What is Dravet Syndrome?
There are countless individuals all over the world who suffer from epileptic episodes from time to time. While every event can be scary, some conditions are less manageable than others. Among one of the more difficult types of epilepsy is a rare condition known as Dravet syndrome.
Dravet syndrome is diagnosed within the first year of an individual’s life. It manifests in children who seem otherwise healthy and persists for the rest of their lives. It’s a very rare condition that was previously referred to by other names that often reflect its early development, such as polymorphic epilepsy in infancy (PMEI) or severe myoclonic epilepsy in infancy (SMEI).
Symptoms of Dravet Syndrome
It’s difficult to gauge this disease without having medical intervention. The symptoms, at first, are just a series of seemingly untriggered seizures in a healthy infant. There are a handful of symptoms that may or may not occur at the same time. Many report that fevers occur with the seizures.
While this disease occurs in infants without obvious prior medical problems, the persistent seizures impact further development. Many victims suffer from developmental abnormalities over time. By the time they reach adolescence, many develop a slouched walk.
Unfortunately, the diagnosis takes some time.
MRI (magnetic resonance imaging) and EEG (electroencephalogram) techniques are used to determine any abnormal brain activity. Many infants that suffer from Dravet syndrome have normal initial readings. The manifestation of abnormalities may only be observable after some time.
What Causes Dravet Syndrome?
Unfortunately, it is also difficult to gauge if a child will develop Dravet syndrome. While no one is sure what causes the malfunction of the brain, there are some publications that indicate a genetic defect is to blame.
About 80% of Dravet syndrome patients exhibit genetic mutations on SCN1A. Remember, though, just because it involves genes does not mean that it is hereditary. Research failed to show that this genetic mutation is inherited from either parent. In fact, they failed to establish a family history connection in general.
Many believe that this is simply a “new” mutation that happens from time to time. The SCN1A mutation may disrupt ion channel function, resulting in seizures. There are several Dravet syndrome patients who do not have this mutation, and there are some with this mutation that do not suffer from seizures.
Blood tests to analyze DNA are often part of the diagnostic performance. It’s crucial to get the diagnosis as soon as possible so that interventions can be made. Intervening with the disease during critical stages helps reduce the negative side effects of the frequent seizures.
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How to Treat Dravet Syndrome
Dravet syndrome is often associated with a tolerance to treatment. While this is a scary characteristic, this doesn’t mean there is nothing to be done.
While researchers are still developing a concrete cure, there are several therapies used to manage the conditions. Medications used often fall under one of two categories: those meant to be taken regularly to treat the chronic symptoms, and those meant to be taken during the seizure.
Common medications include valproic acid, clobazam, topiramate, stiripentol, and fenfluramine.
More recently, cannabidiol has become a popular treatment alternative. If you are interested in any treatments involving CBD or medical marijuana, talk with your child’s doctor. They can direct you to the best treatment path and offer information on the regulations in your county and state/province/territory.
For those children who suffer from particularly untreatable seizures due to Dravet Syndrome, the Food and Drug Administration (FDA) recently approved a few new medications, including Epidiolex, Diacomit, and Fintepla. These medications may be used alone or in combination with other treatments.
Some lifestyle restrictions and vagus nerve stimulation (VNS) may also be recommended. It’s important that you listen to these recommendations as they are crucial to preserving the wellbeing of the patient in the long run.
Dravet Syndrome and Vaccines
Vaccines do not cause Dravet syndrome. While there are some propaganda pieces preying on worried parents, it’s important to vaccinate your children. Some of these articles attempt to draw comparisons between the time Dravet syndrome manifests and the time infants get their first rounds of vaccines, but they are not, in any way, connected. If you have questions about vaccines, be sure to talk to your doctor.
If you have any questions or concerns about the wellbeing of you or a loved one, make sure to contact a licensed professional. Physicians can offer expert advice on what to expect and how to stay healthy.