refractory epilepsy

Ask the Keto Dietitian Series: Dravet Syndrome

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A Q&A with ketogenic dietitian Robyn Blackford, RDN, LDN. For more posts in our “Ask the Keto Dietitian” series, click here.

Can you tell us a little bit about yourself and your work as a ketogenic dietitian?

Hello! My name is Robyn Blackford and I am one of the ketogenic dietitians at Lurie Children’s Hospital in Chicago. I have been a full-time ketogenic dietitian in pediatrics for 15 years. Our center manages close to 300 patients on the medical ketogenic diet. I believe that the medical ketogenic diet has incredible possibilities and that all patients have a right to try the diet and be carefully followed by an expert medical ketogenic diet center.

I am also one of the Keto Ambassadors for Nutricia in North America, where I spend time mentoring and teaching the medical ketogenic diet to healthcare professionals.

On a more personal note, I have been married to my husband, Jason for many years and am the mom of 2 teenagers.

What is Dravet Syndrome?

Dravet Syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. This epilepsy diagnosis affects 1 in every 15,700 individuals and 80% will have a mutation in the SCN1A gene.

What are the symptoms of Dravet Syndrome?

A study published in 2015 describes how patients with Dravet Syndrome typically have at least 4 of the 5 following symptoms:

  • Normal or near-normal cognitive and motor development before seizure onset
  • Two or more seizures with or without fever before 1 year of age
  • Seizure history consisting of myoclonic, hemi-clonic, or generalized tonic-clonic seizures
  • Two or more seizures lasting longer than 10 minutes
  • Failure to respond to first-line antiepileptic drug therapy with continued seizures after 2 years of age

Do you have patients with Dravet Syndrome who are following a medical ketogenic diet?

Yes, our Epilepsy Center has a vast number of patients with Dravet Syndrome and many of them are on the medical ketogenic diet. Since patients with Dravet Syndrome tend to be in the intractable epilepsy category, meaning that they do not respond to first- and second-line medications, the medical ketogenic diet is often suggested as part of their next-line options.  Our Epilepsy Center has been responsible for many research studies involving those with Dravet Syndrome and their families.

Is the medical ketogenic diet helpful in managing seizures for patients with Dravet Syndrome?

Yes, the medical ketogenic diet can be quite helpful in managing seizures in those with this epilepsy syndrome. Since this diagnosis can be made early in life, I like to use the diet as part of their regimen as early as possible. I have seen many times where an early diagnosis and precise management can lead to successful seizure control and positive outcomes for our patients.

Is the medical ketogenic diet helpful in managing seizures for patients with Dravet Syndrome?

Yes, there is research supporting the use of the medical ketogenic diet for patients with Dravet Syndrome. The Dravet Syndrome Foundation (DSF) website has a lot of information on past and current research studies for those with Dravet Syndrome. Included on the site is the Patient-Centered Outcomes Research (PCOR), which provides patients and their clinicians with evidence-based information in order to help them make more informed health care decisions and answer questions about the potential benefits and risks of different care options. The medical ketogenic diet is included in the PCOR.

In 2013, Dr. Linda Laux and I published a paper that found 65% of children with Dravet syndrome at our center following the medical ketogenic diet experienced a greater than 50% reduction in seizure frequency.

Do your patients with Dravet Syndrome typically remain on their antiepileptic drugs (AEDs) while they are following the medical ketogenic diet?

Yes, many patients with Dravet Syndrome remain on some AEDs. But, the wonderful team of professionals with whom I work always aim for the least amount of seizures with the least amount of side effects possible. So, they are always looking for ways to decrease medications without losing the seizure control that they have. They look to balance quality of life with the seizures. I feel like the medical ketogenic diet is a great addition to a seizure management plan, especially when it’s taking the place of a sedating medication that is not helpful to a patient’s quality of life.

Is there a specific type of medical ketogenic diet that is recommended for patients with Dravet Syndrome (for example, classical ketogenic diet, modified Atkins diet, etc)?

No, there is not one specific type of medical ketogenic diet that is recommended. Any of these versions of the diet can be helpful for seizure control. The preference for diet options may depend, for example, on the age and feeding differences between patients. So, please discuss these issues with your child’s neurology and/or keto provider.

