Devastating News....

Well yesterday, my husban'ds family received some heart breaking news. My niece Lena who is 2 1/2 has been suffering from a multiple seizure disorder since she was 8 1/2 months old. Yesterday she recieved a new diagnosis. Genetic testing showed positive for a gene mutation of the SCN1A gene. Which has given her the diagnosis of Dravet Syndrome. We've been hoping and praying for the last couple of years that she would just grow out of this. But it looks like this is a lifetime thing she will have to deal with. Not a whole lot of information can be found on this disease as it is rare. Most of the time the biological parents are not even carriers of the gene. This gene mutates during the embryonic stage of development. There are only about 426 documented known cases of Dravet Syndrome. I'm sure there are other children out there with such a diagnosis, but because of the lack of awareness they aren't known. I plan on doing whatever I can to help my brother in law and sister in law care for their beautiful little girl. I also plan on doing whatever I can to help them raise funds for Lena's foundation and raise awareness about Dravet Syndrome. Here is some information I found online below: More info can also be found on this blog: http://dangerouslyrare.blogspot.com/

How Does this Condition Evolve?

Primarily the start of the condition includes a clonic seizure that is associated with a fever. The seizure may affect one side of the body or both, sometimes changing. Within a few months another seizure occurs very similarly to the first. These seizures are usually status epilepticus, meaning basically they last too long. In some kids myoclonic seizures then follow.The first seizure the child has occurs in the first year of life and seizure control is very difficult to obtain. Unfortunately at about age 1 development slows considerably and doesn't pick up again until 4. Some regression in development can occur. Meaning that children can lose skills during this time. Most or all children will grow up and have at least some form of mental retardation, varying in degrees.These kids can and usually do have a wide variety of seizure types. The seizures are frequent and often reach status epilepticus. After the first two clonic seizures, fever may or may not be present.Although the syndrome name includes "Myoclonic" it does not necessarily mean that the child will have myoclonic seizures although many children do go on to have them.SpeechOn observation it appears that all children with Dravet syndrome appear to have more of a problem with speech then any other developmental skill.

What are Clonic Seizures?

A continuous punching action that occurs without stiffening of the body.What are Myoclonic Seizures?Myoclonic seizures are quick jerks, usually singular and can be mistaken for a startled reflex. The myoclonics may occur in clusters (meaning a lot of jerks in a group) sometimes lasting hours. The person experiencing myoclonic seizures are fully awake and aware of what is happening. Myoclonic seizures can be as subtle as a chin twitch and as vicious as to knock a person to the floor.

What other Seizure Types can Dravet Syndrome Children Experience?

All seizure types, but here are the main ones:Tonic Clonic: Child goes stiff, becoming unconscious, followed with punching of the arms and legs.Tonic: The body goes stiffAtonic: The body goes limpAbsent Seizures: Staring of for a second or so.Complex Partials: Complex and repetitive movement with little or no awareness of what they are doing. Includes: Chewing, strange movements perhaps with just one or more appendages (arm, leg, head etc.), as an example, some may dress and undress.Simple Partials: Same as Complex Partials only the child is fully aware of what they are doing but are unable to control or stop it.Many children will have a combination of seizure types all in the one go.Diagnosing Dravet SyndromeIs based on clinical observations. This includes the child's seizure history and EEG records, many children will have a normal EEG reading early on, that will then start showing specific abnormalities as the syndrome progresses. In some cases a genetic link has been found. A test can be performed (in research phase) to determine if a child has this gene mutation, called SCN1A mutation. This is not however conclusive as some children although diagnosed with SMEI do not have this mutation.

Seizure Triggers Specific to Dravet Syndrome:

Heat can be a trigger for seizure activity in these childrenThe usual triggers for seizures are also sometimes present including:PhotosensitivityBeing tired, or lack of sleepIllness and often feverOver excitementBeing outside of their comfort levelBest treating drugs for Dravet Syndrome suggest:Valproate (Sodium Valproate, Valproic Acid, Epilim) etc.Benzodiazepines (Clonazepam, Lorazepam)Stiripentol - Great expectations here but not easily availableTopiramate (Topamax)Ethosuximide (Zarontin)

Drugs to stay away from:

Lamotragine (Lamictal)Carbamazepine (Atretol, Depitol, Epitol, Tegretol)Some research also suggests Phenytoin (Dilantin) can also aggravate