A Rare Type of Epilepsy – Dravet Syndrome

I may be familiar with the disease epilepsy but I had never before this year known of a severe form of the disease called Dravet Syndrome (also known Severe Myoclonic Epilepsy of Infancy), and that it tends to begin in childhood. Dravet Syndrome, from what I have learned, occurs in a specific gene called SCN1A, which is a sodium channel in the brain, that doesn’t work.

Do you know someone with the disease or even a parent of a child with the disease?

I have a friend whose daughter is my daughter’s age, and she has had more seizures from another type of epilepsy in her short life than I could ever imagine. I also had a former boyfriend with a type of epilepsy, and always knew where his medication was at all times should he ever need it, and to know when to act to get him help should he need it.

Can you imagine that this is what some families experience as their “normal”?

I was most surprised by what I learned from the Epilepsy Foundation, and here are some alarming and disturbing statistics:

• As many as 3 million people in U.S., and another 65 million worldwide, suffer from epilepsy

• As little as 40,000 are diagnosed with Dravet Syndrome; the disease is diagnosed during infancy and can be lifelong

• Most staggering is that, as many as 200,000 people in the U.S. will be diagnosed each year

• Epilepsy receives far less financial support from the government despite being more prevalent that Multiple Sclerosis, Cerebral Palsy, Muscular Dystrophy and Parkinson’s Disease combined

• In over 30 percent of patients, seizures cannot be controlled with treatment

• Because as many as 80% of Dravet Syndrome patients have the gene mutation SCN1A that leads to problems in how ions work in the brain and thus these patients are not as responsive to medication. In fact, there are some sodium blockers that can worsen seizures.

• Also, most of the diagnosed kids ages six and up are likely experience developmental disabilities.

Another friend of mine, Jaime, (the super mom to right) has a child with Dravet Syndrome. This rare form of epilepsy puts patients at a high risk of getting seizures. She and her husband Jason always amaze me. To help manage their daughter’s condition, while raising two other healthy children, together they have researched and decided that a special high-fat, low carbohydrate diet called ketogentic (also known as The Keto diet), was the best approach for them to stave off their child’s seizures. In fact, their daughter has not had a seizure in over two years, and that’s impressive.

The Keto diet, as it is also referred to by the community of families impacted by this disease, is no ordinary diet. It’s strict. It produces what’s called ketones, which are formed when the body uses fat for its source of energy. Thus, fats become the necessary fuel.  Apparently, the higher the level of ketone levels the more improved control there is of seizures.

Jamie and Jason (pictured left with their kids) often have their scale and calculator where ever they go, to prepare and measure food that their daughter can eat, and are often rifling through pages of food options and measurements to make sure their daughter is fed well, with the right of amount of calories and fat, and so much more. 

What’s even more amazing is that they have become such a great team and work so well together to help their daughter. Even more, their daughter has learned about life with and without seizures and has gone along with the restricted diet to help reduce, or in this case eliminate, her seizures. 

I am always amazed at what Jamie and Jason do, and continue to do, to help their daughter, and also to raise awareness Dravet Syndrome.  There are so many activities, fundraisers and events they are involved with to help put this disease more on the map.

To think, managing a healthy baby, especially in the first year is challenging, I can’t even imagine what it is like with a child with special needs, let alone a rare condition.

Dravetfoundation.org, a non-profit organization started by parents of a child with the disease, is a community committed to awareness of the disease, and to motivate much-needed research. The group also offers grants for syndrome-specific research. Their role is to help move forward the medical community to finding better treatments and a cure while assisting with patients and their families coping with this disease.

Jaime and Jason also chronicle their own experience online at theketochronicles.blogspot.com. There you can also hear about their experiences first hand, fall head over heels for their adorable and precocious daughter, and their ongoing journey with Dravet Syndrome. Jamie says, “The first few months getting adjusted to this diet is important. It’s going to be hard. It’s going to be tough. Your kid is going to want out. Stick with it, I implore you. It has worked for us and we still hit snags in the road, with our daughter not wanting to do this anymore and wanting a special treat. Being reminded of being seizure-free for over two years keeps us going.”

