What is Dravet Syndrome?
Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that is often resistant to medications. This syndrome usually begins in the first year of life with frequent and/or prolonged seizures. Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections.
Common issues associated with Dravet syndrome include:
- Prolonged and frequent seizures
- Behavioral and developmental delays
- Movement and balance issues
- Delayed language and speech issues
- Growth and nutrition issues
- Sleeping difficulties
- Sensory integration disorders
- Disruptions of the autonomic nervous system which can lead to difficulty regulating body temperature, heart rate, blood pressure, and so many other issues
What causes Dravet Syndrome?
- Newer research shows that it’s a mutation in the SCN1A gene, which contains the instructions for making sodium channels.
- This causes the brain to have an insufficient amount of sodium channels, which causes all of the issues from seizures, to cognition and even physical abilities.
- Gene mutations are a natural part of nature, its what gives variability to living things.
- Everyone has about 60 mutations from birth but they generally affect less important things like height or eye color.
- But when it happens on something so important like the sodium channel instructions, it causes problems.
- Being that this is a genetic disorder this is not something that these children will outgrow.
How is Dravet Syndrome diagnosed?
- Dravet syndrome is a clinical diagnosis that was recently determined to affect 1:15,700 infants born in the U.S making it a rare disease. When you think about it, "rare" isn't so rare when 1 in 15,700 people will have it. I am assuming there are alot of listeners to your station from Corona, so I am going to use that as an example. In Corona, CA, with a population of about 168,000, that's about 11 people with Dravet Syndrome in that city alone. That's a lot of people with this devastating diagnosis, and because it's very frequently a natural occurrence, there's nothing you can do to eliminate all risk of a child ending up with it.
- Approximately 80% of those diagnosed with Dravet syndrome have an SCN1A gene mutation (1:20,900), but the presence of a mutation alone is not sufficient for diagnosis, nor does the absence of a mutation exclude the diagnosis. Dravet syndrome lies at the severe end of the spectrum of SCN1A-related disorders but can be associated with other mutations as well.
- In the 2015 study, clinical diagnostic criteria included at least 4 of the following:
- 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, hemiclonic, or generalized tonic-clonic seizures
- Two or more seizures lasting longer than 10 minutes
- drug therapy with continued seizures after 2 years of ageanti epileptic
- Other earmarks of the syndrome include seizures associated with vaccinations, hot baths, or warm temperatures; developmental slowing, stagnation, or regression after the first year of life; behavioral issues; and speech delay.
- Now with genetic testing becoming more available, if a child is showing any of this criteria, doctors and parents should request genetic testing to determine if the cause has a genetic explanation. If that is the case it could change the course of treatment completely. Getting onto a correct medication plan or treatment according to the genetic diagnosis and be able to avoid medications that are known to make the condition worse. Most like any other disease, early diagnosis is very important for Dravet Syndrome.
- Insurances are just now starting to recognize the importance of these tests, so now many are starting to cover a portion to all of the costs.
Is this mutation hereditary? - Can this affect any of your future children?
- This answer can go both ways, actually.
- In most cases this mutation is what is called De-Novo, which means that the mutations are new to that person.
- However, there are also cases where it is infact being inherited from the parent. Even though they have the genetic mutation it, for some reason, does not affect them catastrophically in any way.
- The discrepancy between what the gene is and how it affects someone is now trying to be explained by the newer field of epigenetics, but there still aren’t too many answers.
- For parents to find out if they have the genetic mutation, they too should get their genetics tested.
How did your journey into Dravet Start?
- Our seizure journey started in 2017 and I am starting this off as “seizure journey” because we were told, though she was too young, that her 1 and a ½ hour seizure was just a “febrile seizure” and that there was nothing to worry about and no further testing was needed. If you are a parent, you KNOW when you get a gut feeling. Our gut feeling told us otherwise, especially after more prolonged hour plus seizures and more hospital stays. They eventually started her on a medication called Phenobarbital, which is ideally not a fantastic drug for Dravet, but with our neurologist and no genetic tests results, this is the path we took. Genetic testing took FIVE months to come in. That was 5 long more months of confusion, worry, anxiety, stress, seizures,hospital stays, doctor visits, what is going on with our baby? At 11 months, just before her 1st birthday party we got back the results. Her neurologist had always told me “it is better that I don’t find a reason WHY, because if I don’t then theres that better possibility of her outgrowing this.”
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Join Kari Steele as she speaks to Nicole Kleppe more about Dravet Sydrome.