How long do patients with Dravet Syndrome typically stay on the medical ketogenic diet?

Patients can be on the diet for as long as they need to be to help manage seizures. The keto team will require intermittent visits for follow up and blood work to assess the safety of the patient for the duration of the diet. Often times patients are on the diet for a few years before attempting a wean of the diet or simply going to a less restrictive version of the diet (such as the modified Atkins diet) for maintenance. If the medical ketogenic diet fails to be beneficial, then it would be stopped more quickly according to the plan from your keto team.

Where can families of Dravet patients find more information about the medical ketogenic diet?

Here are some of my favorite websites to visit for more information:

References:

Laux L, Blackford R. The ketogenic diet in Dravet syndrome. J Child Neurol. 2013;28(8):1041-1044. doi:10.1177/0883073813487599.

Wu, E., et. al. (2015). Incidence of Dravet Syndrome in a US Population. Pediatrics 136(5): 1310-e1315. doi: 10.1542/peds.2015-1807.

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Reagan’s Story: Epilepsy & the Medical Ketogenic Diet

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Reagan eating her medical ketogenic meal at a restaurant

First Seizure

It is a day I won’t soon forget.  March 2013, Reagan and I took a girls’ road trip to Connecticut for my cousin’s baby shower.  Reagan seemed off, and I attributed it to traveling and not being in her own space.  She was restless and found it hard to sleep in a different crib.  I scooped her up and had her lay with me. I awoke to her making odd sounds, drooling and grey, her body seemed limp, and she was unresponsive.  An ambulance arrived soon after, and we were taken to a local hospital to hear the words no parent wants to hear: “Your child had a seizure”.  Here I was in a city several hours from home, with my 16-month-old child, without my husband, terrified of what had just happened.  Thankfully all of my family was in town for the baby shower, and my mom, aunt, and sisters sat with me while I ran through Reagan’s already extensive medical history with the pediatric neurologist. Was she born full term? No, she was considered a late preterm baby.  Was she meeting her milestones? No, she had fine and gross motor delays, as well as speech delays.  Is she followed by a neurologist? Yes, and recently had an MRI, which didn’t show anything abnormal.  

Epilepsy Diagnosis

Yet, here we were. Reagan had experienced her first of many seizures.  Reagan was transported by ambulance from the hospital in Connecticut to our hometown children’s hospital.   We were later discharged with emergency medication and instructions for what to do if another seizure were to happen.  The nights and weeks following I slept on Reagan’s floor next to her crib, terrified of another seizure. Four months later, another seizure followed, as well as another ambulance ride and hospital stay. Two months later, after a move to Pennsylvania, yet another. Then came the diagnoses: epilepsy, as well as cerebral palsy.  It was a shock to the system. What did this mean for my nearly two-year-old? How would we manage this? Would she have a full life?

Antiepileptic Medications

Reagan started a medication, and any parent knows giving a medication to your young child can be like pulling teeth.  But we soon learned the tricks of the trade, making sure she was getting the doses when needed.  The first few months came with sleepless nights, feeling on edge and always wondering when the next seizure would come.  And they came, almost like clockwork every four months.  That “honeymoon period” of a seizure every four months lasted about a year and a half.  Then the seizures started to pop up more frequently, when Reagan was sick, when she was tired, and when she was overheated.  A second medication was added onto the first, and we achieved eight months of seizure freedom.  With our neurologist, we started to wean Reagan from the initial medication.  Unfortunately, that put us into a downward spiral of seizures and medication side effects. A new medication was introduced, and seizures came every two weeks.  A new medication came shortly after, and it slowly helped to space the seizures out. After months of the medication being just okay, the neurologist suggested adding in another medication.  With that came side effects that included extreme fatigue and loss of cognition.  My little girl was hiding in plain sight, in a heavily medicated fog.  For several months we worked through finding the right dose and finally it came.  The combination of those two medications has bought us three solid months of seizure freedom, but the side effects were still there.  And while some would consider that success, we didn’t.  For us, success was being both seizure-free AND side effect free. 

