Hope For Amanda

                                                                                                                                                                                                        

 

Dravet Syndrome,  also known as Severe Myoclonic Epilepsy of Infancy (SMEI)),  is a rare and catastrophic form of epilepsy with multiple seizure types.  Seizures present themselves in the 1st year of life in an otherwise typically developing child, persisting in frequency with maturation.  Seizure control can be difficult, with many types resistant to current medical therapies.  Developmental delays often appear during the 2nd year of life, although the course and severity varies among afflicted children.  Afflicted children suffer a quality of life from physical and developmental regression, ataxia, sleep disturbances, orthopedic problems, and behavioral issues.  Dravet syndrome has no geographic or ethnic boundaries.

 

Amanda had a possible diagnosis of Dravet Syndrome after one of her Video EEG's at 11 months old.  The diagnosis was confirmed with her clinical presentation over the next couple of years and a positive SCN1A gene mutation (Jan 2006).

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 If you'd like to learn more about Amanda's seizures and drug treatments, please click on the following link:

  Seizures and Treatment

 

 

 Are you or do you know of a Dravet Family, please check out the Helpful Tips page:  Tips

 

 

 

The following excerpts were taken from Dr. Dravet's report on the syndrome.  The report can be viewed in its entirety at the following link:   Dravet Syndrome

 

Severe myoclonic epilepsy begins during the first year of life.  Development is normal prior to the onset of seizures.  Affected infants develop either generalized or unilateral clonic seizures without prodromal signs.  Myoclonic jerks and partial seizures usually appear later.  Psychomotor retardation and other neurologic deficits occur in affected children.

The seizure types for this syndrome include clonic, myoclonic, absence and complex partial.  The occurrence of status epilepticus (seizure lasting more than 30 minutes) is frequent, either convulsive (often febrile), or as obtundation status (Dravet et al 2002). The latter consist of an impairment of consciousness, variable in intensity, the presence of fragmentary and segmental erratic myoclonias, sometimes associated with a slight increase of the muscular tone. Convulsive seizures can either initiate or occur during or terminate these status.  Psychomotor retardation is observed usually during the second year after the onset of seizures.  Progressive neurologic deficits such as ataxia and corticospinal tract signs subsequently develop.

 

PROGNOSIS AND COMPLICATIONS

The outcome of severe myoclonic epilepsy in infancy is unfavorable. The affected children will persistently be affected with seizures. Partial seizures disappear and myoclonic jerks disappear or attenuate. Convulsive seizures are mainly localized at the end of the night. Fever remains a triggering factor and can still provoke epileptic status. Neurologic abnormalities remain stable. All patients are cognitively impaired (severely in 50%) but without deterioration after the age of 4 years (Guerrini and Dravet 1998). Many also have behavioral disorders, including psychosis. The mortality rate is very high, from 15.9% to 18% (Dravet et al 2002). The cause of death is variable, including drowning, accident, seizure, status epilepticus, infection, and sudden unexpected death.

 

MANAGEMENT
Treatment is disappointing. Valproate and benzodiazepines (clonazepam, lorazepam) are the most useful drugs. Phenobarbital, potassium bromide (convulsive seizures), and ethosuximide (myoclonic seizures and absences) can help some children. The effect of vigabatrin is variable. Carbamazepine and lamotrigine often have an aggravating effect (Guerrini et al 1998; Wallace 1998). The helpfulness of Ketogenic diet needs to be proven (Caraballo et al 1998). Recently, stiripentol (Chiron et al 2000) and topiramate (Coppola et al 2002; Villeneuve et al 2002) have been shown to be effective against the convulsive seizures and the status. It is important is to avoid the long, generalized, unilateral seizures by preventing infectious diseases and hyperthermia, which are their triggering factors.

 

March 2010

The International Dravet Syndrome Epilepsy Action League, is a volunteer-based nonprofit organization.  It was founded by parents of children with Dravet Syndrome to promote research and education for the early diagnosis, appropriate treatment, and cure of Dravet Syndrome including related genetic, febrile, sodium channel epilepsies.  

 

Additional information on the organization can be found at the following link:   Idea League

 

 

 

 

 

 

Brenda, Jason and Dr. Dravet at the Idea Conference in St Paul, MN (Aug 2006).

 

Last Updated:  Dec 2006

Jordan's Website

His parents, Kim and Pat, have started "Poems on Pictures".  It's a very neat idea, this would be the perfect gift for friends and family.  They are offering these special prints for sale to the public, with 1/2 of the proceeds going to a fund for Jordan's care and the other 1/2 for the IDEA League (a nonprofit organization dedicated to educating people and helping fund more research on Dravet's Syndrome).  Please check out Jordan's website to read about his story and Poems on Pictures.

Kim gave us this incredible picture of Amanda with the Welcome to Holland poem inscribed on it for Christmas. 

WELCOME TO HOLLAND

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

 

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

 

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

 

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

 

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

 

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

 

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

 

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

 

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

 

By  Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

 

 

Last Updated:  July 2007