Raising children is a hard job. Doing so with a special needs child is even tougher. Mommy’s Point of View has signed up to support Dravet Syndrome and will continue to do so to help raise much-needed awareness and funds. If you would like to donate, as every penny counts, visit here.

Being in public relations, it is very hard to sit quietly and not do my part to help spread the word. So, I wanted to take this time to acknowledge Jamie and Jason for their incredible and tireless efforts for Dravet Syndrome, and for their daughter, and wanted to acknowledge them as health heroes for this cause.

A special shout out to Jamie and Jason for being awesome and dedicated parents, and who are today’s Mommy’s Point of View Health Hero’s, for Dravet Syndrome.

Helping Kids Not to Quit

This summer, my daughter asked to join the local swim team. My husband and I were so excited, and we didn't push her to sign up. We were none too happy when she asked, and excited to support her and cheer her on. 

However, for all of us, we had no idea what joining the swim team really entailed. 

It wasn't until my husband and I sat down with our calendars after we signed up, paid and committed that we realized that swim practice included "intense" Monday through Friday afternoon practices starting in early June when school was still in session for nearly two months, with "A" and "B" meets (home and away) all in one week. 

Daniel and I looked at each other and wondered, "what did we sign up for..swim boot camp?"

Now, don't get me wrong. I love to swim and Sarah has been in the water since she was an infant and loves it. We knew that Sarah's idea of swimming was frolicking in the water, learning some strokes, playing games, and doing somersaults. Nowhere in her head did she envision laps, after laps, after laps.

We don't think she, nor we, planned for what would happen on the first day of practice, and moving forward. The coach was, and is, tough, and despite getting glowing reviews from so many member parents, we struggled through Sarah's first practice, grinning and baring it as she swam 25 meters, and then 50, then 100 and more. All we could think of was that Sarah's little arms must be so tired and that this was a lot for a kid her age.  

After that, you will not be surprised to hear that Sarah wanted to quit on the first day.

In my head I thought, "what am I doing pushing her to stay involved?"  I thought, "this was nuts to encourage her to do this when she just was so unhappy, and tired."

I felt terrible. I felt like an inadequate parent.

There were moments where I wanted to grab Sarah, and let her cry, which she did anyway that first day and a few more after that, and tell her that she can quit.

I was really stuck between a rock and a hard place. I wanted so much to be part of the swim mom "club" and to cheer on my daughter as much as everyone else. However, after that first swim practice, Sarah always asked, "is practice cancelled" and I wondered if we should proceed. She would get upset when we said it didn't get cancelled, even on days when the weather may have been questionable. 

Once Sarah learned the backstroke, we thought maybe there might be a change in her disposition, as it was a stroke she had not really done before, and was nailing it and seemed happy, as were we.

As parents, we want to encourage our children to strive for more...and for them not to quit and see things through. Despite many conversations that swimming on the team is not about winning but instead growing as a swimmer, she didn't seem to change her thinking. What is also so very hard is that sometimes after practice she is glowing and smiling because she did so incredibly well. The same was true for her first big swim meet.  

Oh, it's so confusing. We want to encourage our child to strive and excel. But, at what cost? We don't want her to hate us for pushing her into something that maybe we were not fully prepared for, and to give up too easily in the future when things in life are hard.

We can't all be Tchaikovsky when we first sit at the piano or van Gogh when we want to paint a masterpiece, or the 2012 Olympian for backstroke Missy Franklin, without training, passion, enthusiasm, and a little pushing. 

Sarah knows that she is continuing with swim this season and we hope that by the end she sees the lesson we have been trying to teach her, and for her to be proud of the already accomplished swimmer she has become. She has come leaps and bounds in the pool and we are so incredibly amazed at what she has accomplished in such a short time.