the modified Atkins diet (MAD). It maintains the same concepts as the ketogenic diet but with a few variations so as to allow an adult to follow it easily. My initial excitement at this new diet was short-lived, however, when I learned that it precluded most Indian food and that I would have to abandon the veganism that I had recently adopted as an avid animal lover. However, I wasn’t going to allow my epilepsy to control me; I was determined to control my epilepsy. My parents and I were invited to attend a presentation by the Hopkins Neurology Department to a group of prospective keto patients where they also gave us some tips and tricks for starting and sticking to the diet. KetoCal® was the first product introduced to us, and honestly it is still my go-to product when I need an extra boost of fat and nutrition in my diet.

The start of my diet happened to coincide with my winter break from school in December of 2014. My parents and I spent the break in Texas on a previously arranged vacation. The whole trip was a conglomeration of long, frustrating trips to supermarkets and specialty low carb diet stores across the Lone-Star state, while feeling horrible as my body adjusted to the almost complete lack of sugar/carbohydrates in my diet.

I remember spending about an hour and a half at a grocery store in Houston, reading the nutritional labels for everything – including foods labeled “healthy” and even “sugar-free” – and realizing that I couldn’t eat 99% of what was on the shelves. We went to a natural food store in Austin and bought some horrendous coconut paleo bread that I could not get down my throat, even after toasting the heck out it. We walked along the River Walk in San Antonio, and I couldn’t eat at a single restaurant along the way. The only things we did actually buy on the River Walk were some low carb protein shakes from a convenience store!

Seizure Control & Having My Life Back

After what felt like the longest two weeks of my life, I managed to somehow coax my body into ketosis. Thankfully, all my work and sacrifice were worth it. In April of 2015, I was able to celebrate 6 months seizure-free for the first time since high school. It was the best feeling ever. My depression went away, and my grades picked up. I felt like I had my life back. In the spring of 2017, I graduated on schedule with a Bachelor of Science degree. This November (2018), I celebrated two years seizure-free, and I’m hoping to begin reducing my medication soon.

Along the way, I also mentored a student with autism and volunteered at the local children’s hospital, where I spearheaded and raised $1,000 for their 2017 dance marathon fundraiser (where I danced for 12 hours straight). I was also Program Director for my university’s Autism & Neurological Disorders (AND) Initiative and held leadership posts at several student organizations and events. Additionally, I participated in the National Walk for Epilepsy every year. Best of all, I managed to land a research job at Johns Hopkins University right after graduation, where I currently work while taking a couple of years to figure out how to launch the next phase in my academic career.

This modified Atkins diet (MAD) has not only served as a source of freedom from my epilepsy, but it also became my inspiration. I aspire to become a physician who, among other things, specializes in administering this diet in more locations worldwide. I am currently studying mental health and hope to shed light on this aspect of patient care in those with seizure disorders.

Advice for Others with Uncontrolled Seizures

For those who are experiencing trouble in controlling their seizures or the side effects from their medication, I highly recommend that they speak to their neurologist about getting on the ketogenic diet or the modified Atkins diet (MAD). I was once in a place where I believed that the side effects were something I would have to deal with for the rest of my life. But as my dad said to me in the days after my accident, and what I‘ve had tattooed on my wrist since then: “This too shall pass.”

Due to this remarkable diet, the worst has indeed passed, and I couldn’t be more grateful. I’m currently training to run a half-marathon this December (2018) for the second time in my life – the first time was in my freshman year at college – a few months before I had my accident.

Thank you so much for reading my story!

-Maya

Disclaimers:

I was paid by Nutricia for my time to write this blog post, however, my opinions are my own.

The ketogenic diet for epilepsy should be done under medical supervision.

KetoCal is a medical food and is intended for use under medical supervision.

Please note that this is one individual’s report of her experience with the ketogenic diet and may not be the experience of others. Individual results will vary. Please discuss the potential benefits of the ketogenic diet with your healthcare provider.

Keppra® is a registered trademark of UCB BIOPHARMA SPRL. and is not affiliated with Nutricia. 

 

Are you interested in sharing your experience with the ketogenic diet or modified Atkins diet (MAD) for epilepsy? Contact us at myketocal@nutricia.com.

KetoCal® Air Travel Tips

Traveling for the holidays? We want to make sure you have no trouble taking your KetoCal with you. Here are some tips for air travel with KetoCal:

Ship it ahead of time:

When possible, many families prefer to ship KetoCal to their destination ahead of time. When you purchase KetoCal from Nutricia, shipping is free for orders over $25. You can order by calling 1-800-365-7354. We recommend that you order a week or so in advance so that you don’t have to worry about whether or not your formula will get there in time for your arrival. Be sure to ask your family/friends/hotel staff to store the KetoCal indoors at room temperature (it should not be stored outdoors in cold weather).

Flying with KetoCal:

Medical Necessity Letter: When flying with KetoCal, we recommend that you get a letter from your doctor or dietitian explaining that KetoCal is a medically necessary formula used with the ketogenic diet for the management of epilepsy/Glut1DS/PDHD. You may not need it, but it never hurts to have it in case you have any trouble getting your KetoCal through security.

Checked Luggage: If you are packing KetoCal in your checked luggage, it might be useful to include the medical necessity letter in your bag in case it gets searched by the Transportation Security Administration (TSA).

Carry-On Bags: If you are bringing KetoCal in your carry-on bag, be prepared for some additional screening and give yourself extra time so that you aren’t stressed about missing your flight. Be sure to pack a little extra formula in case of flight delays, which are fairly common during peak travel days around the holidays.

As you likely know, there are limits to the quantity of liquids you can carry on when flying (3.4 fluid ounces or 100 milliliters). Luckily, formulas and medically necessary liquids are exempt from this quantity limit, although they require extra screening. As soon as you arrive at security, notify the TSA agent that you are traveling with medically necessary liquid formula. Have the medical necessity letter from your healthcare provider handy in case you need it. If you do not want the formula to go through an X-ray or to be opened, notify the TSA officer. You will have to go through additional screening in this case, so be sure to give yourself extra time.

Powders may also require additional screening at TSA checkpoints. When you arrive at security, notify the TSA officer that you are traveling with medically necessary powdered formula. Have the medical necessity letter from your healthcare provider handy in case you need it.

  • Ice packs: Ice packs, freezer packs, gel packs, and other accessories used to keep your formula cool are allowed through security as long as they are frozen or partially frozen. Like formula, they may require additional screening.

For more information, check out the TSA guidelines for travel with medications, including liquids, and for travel with children, including formula.

Happy Holidays and Safe Travels!

Mallory

 

KetoCal is a medical food and is intended for use under medical supervision.

The ketogenic diet for epilepsy should be used under medical supervision.