Monday, June 29, 2015

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.

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