The Case For Dravet's Syndrome
by Lyndsay Gutierrez
Dravet's syndrome is a rare epilepsy condition that has only recently been classified. Despite the devastating nature of this condition, relatively little formal research has been done. Symptoms, treatments and affect on family are discussed. Further research is needed in the areas of prevention, cure and reversal of damage caused by frequent seizures.
The Case for Dravet's Syndrome
Dravet's syndrome is a rare and devastating form of epilepsy affecting children from the first year of life. The rarity of this disease and relatively new distinction as its own syndrome mean that there is little formal research available. Much of the available information is from parents of Dravet's patients and from the International Dravet's syndrome Epilepsy Action League or IDEA League (IDEALeague, 2009). More formal research is needed in support of this detrimental condition. Dravet's syndrome is a genetic disorder characterized by severe symptoms and rapid progression as well as its difficulty to diagnose and treat and the dramatic effect it has on the home and family life.
Dravet's syndrome, also known as Severe Myoclonic Epilepsy of Infancy or SMEI, is a neurodevelopmental disorder caused by a genetic mutation. Children with this condition are born apparently healthy and start developing normally, but the unseen genetic mutation causes seizures to begin somewhere during their first year. These seizures start as febrile or fever related, though as the condition progresses and the child grows, the seizures become more varied and become non-febrile, or not related to a fever. The UK's National Society for Epilepsy reports that there are over 40 types of seizures (NSE, n.d.). Some of the types of seizures include absence seizures where the patient is spaced out and unaware of their surroundings, partial seizures involving only part of the brain and the associated muscle groups, or tonic clonic, also known as grand mal seizures (IDEALeague, 2009). Grand mal are the type most people associate with "seizures", and what most medical TV shows portray. Though not as dramatic, other types of seizures all have their own damaging effect on the brain.
The brain traumas suffered by these children so many times a day not only cause developmental delays, but even regression of memory and learned skills. Speech problems are almost universal, though it is thought that they probably understand more than they are able to communicate back (Wolff, M., Cassé-Perrot, C. & Dravet, C., 2006). This can prove to be a source of frustration for parent and child alike. Children may be unable to communicate what they would like and tend to use particular phrases for any situation even if it does not convey the message they intend. These children also develop ataxia, which is a loss of coordination in voluntary muscle groups, similar to what stroke patients experience. These brain traumas are also the cause of mild to moderate retardation. A ten year old with the developmental level of a three year old is not uncommon. Secondary symptoms, those caused by the seizures, are some of the most challenging of the condition. There appears to be a link between epilepsy and other disabilities including autism (EFNJ, 2005). Autistic tendencies are common. Because the original trigger is often a fever, many have trouble maintaining proper body temperature and need constant monitoring, especially early on. They are also prone to infections and orthopedic disorders and tend to be underweight and small for their age. Most have severe sleep disturbances due partly to increased seizure activity, but also for unknown reasons (IDEALeague, 2009).
This condition is complicated not only because of the symptoms, but also the fact that treatment is considerably more difficult than with other forms of epilepsy. Most drugs that help epilepsy patients are not effective or even aggravate symptoms for Dravet's patients (Kassaï, B., Chiron, C., Augier, S., Cucherat, M., Rey, E., Gueyffier, F., et al. 2008). Stiripentol is the only drug specifically indicated for use in treating Dravet's, however it is very expensive- around $8,000 a year- and hard to get in the US. Other treatment options include a specialized diet known as the Ketogenic diet that restricts carbohydrates and is high in fats. Therapies such as Intravenous immunoglobulin (IVIg) and vagus nerve stimulation (VNS) are being studied, but as with all treatment options for Dravet's, the effectiveness of each is highly dependent on each patient. IVIg is a blood treatment typically used for inflammatory and autoimmune diseases. VNS involves stimulation sent to the brain from an implanted device similar to a pacemaker (IDEALeague, 2009). According to the IDEALeague website, "Early implementation of global therapies is essential to support optimal development. Patients with Dravet syndrome should receive physical, occupational, speech, and social/play therapies and an enriched environment is encouraged."
Because of the rarity of this disease, even getting it diagnosed is rare. Few doctors, even epilepsy specialists, know much if anything about this condition. These families may be seeing pediatric epileptologists and still it can take ten or more years in some cases to find someone who will even consider, let alone test for it. This is problematic because treatment attempts without this diagnosis are stressful and even dangerous. Once diagnosed, there is an excellent support group online through IDEA League that provides information, suggestions for doctors and treatments, even information on insurance companies that cover certain drugs and how to get them to approve it. That makes this support group critical to parents, especially those with a new diagnosis.