Enter the Medical Ketogenic diet

 At the end of 2018, at a routine neurologist appointment, my husband and I expressed our concerns about the side effects these medications were having on Reagan.  She gave us three options: the medical ketogenic diet, VNS, or brain surgery.  We weren’t ready for surgery just yet and given that I had some knowledge of the medical ketogenic diet and its success rate with children living with epilepsy, we knew that would be our next step. The months leading up to Reagan’s inpatient stay to begin the medical ketogenic diet, we prepared Reagan for her new lifestyle.  We explained to her this special diet could help make her feel better. We also went over the list of her approved foods and involved her in the appointments with the dietitian.  By the time we entered the hospital, she was ready, even though both my husband and I were anxious. During the five-day-stay, Reagan acclimated well to her new diet and enjoyed visiting the hospital’s Kids’ Club House, watching movies and making friends with the nurses.  She even got to visit the kitchen with the dietitian to make KetoCal® pancakes and a smoothie.

Reagan preparing a KetoCal pancake recipe

Reagan Today

Today, Reagan has been on the medical ketogenic diet for almost five months.  She loves the food, knows her schedule and knows that she must complete each meal. She’s always been a little foodie and often asks me to contact the dietitian for new and exciting snacks and meals.  The first month was hard on our family. The constant weighing and measuring were time-consuming and a little emotional.  But now we are in a groove, even eating out at restaurants and managing holidays. Reagan maintains good seizure control, and we’ve seen so many additional positive changes.  A little bit of that medicated fog has lifted already, she has increased attention to tasks, and those skills she seemed to have lost are coming back. The best part? We just received the go-ahead from Reagan’s neurologist to wean her from one of the medications! Since this was our main motivation for trying the medical ketogenic diet, we are thrilled!

Thinking back to that Mom who was scared and wondered what this would mean for her then two-year-old, I would tell her that epilepsy is a part of Reagan, but it does not define her. I would tell her that you will manage this head-on and become a better, stronger person and an advocate not only for Reagan but for all kids living with epilepsy.  Does Reagan have a full life? Absolutely!  Does her life look different than the neurotypical child? Yes, but Reagan has faced each and every one of these challenges from MRIs, to frequent doctor and therapist appointments, to medication changes to the medical ketogenic diet, head-on with a smile on her face. And when asked about her life, her response is “it’s fun!”

Erin Monast lives in the Philadelphia suburbs with her husband Travis, their daughter Reagan and dog Tag.  She writes the blog, This Is Epilepsy and is inspired every day by the strength and perseverance of Reagan.

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

KetoCal is a medical food for the dietary management of intractable epilepsy and is intended for use under medical supervision.

To learn more about the medical ketogenic diet for the management of intractable epilepsy, visit www.ketogenicdietforepilepsy.com.

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Tomas’ Epilepsy & Medical Ketogenic Diet Journey

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The Ketolicious Kid, Epilepsy Warrior (aka: Tomas, the baseball player)

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Tomas is 4 ½ years old. He loves everything baseball, outdoors and his family. He says he’s going to be a baseball player when he grows up and that we’re all going to see him on TV one day. He is my 3rd child, the sweetest of all my kids, the baby of the family and the one that was supposed to be on auto-pilot. Tomas was the best baby. He got dragged around everywhere that his older siblings had to go: school events, soccer practices, gymnastics competitions, etc. He was a typical baby and toddler, and everything was perfect, or so it seemed. I’m not sure when, but I started feeling that there was something off about him, something different than my other kids. I didn’t know how to describe it and people told me I was crazy. So, I tried to shake the feeling, and convinced myself everything was ok. Until …. April of 2018.

Epilepsy Diagnosis

We were at my parents’ house celebrating my sister’s engagement. Her fiancé was about to give a toast when, THUD, Tomas collapsed. He was having a seizure, a BIG one. It lasted about 3 ½ minutes but it felt like an eternity. What came after was worse than the seizure itself. He was lethargic and confused, talking but not making sense and then fell into a deep sleep. I watched him all night. The next day he woke up as if nothing had happened – talking, playing, asking for breakfast. I was so relieved, but it was short lived. As I set his breakfast down, he had another seizure. I rushed him to the hospital where he was admitted. There he underwent a series of tests (VEEGs, MRIs, blood work), and we were acquainted with all the -ologist and -icsts the hospital had to offer. We were told that he had epilepsy. The VEEG showed he was having 3 types of seizures (I didn’t even know there were 3 different types of seizures). It was happening all the time and we didn’t even notice. They threw out a few terms for possible diagnoses, said further testing was necessary, put him on anti-epileptic medications and sent us home with instructions to follow up in a week or two.

