Sarah has Dravet Syndrome, also known as Severe Myoclonic Epilepsy of Infancy, (SMEI), though I find that description highly inaccurate since her seizures are not limited to just myoclonic and she is no longer an infant. For as long as Sarah is alive she will have Dravet Syndrome. There is no cure for Dravet Syndrome.
Dravet Syndrome means Sarah is a 9 year old girl with severe mental retardation and uncontrollable seizures of all types.
How Does it Work, or How Does it Not Work?
A de novo mutation in her SCN1A gene, (sodium channel gene) means her brain doesn’t work right. Sodium Channel on Wikipedia
Sarah had her first seizure at five months of age. It was a few hours after receiving her DTaP vaccination. The diagnosis, a febrile seizure, nothing to worry about.
For a week we had normal lives. Then began the rest of her life, with Dravet Syndrome; constant myoclonic seizures manifesting themselves as eye flutters and head bobs, and frequent generalized clonic tonic seizures, (grand mal).
Internet research of her symptoms lead us directly to Dravet Syndrome. We shopped around for a clinic willing to perform the genetic testing. Many months passed from the time the blood was drawn to when we got the call to come in for a meeting. It was Dravet Syndrome, rare enough that the clinician presenting the test results to us didn’t really understand what it all meant. The previous diagnosis of idiopathic epilepsy could be scrapped. We now knew why Sarah was having seizures. Did it bring any relief to us? not really, but now that we knew our enemy we could defend better against it.
It would take 3 years to obtain seizure control. It would require a cocktail of Topamax, Depakote, and Clonazepam.
We are now looking at the ketogenic diet as a treatment option, though the neurologist overseeing the treatment warns us that Sarah has a “reason” to have seizures, and the keto diet works best against people without a “reason” to have seizures, people who just have idiopathic epilepsy.
more to come…
The Ketogenic diet helped and allowed us to retain seizure control while reducing Sarah’s meds by 50%. Unfortunately after a year on the diet her body won’t stay in Ketosis anymore and she is rejecting the diet. While the myoclonic seizures are gone, she is back to having many grand mals per week now.
03/23/2013 – Where we’re at
It’s March of 2013 and we’re still doing the Ketogenic diet, though we’ve lost some seizure control. Sarah has 1 to 2 grand mals per week. Today I filmed one. This one was a potential life-taker, I had to stop it with drugs. Otherwise she would have just stayed seizing, and cooked her brain. NOT RECOMMENDED FOR THE SQUEAMISH, (mainly because I’m in my underwear).
07/06/2013 – Where we’re at
This is a long stream of consciousness, sorry it’s not better written.
It’s not uncommon to go an entire day without a seizure, but we’ve completely lost the control we had in 2009 when she was going 7 months without a seizure. We’re definitely back to living in despair like we were in her earlier years. There was a week in May when she had a grand mal every morning, (in bed with us). She’s been having 1-3 grand mals per week, and occasional myoclonic seizures throughout each day. We still have her on the Ketogenic diet, and she eats her meals fine. We decided to live a little and took her to Disneyland a few weeks ago. We brought enough medicine to put down an elephant. Miraculously she didn’t have a single seizure while we were there. We brought her therapist along to help. We were pushing the limits, putting her on Tower of Terror, but she loved it. Another 4th of July went by and again she had a seizure after being outside in the party atmosphere.
her cognitive ability is unchanged. She’s still mostly non-verbal and cognitively comparable to a 2 year old.
08/04/2013 – Hope and Despair
First, the hope:
A girl with the exact same syndrome as Sarah, and a medicine that works for her and is all natural.
Next, the despair; a seizure on 08/04/2013
09/05/2013 – Tough Night For Danger
Tough night for danger. We’re all very tired right now. Six large seizures in four hours, starting 3:30 AM. Clusters on 09/05/2013
10/14/2013 – TED talk by Josh Stanley
01/01/2014 – Papers Please
We’ve received our recommendation letters for cannabis treatment for Sarah. We’ve also been on the Realm of Caring’s wait-list for CBD since September. We’re still waiting. Sarah is still consumed by Dravet Syndrome. Still cognitively delayed, still seizing.
04/24/2014 – A Plea For Help
The Realm of Caring was just getting established in LA county when they got shut down. This means a halt in the process of us getting Charlotte’s web. Ray from the Real of Caring, (RoC), is meeting with other parties now trying to find a place to setup. He reached out and asked us for some words to demonstrate the importance of his effort.
“Sarah Gunder, born August 20th 2005, happy, bright, smart and vibrant struck down by the onset of Dravet syndrome the night of her DTaP vaccination at age five months. With a confirmed SCN1A gene mutation now eight years old her mental ability is that of an 18 month old and she is non-verbal. Stricken with constant seizures of varying types her brain is unable to learn or focus. Of the various seizure types the grand mals are the most devastating. We live one day at a time just happy to see her alive each morning. Sarah is in desperate need of the healing and regenerative properties of the CBD in the Charlotte’s web strain of Cannabis oil.
To anyone that can make a difference, I beg you; please let the Realm of Caring produce this life-saving tincture in southern California and improve and save the lives of many children stricken with intractable epilepsy disorders such as Dravet syndrome. Please let Ray and his team grow the medicine that will dramatically improve and potentially save our daughter’s life.”
Sending this to Ray now. I hope it helps.
08/28/2014 – First Contact
We’ve been contacted and told it’s our turn!
Order placed with the Realm of Caring for Charlotte’s web!
04/01/2015 – Balancing
We’ve been on Charlotte’s web for seven months. In the beginning it seemed to work well and we reduced her meds a little, but recently her seizures have been strong and frequent so we’re increasing her meds a little. I don’t know if the product changed, it could just be snake oil at this point. The labeling changes to “CW Hemp Oil”. It’s impossible to really know what we’re getting. We trust that Ray from the Realm of caring is sending us proper CW CBD, but she seems to respond differently from bottle to bottle, there just doesn’t seem to be any consistency. We’re off the strict keto diet and she has more dietary freedom, though still gluten free obviously due to her Celiac disease, and still high in fat. We’re looking into adding THCa since we’ve maxed out on the recommended dosage of CBD, and yet she still has seizures.