All of this means providing a lifetime of care which has a dramatic effect on the families of these children unless they can pay for someone to provide care. Seizures are typically worse during the night, so parents never get a full night's sleep for fear of the next seizure. Anti-seizure medications must be given on a daily basis to reduce the number of seizures and at the first sign of seizures to stop them. These medications must also be closely monitored for effectiveness and unwanted side effects as treatment is a continual trial process. Dravet's children also have no sense of boundaries or strangers, so they must constantly be watched to prevent walking into dangerous situations. They may wander out of the yard into the street in front of a car, or get lost in crowds. This is especially dangerous when combined with the lack of coordination caused by ataxia from their seizures. They love hugs and affection, but do not understand that walking up to someone they don't know may be dangerous and that not all people are friendly. Families must keep all doors locked while inside so that if the child does leave the house, at least they will know which direction they went. They must always be watchful of the child's behavior for signs of seizure and watchful of the environment for possible triggers. Everyday activities and sights can trigger a seizure. Watching television, looking at the sun, a window screen, or a neighbor's striped shirt can all act as a trigger. Even a bath can be enough to cause a seizure as some children are sensitive to temperature changes as well. While these children may have the mental development, curiosity and coordination of a young child, they have the height and reach of their own age. This can lead to challenges such as needing to keep them away from a hot stove. Despite being told that if they touch it, they may be burned, they may not understand what that means for them. While it would be easy to keep a small child who cannot reach from touching the stove or hot water from the sink or even a kitchen knife, these children are tall enough to reach on their own as soon as the parent is not looking (K. Dillard, personal communication, November 2, 2009). Tendencies toward repetitive behaviors and excessive stubbornness and activity have also been observed (IDEALeague, 2009). All of this still only considers childhood challenges. Into adulthood, people with Dravet's still often require continual care to some extent. Even those who manage to get their seizures under control will forever have developmental delays and must handle all that comes with essentially being a child trapped in an adult's body. Holding down a normal job and paying rent would be an immense challenge in most cases.
The constant monitoring of a child with Dravet's can take a toll on their family. From the time of the first seizure, parents have constant worries. Spending nights listening for normal breathing and dreading the next seizure as well as fear of not getting there in time become the daily norm. Not only does it often lead to exhausted parents, but if there are other siblings involved, it can get even more complicated. This constant attention on one family member can be difficult for everyone, especially other children. The typical sibling rivalries are due to jealousy and having to deal with of the attention given to the sibling with Dravet's. Healthy siblings may feel isolated and unimportant, which could lead towards acting out in order to get some of the attention they feel like they have been missing. All family members must be aware of and trained for seizures. Siblings need to be aware of signs that a seizure may be about to start and what to do if it does. Especially if parents would ever like a break, it is important to have family members or friends trained on treating seizures and being aware of triggers and warnings.
Beyond the day to day challenges, financial concerns are often a source of stress for families. At around $2,000 a month, the costs of medication alone can be enough to challenge a family's budget. Even with insurance, the co-pay adds up quickly. Add in the need to see specialists located in only certain areas of the country which requires not only the expense of the specialist themselves but also the travel required for child and parent. There are also conferences around the world that provide valuable insight and connections, but mean more travel expense. While insurance coverage is possible for these needs, it is often difficult to obtain and a recurring battle to get more covered.
This rare genetic condition has a life-altering effect on the patients and their families. While research is being done, there is still more to do to find effective treatments and possibly a way to prevent this debilitating condition from affecting more people. Epilepsy affects more people than Cerebral Palsy, Multiple Sclerosis and Parkinson's disease combined. While Dravet's Syndrome represents only a small portion of this, more are being diagnosed all the time. Still, according to Citizens United for Research in Epilepsy (CURE), research funding per Parkinson's patient averages $2,000-$2,500- more than four times the $500-$590 range per epilepsy patient. Alzheimer's disease and autism are also significantly more funded, despite being less common (CURE, 2009). More research needs to be conducted in support of Dravet's syndrome's classification, diagnosis and affect on family life in order to provide the best support possible.
Citizens United for Research in Epilepsy (CURE) (2009) What is epilepsy? Retrieved 14 Dec 2009 from http://www.cureepilepsy.org/about/what_is_epilepsy.asp
Epilepsy Foundation New Jersey (EFNJ) (2005) Epilepsy Statistics Retrieved 14 Dec 2009 from http://www.efnj.com/content/info/statistics.html
International Dravet's syndrome Epilepsy Action League (2009) IDEALeague homepage Retrieved 22 Nov 2009 from http://www.idea-league.org/
Kassaï, B., Chiron, C., Augier, S., Cucherat, M., Rey, E., Gueyffier, F., et al. (2008). Severe myoclonic epilepsy in infancy: A systematic review and a meta-analysis of individual patient data. Epilepsia (Series 4), 49(2), 343-348.
National Society for Epilepsy (NSE) (n.d.) Epilepsy- did you know…? Retrieved 12 Nov 2009 from http://www.epilepsysociety.org.uk/AboutEpilepsy/Whatisepilepsy/Epilepsy-didyouknow
Siegler, Z., Barsi, P., Neuwirth, M., Jerney, J., Kassay, M., Janszky, J., et al. (2005). Hippocampal sclerosis in severe myoclonic epilepsy in infancy: A retrospective MRI study.
Epilepsia (Series 4), 46 (Issue 5), pp 704-708.
Wolff, M., Cassé-Perrot, C. & Dravet, C. (2006). Severe Myoclonic Epilepsy of Infants (Dravet Syndrome): Natural history and neuropsychological findings. Epilepsia (Series 4), 47 (Nov2006 Supplement 2), pp 45-48.
Special thanks to Erick and Kim Dillard for all their great insight, advice, suggestions and recommendations.
Meet other Dravet Kids!