Intractable Epilepsy

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The next four months were a blur of increasing seizures, neurologist appointments, VEEGs, and changing and adjusting medications with little to no improvement in seizure control. All the testing came back negative and there was no explanation for his seizures other than “intractable” or “refractory” epilepsy (meaning not responding to medications). We were losing our little boy; he was in a fog of medications and seizures. This was when doctors suggested the medical ketogenic diet as a way to help manage his seizures. They told us that it would involve an initial hospitalization of 1 week and then a strict diet, in which I would have to measure food to the tenth of a gram (0.01 g) for the foreseeable future. I was skeptical. I felt there was NO way that I’d be able to feed my child in this way, especially working full-time and with the crazy hectic life we lived. But I was also desperate and willing to try anything.

The Medical Ketogenic Diet

We started the ketogenic diet in the hospital on August 20th. We had a rough start; Tomas did not tolerate the diet well at first. Thankfully we were working with an amazing team of neurologist and dietitians through the hospital’s Keto Clinic that knew just what to do. Instead of starting at our goal ketogenic ratio, we started the diet gradually. We began with the Modified Atkins Diet and worked our way up to the goal ketogenic ratio slowly, allowing Tomas’ body time to adapt. It took several months, from August to December, to work up to where he needed to be. Those months were difficult. Every few weeks we were changing ratios and adapting meals, tracking his weight and monitoring seizures. I wanted to quit on many occasions, but what kept me going was the small changes I started to notice in Tomas. Although he was still having seizures, the fog seemed to be lifting. I’d get glimpses of who Tomas used to be. This was the trend: small improvements and fewer daily seizures, until January 27th when my husband and I realized that we hadn’t recorded a seizure since December 22nd!!! Fast forward to February 14th – Tomas had his first “normal” 24-hour VEEG since his epilepsy diagnosis.

Tomas Today

Tomas is currently on a 4:1 ratio ketogenic diet and has been seizure-free for 3 months. I am so amazed with how the ketogenic diet has changed our lives. I meal prep weekly for the family and plan out Tomas’ daily meals in advance. I own multiple gram scales and more silicon molds and spatulas than I can count, but I wouldn’t have it any other way. I’ve learned to cook/make things I never thought I could, such as keto bagels, pizza, and even blueberry muffins (thanks to KetoCal®). We are lucky to have resources out there like KetoCal that make a restrictive diet feel not so restrictive and make it easier to be a mom to a Keto Kid. We juggle soccer, baseball and gymnastics, eat out, and travel. I didn’t think we would be able to do these things with such a restrictive diet, but I have found that it just takes a little prep work and creativity. Yes, there are still hard days with managing the diet, but the benefits outweigh the challenges. I never thought that our quality-of-life would improve the way that it has. I’ve met amazing people on similar journeys to ours and had opportunities to help others (like writing this blog post).

Advice for Others Struggling with Intractable Epilepsy

My advice for anyone out there suffering from seizures is to give the ketogenic diet a chance. Ask your medical team if its right for you and your family. Be patient and take it one gram at a time, one meal at a time, and one day at a time. Find support and don’t go at it alone because you are NOT alone. There is a huge keto family out there eager and willing to provide advice and support, you just must know where to look. And if you’re reading this now, you are already on the right path. Who knows in what ways the ketogenic diet might improve your life. Good Luck!
Below are some links to some helpful sites and groups:

– Lourdes

I was paid by Nutricia for my time to write this blog post, however, my opinions are my own.
KetoCal is a medical food and is intended for use under medical supervision.

To learn more about the medical ketogenic diet for the management of intractable epilepsy, visit www.ketogenicdietforepilepsy.com.

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